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1. Introduction

Reasons for this include improved diagnosis through expanded newborn screening programs, identification of potentially affected family members and greater awareness of symptomatic presentations in adolescence and in adulthood. Greatly improved survival and reduced mortality from previously lethal and debilitating conditions have enabled survival into adulthood and greater participation in society [ 2 ].

Pregnancy in women with IEM can be seen, as a successful outcome of survival and transition into adulthood, achieving as normal a life as possible. Once thought to be contraindicated for many conditions, there are now accumulating reports of successful pregnancies in a wide range of IEM [ 4 ]. There do remain significant challenges however, given the biological stresses of pregnancy, parturition and the puerperium. Outcomes are most favourable where the diagnosis of an IEM is known, allowing preventive and pre-emptive management.

Unrecognized metabolic disorders have been, and remain, a preventable cause of maternal and neonatal mortality and morbidity. Helpful and detailed recent reviews have been published on the clinical experience [ 4 ] including practical management of such pregnancies [ 5 ]. Improved understanding may enable anticipation of possible problems especially where current knowledge and experience is limited and thinking from first principles may be required.

The focus of this review is to describe normal adaptations to pregnancy, discuss how various types of IEM may be affected in this setting and integrate current experience of such pregnancies in the literature. Where relevant, insights gained from these rare IEM to more common conditions will be explored.

Finally, gaps in the literature, unanswered questions and steps to enhance further knowledge and experience will be summarized. To understand the potential impact pregnancy may have in women with IEM we must first consider general adaptations to pregnancy. Anatomical and systemic physiological changes, from conception to the puerperium, are, necessarily effected by modification of subcellular metabolism under genomic and endocrine influence. We will therefore discuss in turn, anatomical and body composition changes from conception to the post-partum period, physiological and metabolic adaptations to pregnancy.

Am J Clin Nutr. Body composition changes in pregnancy: measurement, predictors and outcomes. Eur J Clin Nutr. Recent methodology by in vivo amino acid oxidation IAAO suggests protein requirements, whether by Estimated Average Requirement 50th percentile or Recommended Daily Allowance 97th percentile are significantly higher than previous estimates.

Protein and Amino Acid Requirements during Pregnancy. Adv Nutr. These changes are reflected in the requirements for protein and its component amino acids, essential fatty acids, calcium, iron and other key micronutrients, with energy storage and utilization during pregnancy being derived from carbohydrate glucose and lipids [ 7 ] see section 2. Alterations in total body water and its compartments contribute to cardiovascular changes observed during pregnancy [ 9 ]. Increased plasma volume, hence venous return, affects preload. Systemic vascular resistance, reduced via oestrogen and nitric oxide mediated vasodilatation, decreases afterload.

Maternal heart rate increases from the first to the third trimester. Increased renal, mammary and skin blood flow support the increased oxygen requirements of these maternal organs [ 9 ]. The substantially increased metabolic demands during pregnancy are discussed in section 2. Systemic and renal vasodilatation increase renal blood flow. This contributes to altered renal threshold for glucose reabsorption.

Glomerular membrane charge selectivity alters, which together with raised GFR, increases urinary albumin and protein excretion [ 9 ]. Changes in maternal bone and mineral metabolism occur during pregnancy and post-partum. This was recently reviewed [ 10 ]. Altered gut motility with reduced lower oesophageal sphincter tone, delayed gastric emptying and slowed intestinal transit time are well described, attributed largely to progesterone [ 9 ]. Normal liver function includes synthetic, excretory and metabolic functions. Synthesis of proteins includes clotting proteins, lipids and transport proteins like albumin.

Excretory functions encompass catabolism and excretion of bile acids, detoxification and biotransformation of xenobiotics and hormones. As the sentinel organ of intermediary metabolism, metabolic functions include nitrogen metabolism, transamination and ureagenesis; regulation of carbohydrate metabolism includes galactose metabolism, glycolysis, glycogenolysis and glycogen storage, as well as lipid synthesis, storage and metabolism [ 11 ].

Pregnancy significantly influences liver function. Synthesis of proteins, such as lipoproteins and coagulation factors, increase under hormonal influence [ 9 ]. A hypercoagulable state results, particularly relevant in homocystinuria where thrombosis risk is already increased [ 5 ]. Effects on intermediary metabolism are discussed further below. The energy required to support the metabolic demands of an average full-term singleton pregnancy is approximately 38, Kcal with the major energy cost coming near term with estimated BMR increase of around Kcal per day [ 7 ]. In the first two trimesters of pregnancy, maternal anabolism predominates, with enhanced insulin sensitivity.

Where food availability permits, maternal fat- and fat-free mass increase over this period [ 6 , 7 ]. Maternal catabolism may be exaggerated in the third trimester where nutritional state is borderline [ 14 ]. Lipolysis-derived glycerol becomes a preferred substrate for maternal gluconeogenesis [ 14 ] while maternal glucose is diverted for foetal consumption.

Fasting maternal glucose levels are reduced throughout pregnancy reflecting enhanced hepatic and placental uptake. In later pregnancy peripheral muscle insulin resistance is associated with higher postprandial glucose levels. Glucose passes across the placenta via GLUT1 facilitated diffusion, down a concentration gradient [ 13 ]. These processes are reviewed in greater depth in recent reviews of metabolism in gestational diabetes [ 13 ].

Amino acid concentrations across pregnancy trimesters. Barplot comparing plasma amino acid concentrations across trimesters among pregnant women. PLoS One. Protein requirements are increased from early pregnancy and increase throughout gestation [ 8 , 19 ]. Contemporary methods such as in vivo amino acid oxidation suggest previous estimates of gestational protein requirements, based historically from extrapolation of nitrogen balance studies in men, may be insufficient, especially in late pregnancy, Fig.

Maternal plasma VLDL cholesterol and triglycerides increase during pregnancy, with oestrogen-mediated decreased hepatic lipoprotein lipase [ 20 ]. Placental hormone-sensitive lipase releases free fatty acids, including long chain essential fatty acids, to support foetal growth and development. Carnitine, via the plasma membrane carnitine transporter, enters the cytoplasm and combines with the LCFA esters, and is itself transported across the inner and outer mitochondrial membranes by Carnitine Palmitoyl Transporters CPT 1 and 2 respectively.

Medium chain MCFA and short chain fatty acids SCFA can enter the cell and into the mitochondria independently of carnitine and its transporters [ 21 ]. Peroxisomal functions are complex, include elongation of EPA to DHA, apparently enhanced in the foeto-placental unit, as well as metabolism of more complex lipids e. Ketones generated from mitochondrial fatty acid oxidation are used as a maternal fasting energy supply, as well as for foetal energy and brain development [ 13 ]. Cholesterol is essential for foetal development and metabolism.

There is evidence for both de-novo foetal synthesis as well as placental transport of maternal cholesterol [ 13 ]. The importance of lipid metabolism in human, as opposed to rat, pregnancy is now much better recognized. One can speculate on the significant interspecies differences in relative brain size and development [ 28 ]. The physiology of labour is complex and has recently been reviewed from the perspective of myometrial function [ 30 ].

From a metabolic standpoint it represents prolonged and intense muscular activity where the energy requirements are substantial [ 30 ]. Whether altered cellular metabolism e. Following delivery of the foetus and placenta, maternal endocrine and metabolic status changes abruptly, while the newborn rapidly adjusts to post-uterine life. Maternal catabolism is pronounced with energy and nutrients being diverted to milk production from the third postpartum day. This mobilizes amino acids for lactation. The abrupt post-partum oestrogen decline similarly facilitates maternal skeletal calcium mobilization [ 10 ] Post-partum maternal body composition changes resulting from catabolism are evident in Fig.

This is a therefore a period of exceptionally high risk for decompensation of inborn metabolic disorders in at risk-mothers and neonates. Many such disorders present for the first time in the post-partum or neonatally. They can be variously classified. As broad categories they encompass respectively, disorders of intermediary metabolism, mitochondrial energy metabolism and organelle-based disorders such lysosomal storage disorders [ 32 ].

Effects of pregnancy may differ between these groups which will therefore be discussed separately, with emphasis on disorders of intermediary and of mitochondrial energy metabolism. In exploring the types of impact pregnancy may have on IEM, insights from translational research and clinical experience will be reviewed.

These first two categories are exemplified by well described inborn errors of protein and amino acid metabolism. Inherited defects in any of these enzymes can cause recurrent episodes of hyperammonemia. Defects in two mitochondrial transporters, not shown , may also result in hyperammonemia. Complicated post-partum course in a female with OTC due to partial X chromosome deletion. Protein aversion and disordered eating in OTC deficiency: a challenge for pregnancy and post-partum management in a female heterozygote. Deficiencies of any of these enzymes may be associated with hyperammonaemia, [ 32 ] though is less frequent in arginase deficiency [ 35 ].

Toxic effects of ammonia on the brain have been well described [ 36 ] and may manifest clinically as neuro-psychiatric symptoms such as agitation, mood swings, perseveration, delirium, hallucinations, seizures, ataxia, psychomotor retardation and fluctuating conscious state as well as coma. Sodium valproate, though contraindicated in pregnancy, is well known to unmask inherited UCD due to its inhibition of urea cycle enzymes [ 37 ] It is important to note that adults with genetic causes of hyperammonaemia tolerate lower plasma levels than those commonly seen in chronic liver disease and are less tolerant than neonates and children with IEM [ 36 ].

Gastrointestinal symptoms of UCD may include aversion to dietary protein, anorexia, nausea, cyclical eating patterns, and acute liver failure ALF associated with hyperammonaemia, recently reviewed by Bigot [ 33 ]. Beyond paediatric presentations, Laemmle et al. Ammonia-induced suppression of hepatic protein synthesis, mitochondrial dysfunction, damage and cell death appear to be the mechanisms involved, based on various lines of evidence, including liver biopsy [ 38 ].

The late rise in transaminases relative to ammonia elevation is a clue to the aetiology. Importantly, the liver failure is reversible with timely and appropriate treatment of hyperammonaemia, avoiding the need for liver transplantation. Prevention is by maintaining a protein intake closely matched to requirements to minimize protein catabolism, and, ensuring adequate intake of non-protein calories. Ammonia scavenging medications enhance nitrogen excretion via alternative pathways and may be used preventively as well as during acute decompensations.

A sick-day regimen, with ample non-protein calories to meet daily energy requirements is used during intercurrent illness to minimize catabolism. Management of metabolic decompensation requires monitoring of ammonia, plasma amino acids, acid base, routine bloods and neurological observations, as well investigation for the underlying cause and any potential complications. It should be noted that clinical status can change dramatically within a few hours. In severe hyperammonaemia, haemofiltration may be needed.

For further details, see references [ 32 , 39 ]. Conversely, better outcomes are observed where the UCD and pregnancy diagnosis is known. In a seminal New England Journal of Medicine case series [ 40 ], reported post-partum coma and death in previously undiagnosed OTC-deficient female carriers. Adverse pregnancy outcomes reported have been principally neurological, psychiatric or hepatic.

The importance of acute hepatic failure as a manifestation of metabolic decompensation has been not been fully appreciated until recently [ 38 ]. Such presentations, occurring at any stage in pregnancy, may have gone undiagnosed. Whether they are represented in referrals to liver transplant units is worthy of investigation. Mitochondrial dysfunction [ 69 ] and liver disease will be discussed further with fatty acid oxidation disorders in pregnancy. Complications of hyperammonaemia in pregnancy can masquerade as more common problems.

Nausea, vomiting, headaches, mood disturbance and seizures may be attributed to hormonal changes. Mental status change post-partum has been diagnosed as post-partum psychosis or depression [ 53 , 58 , 59 , 70 ]. Hyper-ammonaemic liver failure initially attributed to fatty liver of pregnancy, was considered unusual presenting in early pregnancy with hyperemesis, weight loss and prominent depression of synthetic function, [ 56 , 57 , 60 , 71 ].

Hyperemesis gravidarum HG a risk factor for metabolic decompensation, due to caloric deficit, may be both a cause, and consequence, of hyperammonaemia. Late first trimester pregnancy weight loss from hyperemesis, malnutrition and institution of parenteral nutrition in an undiagnosed OTC heterozygote has caused fatal hyperammonaemic encephalopathy [ 46 ]. Glucocorticoids recommended for HG [ 72 ], an intercurrent condition [ 56 ] or anticipated pre-term delivery [ 42 ], may aggravate a catabolic state. Understanding the metabolic adaptations to pregnancy provides a framework for understanding and anticipating the impact on an IEM.

Most reported complications occur in early pregnancy and post-partum. Progressive foetal and maternal second trimester anabolism generally confers greater metabolic stability. However, we have seen second trimester decompensation in OTC deficiency G Wilcox unpublished observations , manifest by psychiatric disturbance, and responsive to intravenous arginine infusion; deficiency of this conditionally essential amino acid likely coincided with increased protein requirements. This is consistent with accelerated maternal catabolism in late pregnancy.

Peripartum multidisciplinary planning in known patients includes clinical observation, ammonia monitoring and avoidance of prolonged fasting, using protein-free nutrition orally, or if necessary, parenterally. Mid-trimester severe liver failure as an adult presentation of an inborn error of urea cycle metabolism. Phenylketonuria PKU — an example where the main impact is on the developing foetus. Phenylketonuria, is well known, with widespread neonatal screening pioneered by Robert Guthrie and others, since the s [ 73 ].

PKU is due to absent or dysfunctional phenylalanine hydroxylase, which converts phenylalanine to tyrosine. Untreated, it leads to severe mental retardation and marked mood and behavioural disturbances [ 73 ]. Excess phenylalanine is toxic to the developing brain and completes with other large neutral amino acids e. Together with deficient tyrosine, this causes marked neurotransmitter derangement, with deficiencies of dopamine, noradrenaline and serotonin [ 74 ].

Excess phenylalanine increases oxidant stress [ 75 ], impairs cholesterol synthesis [ 75 ] and activates osteoclasts [ 76 ]. Extreme natural-protein restriction, supplemented with micronutrient-fortified phenylalanine-free amino acid-based supplements to meet nutritional requirements was instituted neonatally [ 74 ]. Close blood-spot monitoring of phenylalanine levels, maintained throughout development, has enabled attainment of near-potential IQ [ 73 ]. Adherence to such dietary stringency is difficult for many; alternative therapies e. Many adults, including women of childbearing age, are lost to follow-up, often due historically, to ceasing in adolescence or earlier [ 73 , 74 ] This is concerning as excess maternal blood phenylalanine is highly teratogenic throughout gestation.

Active placental phenylalanine transport further elevates foetal blood levels [ 16 ]. In , Charles Dent reported adverse neurological sequelae of maternal PKU in non-PKU children, suggesting toxicity of phenylalanine on foetal brain development [ 80 ]. The full maternal PKU syndrome report in , including biochemical threshold, reviewed published and unpublished data from all metabolic centres [ 81 , 82 ].

SGA was seen in in This underscores the importance of systematic data collection for rare disease registries, with pregnancy outcome including the long-term follow-up of children born to mothers with IEM. Current management was recently reviewed, revised and published in full [ 73 ]. This is based on the biochemical threshold for foetal vulnerability [ 74 ], given active placental phenylalanine transport [ 16 ]. Pregnancies should be planned, and diet started preconception [ 73 , 74 ]. Phenylalanine control generally improves once nausea settles, second trimester protein tolerance increases with maternal and foetal anabolism, and third trimester foetal uptake of phenylalanine parallels accelerated growth, lowering maternal levels [ 84 ].

BH4 may complement existing management, if accessible, and the mother responsive [ 74 , 78 , 79 ]. Post-partum resumption of usual diet is commonplace. Neuropsychiatric symptoms coincident with accelerated catabolism post-partum and high protein intake were reported anecdotally personal communication Ian Chapman. Formal studies of post-natal depression in PKU are awaited.

Breastfeeding is not contraindicated [ 73 ]. These conditions may differ in clinical features and severity [ 86 , 87 , 88 ] but all are associated with elevated homocysteine levels and increased thrombosis risk. Management includes co-factor replacement where relevant e. B6 for B6 responsive CBS deficiency [ 86 ], folate for MTHFR deficiency [ 87 ] and B12 for Cbl C disease [ 88 ] , betaine to enhance remethylation to methionine, and protein restriction if appropriate with provision of methionine—free amino acid supplementation [ 86 ].

The impact and management of these conditions in pregnancy has been reviewed previously [ 5 , 86 , 89 ]; the main complications are maternal venous thromboembolism during pregnancy and post-partum [ 90 ]. MTHFR polymorphisms AC [ 91 ] and CT which are relatively mild and common in the general population have been variably associated with recurrent miscarriage, [ 92 , 93 , 94 , 95 , 96 ] and reduced in-vitro fertilization success [ 97 ].

Since protein requirements increase during pregnancy, protein restrictions in place need adjustment to meet nutritional requirements. This converts the BCAA derived keto-acids into their respective Coenzyme A derivatives for subsequent mitochondrial energy production [ 98 , 99 , ]. Of the BCAA, leucine is particularly neurotoxic [ ], with isoleucine and valine significantly attenuating this [ ].

Clinical severity varies depending on the degree and type of enzyme deficiency. The most severe forms present neonatally, before newborn screening results return. Newborn screening NBS programs should improve this outcome, long-term [ ]. However, most women currently of childbearing age may not have been screened neonatally for MSUD. Presentations may vary according to age of symptom onset. Ketosis with raised BCAA, nausea, vomiting and progressive encephalopathy are characteristic: irritability, ataxia, hyponatraemia, brain oedema, coma and death may occur if untreated [ ]. Management is by dietary restriction of natural protein, supplemented with BCAA-free fortified amino acid and valine supplements with strict monitoring of BCAA levels.

Milder forms of MSUD may be thiamine responsive [ 99 ]. In pregnancy, the risk periods are in the first trimester, where nausea and vomiting may result in catabolism from inadequate calorie intake, and post-partum when uterine involution increases the free amino acid pool. Intercurrent infections at any stage, and delivery by labour or caesarian section represent additional catabolic stressors. Though rats, leucine-exposed neonatally, display long-term neuro-behavioural disturbance [ ], no adverse outcomes are yet described in the children of mothers with MSUD, despite poor compliance and suboptimal metabolic control in some [ ].

Leucine requirements increase disproportionately during late pregnancy [ 17 ], which may be protective. Clearly longer-term follow-up of such offspring is warranted. Precursor amino acids are leucine for IVA, and valine, methionine, isoleucine and threonine, in addition to odd-chain-length fatty acids, for PA and MMA [ ]. These conditions have typically presented neonatally or in infancy with acute metabolic decompensation associated with anorexia, nausea, vomiting, high anion gap metabolic acidosis and hyperammonaemia leading to coma if untreated [ ].

Complications may appear in the post-acute recovery phase. Basal ganglia damage, neuropsychiatric symptoms, cardiomyopathy, pancreatitis, and more chronically, renal failure, may occur, especially in MMA [ , ]. Many of these latter complications may represent mitochondrial dysfunction, since the toxic byproducts may accumulate intra-mitochondrially [ ]. However, most women currently of childbearing age have been born prior to expanded NBS. Management is by natural protein restriction and supplementation with non-precursor amino acids. Carnitine is prescribed to enhance renal excretion of these short-chain fatty acids isovaleric acid or propionic acid.

Some forms of MMA are vitamin B12 responsive and, with appropriate dosing, do not need significant dietary restriction [ , ]. There are currently no studies to establish if subfertility is a problem or not. Potential challenges include maintaining adequate caloric intake, especially in PA and MMA where anorexia is common even in the non-pregnant state [ ], and avoidance of catabolism throughout pregnancy, labour, and the post-partum period, by providing adequate non-protein calories [ 4 ]. Titration of protein intake and carnitine dosage may be needed alongside close metabolic and nutritional monitoring [ 4 , , ].

IVA: There are four published case reports of isovaleric acidaemia in 8 pregnancies [ , , , ]. These were all successful and uncomplicated without post-partum decompensation. Plasma acyl carnitine monitoring showed variable decreases in gestational isovaleryl carnitine, reflecting decreased isovaleryl-CoA, from the second trimester as plasma leucine levels fell consistent with increased foetal anabolism, potentially conferring greater maternal metabolic stability [ , ].

PA: There are currently 7 reported pregnancies in the literature [ 4 , , ], including 6 reviewed by Schwoerer et al. Four of these were uncomplicated and none experienced post-partum metabolic decompensation. Two pregnancies in one woman were significantly pre-term, with pre-eclampsia in both, and IUGR in one. Mungan et al. Unreported successful pregnancies have occurred [ ]. Current reports are insufficent to preclude a pregnancy risk nor determine whether the pre-eclampsia, IUGR and pre-term births reported by Schwoerer et al.

These reports encompass a spectrum of severity of MMA subtypes [ 4 , , , ], including one patient post renal transplant [ ]. These previously diagnosed patients were maintained on usual therapies including carnitine and vitamin B12, where applicable and given IV glucose [ ] or protein-free PN, peri-partum.

Whether or not these obstetric complications relate to placental mitochondrial dysfunction in MMA warrants exploration. The long-term outcome of offspring from these pregnancies is to date unremarkable [ ].

Journal of Thyroid Research

Despite optimal therapy, homocysteine remains elevated with attendant thromobosis, hence pregnancy, risk [ 88 ]. Case reports of successful pregnancy with maintenance of high-dose cobalamin therapy and appropriate thromboprophylaxis, e. Of note, nitrous oxide anaesthesia should be avoided given its toxic effect on B12 metabolism [ 88 ]. This group of disorders are principally manifest by chronic neurological symptoms [ ]. Glutaric aciduria Type 1 Ga1 , is the best characterized. An intra-mitochondrial disorder of lysine and tryptophan metabolism, its presentation is varied.

Febrile illnesses in early childhood may trigger encephalopathic crises resulting striatal damage and complex movement disorders [ ]. NBS data has broadened the phenotypic spectrum and improved outcome [ ]. Three case reports of 4 well-managed pregnancies, 2 delivered by caesarean section, are reported [ 4 , , ]. Screening programs have identified asymptomatic women with apparently unremarkable pregnancy histories [ ]. Three further untreated pregnancies in two women are reported. Neonatal carnitine deficiency lead to maternal GA1 diagnosis in one [ ].

Disorders of carbohydrate metabolism encompass the glycogen storage diseases GSD , disorders of fructose metabolism, galactosaemia and congenital disorders of glycosylation CDG [ 32 ]. There are 20 described GSD differentially affecting liver, muscle, heart and brain [ ]. Longer-term complications have emerged from the underlying conditions and their treatment. Pregnancy is problematic in hepatic GSD due to increased glucose demands and energy requirements, especially in GSD1, where glycaemia is totally dependent on exogenous glucose [ , , ].

Maternal hepatic adenomata did not increase in this case series. Progression of hepatic adenomata has been reported in GSD1b [ ]. Survival in GSD 1b glucosephosphatase translocase deficiency , associated with neutrophil dysfunction, has followed availability of GCSF. How this impacts on already increased protein requirements late gestation [ 8 ] has not yet been studied.

Further uncomplicated C-section deliveries [ ] with IV glucose [ , ], are reported; C-section plus calf compression, without IV glucose, was complicated by compartment syndrome post-partum [ ]. Retrospective review of 21 pregnancies by Findlay et al. Late gestational increased maternal lipid catabolism may be protective [ ].

This is associated with ovarian failure which may be primary or cause early secondary ovarian failure [ , , ]. The exact mechanisms remain unclear but possibly occur in intrauterine life; secondary disturbances in glycosylation may occur [ ]. Successful spontaneous pregnancies have occurred, even with absent AMH [ ], and apparently without complications [ ].

Disorders of fructose metabolism include hereditary fructose intolerance HFI which may also be associated with secondary disturbance on glycosylation. One case report postulates maternal heterozygosity and gestational fructose ingestion leading to congenital abnormalities in a HFI affected foetus [ ]. HFI symptoms, seen in homozygotes for the Aldolase B mutation, are generally prevented by complete dietary fructose exclusion.

Pregnancies with HFI are reported and, with fructose aversion, unremarkable [ ]. Fructose 1,6 bisphosphatase deficiency is a disorder of gluconeogenesis manifest by hypoglycaemia and lactic acidosis, triggered by fructose ingestion or fasting.


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Krishnamurthy et al. Congenital disorders of glycosylation are frequently associated with reduced fertility possibly due to altered glycosylation of peptide hormones [ ]. This represents an example of a foetal IEM affecting the mother. This LDL synthesis disorder severely impairs absorption, transport and delivery of cholesterol and fat-soluble vitamins, especially Vitamin E. Treatment requires administration of high-dose fat-soluble vitamins.

Adverse pregnancy outcomes are reported with poor compliance to fat soluble vitamin replacement [ , , ]. Conversely successful outcome has been reported with adequate vitamin replacement and monitoring [ ]. Vitamin A replacement should be continued to maintain adequate levels, as deficiency, as well as excess, can result in adverse foetal outcome [ ]. Substantially increasing energy requirements during pregnancy, particularly for mitochondrial-rich organs such as heart, kidneys, liver and placenta, renders energy supply pivotal. Mitochondrial energy metabolism may be affected by disorders of ketogenesis and ketolysis, mitochondrial fatty acid oxidation, and disorders of the respiratory chain including those resulting from maternally-inherited mitochondrial DNA mutations [ 32 ].

Variable pregnancy outcomes have been reported in this group [ ]. Early gestational fasting ketone availability and utilization is critical, especially if nausea and vomiting limits intake. A successful pregnancy was managed with L-carnitine, protein-intake adjustment and glucose calories [ ]. This provided sufficient calories in the face of potent catabolic stress and increased energy requirements [ ].

Defects of ketolysis can result in excessive ketosis. Emergency C-section at term for foetal bradycardia was reported in a woman with beta-ketothiolase deficiency [ ]. These disorders, and pregnancy considerations, are reviewed [ ]. These disorders exemplify how a foetal IEM may impact on the mother, and the insights a rare condition may bring to the wider field.

The straight arrows represent products and bent arrows represent the involvement of co-factor in this enzyme-catalyzed reaction. Fetal long chain 3-hydroxy acyl-CoA dehydrogenase LCHAD deficiency results in accumulation of 3-hydroxy fatty acids in the placenta, since the fetal part of placenta is identical to the genetic makeup of the fetus. Increased accumulation of placental free fatty acids and 3-hydroxy fatty acyl-CoA cause oxidative stress, mitochondrial dysfunction and placental lipotoxicity.

Further, lipolysis induced in the third trimester of pregnancy would also trigger the accumulation of fatty acid intermediates, which are shunted from the placenta to the maternal circulation, where they can promote oxidative and nitrosative stress. These fatty acid intermediates reach the maternal liver resulting in microvesicular steatosis, hepatic mitochondrial dysfunction and hepatocyte lipoapoptosis. Published online Jan Urea Cycle Disorders c :. Organic acidaemias d :. Mitochondrial FAOD b :. Cerebral organic acidaemias d :.

Pregnancy was initially uncomplicated. Acylcarnitine profile, improved in early pregnancy, had deteriorated, likely reflecting late gestational accelerated lipolysis [ ]. Interestingly maternal VLCAD may stabilize with an unaffected foetus demonstrating the quantitative importance of placental beta oxidation of long chain fatty acids [ 23 , 25 , , ]. Systemic carnitine deficiency in pregnancy has been associated with decreased stamina and cardiac arrhythmia [ ].

Pregnancy complications are reported in mitochondrial IEM. A retrospective case series by De Laat [ ] reports premature delivery rates of Other case reports include neuromuscular deterioration and lactic acidosis [ ], status epilepticus [ ], pulmonary oedema [ ], pre-eclampsia [ , ] with magnesium sulphate infusion sensitivity [ ] and post-partum pulmonary embolism [ ].

These complications likely represent precarious placental function in mitochondrial disease and gestational energetic strain on vital maternal organs. Chloroplast-derived phytanic acid, from ruminant fat, cannot be metabolized, accumulating in the nervous system affecting hearing, retinal function, peripheral nerves.

Mood disturbance and pregnancy: pros and cons of pharmacologic treatment

There are, currently, recombinant lysosomal enzyme replacement therapies ERT for many of these conditions as well as emerging treatments such as substrate reduction, chaperone and gene therapies [ ]. Successful pregnancies are reported, including for Gaucher [ , ], Fabry [ ], Pompe [ ] and MPS disorders [ , , ]. ERTs do not cross the placenta and have been given in pregnancy without complications [ , , ].

Disease-specific registries exist, from which basic pregnancy data could be derived. Pompe disease has been associated with transiently worsening muscle weakness late gestation [ ]. Patients with MPS now reach adulthood in increasing numbers; the pregnancy experience in this group was recently reviewed [ ]. This review is not exhaustive and there remain significant gaps in the literature, with many pregnancies not recorded; some areas reviewed elsewhere are not covered here and others where information is extremely limited.

There is an urgent need for systematic data collection with an international registry of all pregnancies, and follow-up of all offspring, associated with maternal IEM.

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Long-term benefits of expanded newborn screening programs should be examined. Undiagnosed IEM may need consideration where there is hyperemesis gravidarum, liver failure or neuropsychiatric disturbance. The convergence of understanding between complications of various IEM in pregnancy, as well as acquired disorders, is intriguing. Advancing the pathophysiology and management of these rare IEM may illuminate mechanisms underlying more common conditions such as pre-eclampsia, gestational diabetes, and intra uterine growth retardation.

Informed consent was obtained from those individuals presented in case reports cited and authored by the author. Identifiable individual data has been removed from unpublished data presented. Skip to main content Skip to sections. Advertisement Hide. Download PDF. Impact of pregnancy on inborn errors of metabolism. Open Access.

First Online: 10 September Current knowledge of body composition in pregnancy, as well as relevant methodology, has been reviewed [ 6 ]. Open image in new window. Amino acids are actively and differentially transported across the placenta [ 15 , 16 ] supporting foetal growth, while maternal plasma amino acid levels are progressively lowered [ 8 , 17 ] Fig.

These changes are evidenced by recent metabolomic studies [ 18 ]. The differential between maternal and foetal plasma amino acid levels varies between individual amino acids and across trimesters. This has implications for inherited inborn errors of protein metabolism, such as phenylketonuria, in pregnancy, where foetal uptake is greater relative to some other amino acids. Its major role is to convert ammonia generated from excess protein intake or catabolism into urea. The urea cycle also regulates acid-base balance, consuming bicarbonate, and generates the amino acids citrulline, arginine and ornithine.

Urea cycle dysfunction may occur where activity of any of the six enzymes, or their required transporters, co-factors or energy as ATP is lacking. The first three urea cycle enzymes are intra-mitochondrial while the remaining enzymes are cytosolic, Fig. Most hyperammonaemic decompensations have been reported post-partum. The strength of catabolic drive from days 3—11 is such, that metabolic instability may still occur despite proactive appropriate management [ 4 ] Table 1.

Additional catabolic stress may result from caesarian section, birth trauma, infection e. Blood transfusion may represent an added protein load. Breast feeding is possible so long as caloric intake is adequate. Table 1 summarizes largely previously unpublished experience from an historical case series. Table 1 Historical case series of pregnancies in women with urea cycle disorders.

Contemporary management Current management was recently reviewed, revised and published in full [ 73 ]. Disorders of fructose metabolism Disorders of fructose metabolism include hereditary fructose intolerance HFI which may also be associated with secondary disturbance on glycosylation. Abetalipoproteinaemia This LDL synthesis disorder severely impairs absorption, transport and delivery of cholesterol and fat-soluble vitamins, especially Vitamin E.

Incomplete mitochondrial beta-oxidation leaves residual substrate being catalyzed by alternative pathways in peroxisomes and microsomes. Peroxisomal, unlike mitochondrial, beta-oxidation, does not yield ATP. Instead, by-products of blocked pathways yield peroxide radicals and other pro-oxidant species, further compromising placental mitochondrial function. Since foetal and maternal placental circulations, are juxtaposed, toxic by-products freely enter the maternal circulation where effects on foetal sub-cellular metabolism are mirrored in maternal organs [ 21 , 29 ] Fig.

The maternal LCHAD heterozygote may be more vulnerable to mitochondrial dysfunction, including beta-oxidation [ 29 ]. Compromised hepatic mitochondrial function likely underlies acute fatty liver of pregnancy AFLP [ ]. Other maternal organs may be affected. Pancreatitis, renal dysfunction and cerebral effects may be seen [ 29 ]. Other foetal [ , , , ] and maternal [ , ] FAOD are reported with these syndromes.

Table 2 Mitochondrial dysfunction in IEM with implications for pregnancy. Table 3 Acquired causes of mitochondrial dysfunction which may impact on pregnancy. Informed consent Informed consent was obtained from those individuals presented in case reports cited and authored by the author. The frequencies of different inborn errors of metabolism in adult metabolic Centres: Report from the SSIEM adult metabolic physicians group.

JIMD Rep. Hollak C, Lachmann R. In: Hollak C, Lachmann R, editors. Inherited metabolic disease in adults: a clinical guide Oxford monographs on medical genetics. Oxford: Oxford University Press; Google Scholar. Erikson EH, editor. Youth: change and challenge. New York: Basic Books; A series of pregnancies in women with inherited metabolic disease.

J Inherit Metab Dis. Murphy E. Medical problems in obstetrics: Inherited metabolic disease. Widen EM, Gallagher D. Body composition changes in pregnancy: Measurement, predictors and outcomes. King JC. Physiology of pregnancy and nutrient metabolism. No part of this presentation may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording or by any information storage and retrieval system without permission in writing from the American Society for Reproductive Medicine, Montgomery Highway, Birmingham, AL Stress can come from just about anything that you feel is threatening or harmful.

A single event or your worry about it can produce stress. So can the little things that worry you all day long. Acute stress, caused by a single event or your fear of it , makes your heart beat faster and your blood pressure go up. You breathe harder, your hands get sweaty, and your skin feels cool and clammy. Chronic stress, which is when you are always stressed, can cause depression and changes in your sleep habits.

It can also decrease your chances of fighting off common illnesses. Stress makes many body organs work harder than normal and increases the production of some important chemicals in your body, including hormones. Is stress causing my infertility? Probably not. Even though infertility is very stressful, there isnt any proof that stress causes infertility. In an occasional woman, having too much stress can change her hormone levels and therefore cause the time when she releases an egg to become delayed or not take place at all.

Is infertility causing my stress? Many women who are being treated for infertility have as much stress as women who have cancer or heart disease. Infertile couples experience stress each month: first they hope that the woman is pregnant; and if she is not, the couple has to deal with their disappointment. Most couples are used to planning their lives. They may believe that if they work hard at something, they can achieve it.

So when its hard to get pregnant, they feel as if they dont have control of their bodies or of their goal of becoming parents. With infertility, no matter how hard you work, it may not be possible to have a baby. Infertility tests and treatments can be physically, emotionally, and financially stressful. Infertility can cause a couple to grow apart, which increases stress levels.

Couples may have many doctor appointments for infertility treatment, which can cause them to miss work or other activities. What can I do to reduce my stress? Talk to your partner. Realize youre not alone. Talk to other people who have infertility, through individual or couple counseling, or support groups.

Read books on infertility, which will show you that your feelings are normal and can help you deal with them. Learn stress reduction techniques such as meditation, yoga, or acupuncture. Avoid taking too much caffeine or other stimulants. Exercise regularly to release physical and emotional tension. Have a medical treatment plan with which both you and your partner are comfortable. Learn as much as you can about the cause of your infertility and the treatment options available.

Find out as much as you can about your insurance coverage and make financial plans regarding your fertility treatments. Who can help us? For information on local chapters, you can reach them at Broadway, Somerville, Massachusetts ; Also, support information and weekly Internet chat sessions can be found through the American Fertility Association at www. Copyright by the American Society for Reproductive Medicine. How do doctors decide if a man might have a fertility problem?

For many years, experts have focused on semen analysis, but research studies show that the number of sperm count and the movement of sperm motility do not always predict fertility very well by themselves. It may also be useful to look at the shape of the sperm morphology , which is also one of the important parts of the semen evaluation. An updated way of determining sperm shape is called the Krugers strict morphology method. Kruger morphology is a useful system that helps doctors determine if a sperm is normally shaped or not.

It was originally used to predict the success of in vitro fertilization IVF , a fertility treatment in which the sperm are mixed with the womans egg in a laboratory. More recently, it has been used to tell if intracytoplasmic sperm injection ICSI is a necessary treatment. ICSI is a procedure that helps a sperm fertilize an egg by injecting a single sperm directly into the center of the egg. Even though it is used for these purposes, not all physicians and scientists are sure that strict morphology method alone predicts success with IVF or whether it indicates the need for ICSI.

Characteristics of normal sperm. A normal sperm has: a smooth, oval shaped head that is 56 micrometers long and 2. Pregnancy and Birth Sourcebook, Third Edition no fluid droplets in the sperm head that are bigger than onehalf of the sperm head size. Intercourse versus artificial insemination. For patients with fertility problems, sperm morphology may have an effect on your ability to achieve a pregnancy. In vitro fertilization. A successful pregnancy using IVF depends on many of factors: how many eggs are fertilized, whether the fertilized eggs grow into embryos, and whether the embryo implants in the womans uterus.

Frequently Asked Questions If an abnormally shaped sperm fertilizes the egg, does that mean that my child will have genetic abnormalities? Theres no scientific link between the shape of a sperm and its chromosomal content. Once the sperm penetrates the egg, fertilization has a good chance of taking place. However, there may be some male offspring who will inherit the same type of morphology abnormalities. Whether routine investigation of Y-chromosome abnormalities should be initiated when low morphology is noted is controversial. Are there any substances that I can reduce or eliminate exposure to e.

Studies havent shown a clear link between abnormal sperm shape and these factors, but its a good idea to try to eliminate use of tobacco and recreational drugs and limit your consumption of alcohol. These substances reduce sperm production and function in several ways. They may hurt sperm DNA material that carries your genes quality. Studies have not shown a clear link between caffeine consumption and changes in sperm shape. Are there any dietary supplements or vitamins that I can take to improve morphology?

Dietary supplements or vitamins have not been clearly shown to improve sperm morphology. Some specialists do recommend that you Factors That Affect Fertility take a daily multivitamin to improve a number of body functions, including reproductive health. Reprinted with permission.

Reviewed by David A. This text talks about the risks that paternal exposures can have during pregnancy. This information should not take the place of medical care and advice from your health care provider. What is a paternal exposure? A paternal exposure is anything the father of the baby is exposed to before conception or during his partners pregnancy. Examples include recreational drugs, alcohol, cigarette smoking, chemotherapy or radiation treatments, environmental or occupational exposures, and prescription or over-the-counter medications. Do paternal exposures cause any problems related to pregnancy?

Certain exposures may affect a mans ability to father a child by changing the production, size, shape, or performance of sperm. Such changes may cause infertility, delay in getting his partner pregnant, or early pregnancy loss. Data from animal and human studies suggest that paternal exposures may cause genetic changes in sperm which may cause an embryo to fail to develop or cause an increased risk for childhood cancers in an exposed mans children.

Agents that may cause birth defects do not reach the developing fetus through the father as they do from the pregnant woman. Substances that a father is exposed to may be found in small amounts in the semen, but there is no evidence that these small amounts interfere with normal fetal development. Currently, there is no evidence that paternal exposures increase the risk of birth defects. However, further study is needed in this area. Can recreational drugs, if used by the father, affect my pregnancy? These substances may be found in the semen. Recreational drug use may affect sperm quality or provide limited direct exposure to the developing fetus.

However, there is no clear evidence that birth defects may result from the use of these substances by the father. Can alcohol use by the father affect my chances of getting pregnant or affect the baby during pregnancy? Heavy alcohol use in males may affect sperm formation and function, or may cause impotence. Whether a fathers alcohol use increases the risks for birth defects is still being investigated.

A recent study suggested that paternal alcohol use may be associated with an increased risk for certain rare heart defects in newborns. More information is needed in this area before a conclusion can be made. What if the father of the baby smokes cigarettes? Paternal smoking has been associated with small reductions in sperm quality, but there have been no reports of reduced fertility due to smoking in men. A small association between adverse pregnancy effects and paternal smoking, and a slight increase in certain types of cancer in offspring of smoking fathers has been seen.

One study on a small number of babies born with rare heart defects found an association with paternal smoking. Additional studies on the effects of paternal smoking on pregnancy outcome are needed. Can chemotherapy or radiation for cancer treatments given to the father affect my pregnancy? Sperm production is frequently affected during cancer treatment. Sometimes, sperm production may return to normal after certain chemotherapy or radiation treatments, but it is not guaranteed.

Factors That Affect Fertility Men who are facing cancer treatment may wish to consider sperm banking prior to starting treatment. It is recommended that men undergoing chemotherapy wait for at least three months after the end of treatment before attempting to father a child. Certain chemotherapy treatments have been shown to increase the chance of having a fetus with more or less than the normal number of chromosomes. Damage to the structure of chromosomes in sperm of cancer patients may also occur. It is believed that most of the damage is not permanent, but some studies have detected higher than normal levels of abnormal sperm years after the end of chemotherapy.

At this time, there are no data demonstrating an increase in birth defects in the children of cancer patients. Can the fathers workplace exposures affect my pregnancy? According to the National Institute of Occupational Safety and Health NIOSH , a number of workplace substances including lead, organic solvents, pesticides, and radiation have been identified as reproductive hazards to men.

Some studies in humans suggest that such exposures may be associated with decreased sperm production, increased sperm abnormalities, decreased fertility, and an increased risk of miscarriage in the wives of these workers. In addition, men exposed to heavy metals, pesticides, and other chemicals in the workplace may carry very small amounts of these agents on their clothes and shoes into the home. This may cause direct exposure of their partner prior to conception or during pregnancy. However, no data are available at this time regarding any increases in birth defects due to such exposures.

Further studies are needed in these areas. Can prescription or over-the-counter medications taken by the father affect my pregnancy? Paternal exposure to medications prescribed for conditions like high blood pressure or high cholesterol have not been associated with an increased risk of birth defects in the developing fetus. Likewise, over-the-counter medications to treat other conditions have not been associated with an increased risk of birth defects. However, it is important to discuss any concerns you may have with your physician.

References Brent R, et al. Ionizing and nonionizing radiations. Baltimore, MD. Paternal contribution to birth defects. Nurs Clin North Amer Colie CF Male mediated teratogenesis. Reprod Toxicol Correa-Villasenor A, et al. Paternal exposures and cardiovascular malformations. Generoso WM, et al. Concentration-response curves for ethylene oxide-induced heritable translocations and dominant lethal mutations. Environ Mol Mutagen Dominant lethal and heritable translocation tests with chlorambucil and melphalan in male mice.

Mutat Res Hunt PA. Ethanol-induced aneuploidy in male germ cells of the mouse. Cytogenet Cell Genet 44 1 Jensen BK, e al. The negligible availability of retinoids with multiple and excessive topical application of isotretinoin 0. J Am Acad Dermatol J Natl Cancer Inst Obe G and Anderson D. Genetic effects of ethanol. Mutat Res 3 : Pearn JH. Teratogens and the male. Med J of Austr Sallmen M, et al. Occup Environ Med Epidemiol 11 2 Time to pregnancy among the wives of men exposed to organic solvents.

Occup Environ Med. Savitz DA, et al. Influence of paternal age, smoking, and alcohol consumption on congenital anomalies. Teratology Shelby MD, et al. Dominant lethal effects of acrylamide in male mice. Steinberger EK, et al. Infants with single ventricle: a population based epidemiological study. Teratology 65 3 Taskinen H, et. Spontaneous abortions and congenital malformations among the wives of men occupationally exposed to organic solvents. Scand J Work Environ Health Tielemans E, et. Occupationally related exposures and reduced semen quality: a case-control study.

Fert Steril Trasler JM and Doerksen T. Teratogen update: Paternal exposures reproductive risks. Teratology 60 3 Vine MF. Smoking and male reproduction: a review. Int J Androl 10 6 Chapter Contents Section 5. Department of Health and Human Services, April Fertility Awareness The Menstrual Cycle Being aware of your menstrual cycle and the changes in your body that happen during this time can be key to helping you plan a pregnancy, or avoid pregnancy.

During the menstrual cycle a total average of 28 days , there are two parts: before ovulation and after ovulation. Day 1 starts with the first day of your period. Usually by Day 7, a womans eggs start to prepare to be fertilized by sperm. Between Day 7 and 11, the lining of the uterus womb starts to thicken, waiting for a fertilized egg to implant there. Around Day 14 in a day cycle , hormones cause the egg that is most ripe to be released, a process called ovulation. The egg travels down the fallopian tube towards the uterus.

If a sperm unites with the egg here, the egg will attach to the lining of the uterus, and pregnancy occurs. If the egg is not fertilized, it will break apart. Around Day 25 when hormone levels drop, it will be shed from the body with the lining of the uterus as a menstrual period. The first part of the menstrual cycle is different in every woman, and even can be different from month-to-month in the same woman, varying from 13 to 20 days long. This is the most important part of the cycle to learn about, since this is when ovulation and pregnancy Trying to Conceive can occur.

After ovulation, every woman unless she has a health problem that affects her periods will have a period within 14 to 16 days. Charting Your Fertility Pattern Knowing when youre most fertile will help you plan or prevent pregnancy. There are three ways you can keep track of your fertile times.

They are: Basal body temperature method: Basal body temperature is your temperature at rest as soon as you awake in the morning. A womans basal body temperature rises slightly with ovulation. So by recording this temperature daily for several months youll be able to predict your most fertile days. Basal body temperature differs slightly from woman to woman. Anywhere from 96 to 98 degrees orally is average before ovulation. After ovulation most women have an oral temperature between 97 and 99 degrees.

The rise in temperature can be a sudden jump or a gradual climb over a few days. Usually a womans basal body temperature rises by only 0. To detect this tiny change, women must use a basal body thermometer. These thermometers are very sensitive. You then record your temperature on a special chart.

The rise in temperature doesnt show exactly when the egg is released. But almost all women have ovulated within three days after their temperatures spike. Body temperature stays at the higher level until your period starts. You are most fertile and most likely to get pregnant: two to three days before your temperature hits the highest point ovulation , and 12 to 24 hours after ovulation. A mans sperm can live for up to three days in a womans body. The sperm can fertilize an egg at any point during that time.

So if you have unprotected sex a few days before ovulation there is a chance of becoming pregnant. Many things can affect basal body temperature. To get the most useful chart you should take your temperature every morning at about the same time. Things that can alter your temperature include: drinking alcohol the night before; Pregnancy and Birth Sourcebook, Third Edition smoking cigarettes the night before; getting a poor nights sleep; having a fever; doing anything in the morning before you take your temperatureincluding going to the bathroom and talking on the phone.

Calendar method: This involves keeping a written record of each menstrual cycle on a calendar. The first day of your period is Day 1. Circle Day 1 on the calendar. Do this for eight to 12 months so you know how many days are in your cycle. The length of your cycle may vary from month to month. So write down the total number of days it lasts each time. To find out the first day when you are most fertile, check your list for the cycle with the fewest days. Then subtract 18 from that number. Take this new number and count ahead that many days on the calendar. Draw an X through this date.

The X marks the first day youre likely to be fertile. To find out the last day when you are fertile, subtract 11 days from your longest cycle and draw an X through this date. This method always should be used with other fertility awareness methods, especially if your cycles are not always the same lengths.

Cervical mucus method also known as the ovulation method : This involves being aware of the changes in your cervical mucus throughout the month. The hormones that control the menstrual cycle also change the kind and amount of mucus you have before and during ovulation. Right after your period, there are usually few days when there is no mucus present or dry days. As the egg starts to mature, mucus increases in the vagina, appears at the vaginal opening, and is white or yellow and cloudy and sticky.

The greatest amount of mucus appears just before ovulation. During these wet days it becomes clear and slippery, like raw egg whites. Sometimes it can be stretched apart. This is when you are most fertile. About four days after the wet days begin the mucus changes again. There will be much less and it becomes sticky and cloudy.

You might have a few more dry days before your period returns. Describe changes in your mucus on a calendar. Label the days, Sticky, Dry, or Wet. You are most fertile at the first sign of wetness after your period or a day or two before wetness begins. This method is less reliable for some women. Women who are breastfeeding, taking hormonal contraceptives like the pill , using feminine hygiene products, have vaginitis or sexually transmitted diseases STDs , or have had surgery on the cervix should not rely on this method.

Trying to Conceive To most accurately track your fertility, use a combination of all three methods. This is called the symptothermal method. Infertility It is not uncommon to have trouble becoming pregnant or to experience infertility.


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Infertility is defined as not being able to become pregnant, despite trying for one year, in women under age 35, or after six months in women 35 and over. Pregnancy is the result of a chain of events. As described in the Fertility Awareness section, a woman must release an egg from one of her ovaries ovulation. The egg must travel through a fallopian tube toward her uterus. A mans sperm must join with fertilize the egg along the way. The fertilized egg must then become attached to the inside of the uterus. While this may seem simple, in fact many things can happen to prevent pregnancy.

Reasons for Infertility Age There are many different reasons why a couple might have infertility. One is age-related. Women today are often delaying having children until later in life, when they are in their 30s and 40s. A couple of things add to this trend. Birth control is easy to obtain and use, more women are in the work force, women are marrying at an older age, the divorce rate remains high, and married couples are delaying pregnancy until they are more financially secure.

But the older you are, the harder it is to become pregnant. Women generally have some decrease in fertility starting in their early 30s. And while many women in their 30s and 40s have no problems getting pregnant, fertility especially declines after age As a woman ages, there are normal changes that occur in her ovaries and eggs. All women are born with over a million eggs in their ovaries all the eggs that they will ever have , but only have about , left by puberty.

Then of these, only about eggs will be ovulated during the reproductive years. Even though menstrual cycles continue to be regular in a womans 30s and 40s, the eggs that ovulate each month are of poorer quality than those from her 20s. It is harder to get pregnant when the eggs are poorer in quality. Ovarian reserve is the number and quality of eggs in your ovaries and how well the ovarian follicles respond to hormones in your body.

As you approach menopause, your ovaries dont respond as well to Pregnancy and Birth Sourcebook, Third Edition your hormones, and in time they may not release an egg each month. A reduced ovarian reserve is natural as a woman ages, but young women might have reduced ovarian reserves due to smoking, a prior surgery on their ovaries, or a family history of early menopause. Also, as a woman and her eggs age, if she becomes pregnant, there is a greater chance of having genetic problems, such as having a baby with Down syndrome.

Embryos formed from eggs in older women also are less likely to fully develop, a main reason for miscarriage early pregnancy loss. Health Problems Couples also can have fertility problems because of health problems, in either the woman or the man. Common problems with a womans reproductive organs, like uterine fibroids, endometriosis, and pelvic inflammatory disease can worsen with age and also affect fertility.

These conditions might cause the fallopian tubes to be blocked, so the egg cant travel through the tubes into the uterus. Some people also have diseases or conditions that affect their hormone levels, which can cause infertility in women and impotence and infertility in men. Polycystic ovarian syndrome PCOS is one such hormonal condition that affects many women, and is the most common cause of anovulation, or when a woman rarely or never ovulates. Another hormonal condition that is a common cause of infertility is when a woman has a luteal phase defect LPD.

A luteal phase is the time in the menstrual cycle between ovulation and the start of the next menstrual period. LPD is a failure of the uterine lining to be fully prepared for a fertilized egg to implant there. This happens either because a womans body is not producing enough progesterone, or the uterine lining isnt responding to progesterone levels at some point in the menstrual cycle. Since pregnancy depends on a fertilized egg implanting in the uterine lining, LPD can interfere with a woman getting pregnant and with carrying a pregnancy successfully.

Certain lifestyle choices also can have a negative effect on a womans fertility, such as smoking, alcohol use, weighing much more or much less than an ideal body weight, a lot of strenuous exercise, and having an eating disorder. Unlike women, some men remain fertile into their 60s and 70s.

But as men age, they might begin to have problems with the shape and movement of their sperm, and have a slightly higher risk of sperm gene defects. They also might produce no sperm, or too few sperm. Lifestyle choices also can affect the number and quality of a mans Trying to Conceive sperm. Alcohol and drugs can temporarily reduce sperm quality. And researchers are looking at whether environmental toxins, such as pesticides and lead, also may be to blame for some cases of infertility.

Men also can have health problems that affect their sexual and reproductive function. These can include sexually transmitted diseases STDs , diabetes, surgery on the prostate gland, or a severe testicle injury or problem. If you or your partner has a problem with sexual function or libido, dont delay seeing your doctor for help.

Treating Infertility You should talk to your doctor about your fertility if you: are under age 35 and, after a year of frequent sex without birth control, you are having problems getting pregnant; or are age 35 or over and, after six months of frequent sex without birth control, you are having problems getting pregnant; or believe you or your partner might have fertility problems in the future even before you begin trying to get pregnant. Your doctor can refer you to a fertility specialist, a doctor who focuses in treating infertility.

This doctor can recommend treatments such as drugs, surgery, or assisted reproductive technology. Dont delay seeing your doctor because age also affects the success rates of these treatments. There are many ways to treat infertility. Tests The first step to treat infertility is to see a doctor for a fertility evaluation.

He or she will test both the woman and the man to find out where the problem is. Testing on the man focuses on the number and health of his sperm. The lab will look at a sample of his sperm under a microscope to check sperm number, shape, and movement. Blood tests also can be done to check hormone levels.

More tests might be needed to look for infection or problems with hormones. These tests can include: an x-ray to look at his reproductive organs ; a mucus penetrance test to see if sperm can swim through mucus ; or Pregnancy and Birth Sourcebook, Third Edition a hamster-egg penetrance assay to see if sperm can go through hamster egg cells, somewhat showing their power to fertilize human eggs. Testing for the woman first looks at whether she is ovulating each month.

This can be done by having her chart changes in her morning body temperature, by using an FDA [U. Food and Drug Administration]-approved home ovulation test kit which she can buy at a drug store , or by looking at her cervical mucus, which changes throughout her menstrual cycle. Ovulation also can be checked in her doctors office with an ultrasound test of the ovaries, or simple blood tests that check hormone levels, like the follicle-stimulating hormone FSH test.

FSH is produced by the pituitary gland. In women, it helps control the menstrual cycle and the production of eggs by the ovaries. The amount of FSH varies throughout the menstrual cycle and is highest just before an egg is released. The amounts of FSH and other hormones luteinizing hormone, estrogen, and progesterone are measured in both a man and a woman to determine why the couple cannot achieve pregnancy. If the woman is ovulating, more testing will need to be done. These tests can include: a hysterosalpingogram an x-ray to check if the fallopian tubes are open and to show the shape of the uterus ; a laparoscopy an exam of the tubes and other female organs for disease ; and an endometrial biopsy an exam of a small shred of the uterine lining to see if monthly changes in it are normal.

Other tests can be done to show whether the sperm and mucus are interacting in the right way, or if the man or woman is forming antibodies that are attacking the sperm and stopping them from getting to the egg. Drugs and Surgery Different treatments for infertility are recommended depending on what the problem is. About 90 percent of cases are treated with drugs or surgery. Various fertility drugs may be used for women with ovulation problems. It is important to talk with your doctor about the drug to be used.

You should understand the drugs benefits and side effects. Depending on the type of fertility drug and the dosage of the drug used, multiple births such as twins can occur in some women. If Trying to Conceive needed, surgery can be done to repair damage to a womans ovaries, fallopian tubes, or uterus. Sometimes a man has an infertility problem that can be corrected by surgery. Assisted Reproductive Technology ART Assisted reproductive technology ART uses special methods to help infertile couples, and involves handling both the womans eggs and the mans sperm.

Success rates vary and depend on many factors. But ART has made it possible for many couples to have children that otherwise would not have been conceived. ART can be expensive and time-consuming. Many health insurance companies do not provide coverage for infertility or provide only limited coverage. Check your health insurance contract carefully to learn about what is covered.

Also, some states have laws for infertility insurance coverage. In vitro fertilization IVF is a type of ART that is often used when a womans fallopian tubes are blocked or when a man has low sperm counts. A drug is used to stimulate the ovaries to produce multiple eggs. Once mature, the eggs are removed and placed in a culture dish with the mans sperm for fertilization.

After about 40 hours, the eggs are examined to see if they have become fertilized by the sperm and are dividing into cells. These fertilized eggs embryos are then placed in the womans uterus, thus bypassing the fallopian tubes. Three to five eggs are placed in the fallopian tube, along with the mans sperm, for fertilization inside the womans body. The eggs retrieved from the womans ovaries are fertilized in the lab and placed in the fallopian tubes rather than the uterus. ART sometimes involves the use of donor eggs eggs from another woman or previously frozen embryos.

Donor eggs may be used if a woman has impaired ovaries or has a genetic disease that could be passed on to her baby. And if a woman does not have any eggs, or her eggs are not of a good enough quality to produce a pregnancy, she and her partner might want to consider surrogacy.

A surrogate is a woman who agrees to become pregnant using the mans sperm and her own egg. The child will be genetically related to the surrogate and the male partner, but the surrogate will give the baby to the couple at birth. Pregnancy and Birth Sourcebook, Third Edition A gestational carrier might be an option for women who do not have a uterus, from having had a hysterectomy, but still have their ovaries, or for women who shouldnt become pregnant because of a serious health problem. In this case, the womans eggs are fertilized by the mans sperm and the embryo is placed inside the carriers uterus.

In this case, the carrier will not be related to the baby, and will give the baby to the parents at birth. Counseling and Support Groups If youve been having problems getting pregnant, you know how frustrating it can feel. Not being able to get pregnant can be one of the most stressful experiences a couple has. Both counseling and support groups can help you and your partner talk about your feelings, and to help you meet other couples like you in the same situation.

You will learn that anger, grief, blame, guilt, and depression are all normal. Couples do survive infertility, and can become closer and stronger in the process. Ask your doctor for the names of counselors or therapists with an interest in fertility. Do Sexual Positions Affect Conception? Are some sexual positions better than others for conceiving? Theres no evidence that any particular sexual position is more likely to lead to conception. You may have heard that positions that deposit the sperm closest to the cervixsuch as the missionary position man on top are more promising than other positions.

But there are no studies to back this up. Proper timing, on the other hand, is a crucial factor. To make conception more likely, have sex a day or two before you expect to ovulate and then again on the day of ovulation. Will having an orgasm help my chances of conceiving? Some people believe that a woman who climaxes after her partner ejaculates is more likely to get pregnant, but theres no evidence to support this notion either. The female orgasm isnt a necessary component of conception, but it is possible that uterine contractions help sperm move toward the fallopian tubes. Such painless contractions happen involuntarily even when youre not having sex, particularly around the time of ovulation.

Should I stay lying down afterward? Theres no evidence that it makes a difference, but it cant hurt. Remaining horizontal for 15 minutes or so after intercourse allows more semen to remain in your vagina. Of course, with millions of sperm in every ejaculation, there should be plenty of sperm in your vagina even if you get up right away. Note: If youve been trying to conceive for a year or more without success or three to six months if youre 35 or older , or your periods are irregular, your best bet is to see a fertility specialist.

Food and Drug Administration, February 1, What does this test do? This is a home-use test kit to measure luteinizing hormone LH in your urine. This helps detect the LH surge that happens in the middle of your menstrual cycle, about 1 to 1 days before ovulation. Some tests also measure another hormoneestroneglucuronide E3G. What is LH? Luteinizing hormone LH is a hormone produced by your pituitary gland.

Impact of pregnancy on inborn errors of metabolism

Your body always makes a small amount of LH, but just before you ovulate, you make much more LH. This test can detect this LH surge, which usually happens 1 to 1 days before you ovulate. What is E3G? E3G is produced when estrogen breaks down in your body. It accumulates in your urine around the time of ovulation and causes your cervical mucus to become thin and slippery.

Sperm may swim more easily in your thin and slippery cervical mucus, increasing your chances of getting pregnant. What type of test is this? This is a qualitative testyou find out whether or not you have elevated LH or E3G levels, not if you will definitely become pregnant. Why should you do this test? You should do this test if you want to know when you expect to ovulate and be in the most fertile part of your menstrual cycle.

This Trying to Conceive test can be used to help you plan to become pregnant. You should not use this test to help prevent pregnancy, because it is not reliable for that purpose. How accurate is this test? How well this test will predict your fertile period depends on how well you follow the instructions.

These tests can detect LH and E3G reliably about nine times out of 10, but you must do the test carefully. How do you do this test? You add a few drops of your urine to the test, hold the tip of the test in your urine stream, or dip the test in a cup of your urine. You either read the test by looking for colored lines on the test or you put the test device into a monitor. You can get results in about 5 minutes.


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  • The details of what the color looks like, or how to use the monitor varies among the different brands. Most kits come with multiple tests to allow you to take measurements over several days. This can help you find your most fertile period, the time during your cycle when you can expect to ovulate based on your hormone levels. Follow the instructions carefully to get good results.

    You will need to start your testing at the proper time during your cycle, otherwise the test will be unreliable, and you will not find your hormonal surges or your fertile period. Is this test similar to the one my doctor uses? The fertility tests your doctor uses are automated, and they may give more consistent results.

    Your doctor may use other tests that are not yet available for home use i. Most experts define infertility as not being able to get pregnant after at least one year of trying. Women who are able to get pregnant but then have repeat miscarriages are also said to be infertile. Pregnancy is the result of a complex chain of events. In order to get pregnant: a woman must release an egg from one of her ovaries ovulation ; the egg must go through a fallopian tube toward the uterus womb ; a mans sperm must join with fertilize the egg along the way; the fertilized egg must attach to the inside of the uterus implantation.

    Infertility can result from problems that interfere with any of these steps. Department of Health and Human Services, May 1, About 12 percent of women 7. Is infertility just a womans problem? No, infertility is not always a womans problem. In only about onethird of cases is infertility due to the woman female factors. In another one third of cases, infertility is due to the man male factors. The remaining cases are caused by a mixture of male and female factors or by unknown factors. What causes infertility in men?

    Infertility in men is most often caused by: problems making spermproducing too few sperm or none at all; or problems with the sperms ability to reach the egg and fertilize itabnormal sperm shape or structure prevent it from moving correctly. Sometimes a man is born with the problems that affect his sperm. Other times problems start later in life due to illness or injury. For example, cystic fibrosis often causes infertility in men.

    What increases a mans risk of infertility? The number and quality of a mans sperm can be affected by his overall health and lifestyle. Frequently Asked Questions about Infertility radiation treatment and chemotherapy for cancer; and age. What causes infertility in women? Problems with ovulation account for most cases of infertility in women. Without ovulation, there are no eggs to be fertilized.

    Some signs that a woman is not ovulating normally include irregular or absent menstrual periods. Less common causes of fertility problems in women include: blocked fallopian tubes due to pelvic inflammatory disease, endometriosis, or surgery for an ectopic pregnancy; physical problems with the uterus; and uterine fibroids.

    What things increase a womans risk of infertility? Many things can affect a womans ability to have a baby. These include: age; stress; poor diet; athletic training; being overweight or underweight; tobacco smoking; alcohol; sexually transmitted diseases STDs ; and health problems that cause hormonal changes. How long should women try to get pregnant before calling their doctors? Most healthy women under the age of 30 shouldnt worry about infertility unless theyve been trying to get pregnant for at least a year. At this point, women should talk to their doctors about a fertility evaluation.

    Men should also talk to their doctors if this much time has passed. Pregnancy and Birth Sourcebook, Third Edition In some cases, women should talk to their doctors sooner. Women in their 30s whove been trying to get pregnant for 6 months should speak to their doctors as soon as possible. A womans chances of having a baby decrease rapidly every year after the age of So getting a complete and timely fertility evaluation is especially important. Some health issues also increase the risk of fertility problems. So women with the following issues should speak to their doctors as soon as possible: irregular periods or no menstrual periods; very painful periods; endometriosis; pelvic inflammatory disease; and more than one miscarriage.

    No matter how old you are, its always a good idea to talk to a doctor before you start trying to get pregnant. Doctors can help you prepare your body for a healthy baby. They can also answer questions on fertility and give tips on conceiving.

    There is no best method of birth control. Each method has its pros and cons. All women and men can have control over when, and if, they become parents. Making choices about birth control, or contraception, isnt easy. There are many things to think about. To get started, learn about birth control methods you or your partner can use to prevent pregnancy.

    You can also talk with your doctor about the choices. Before choosing a birth control method, think about: your overall health; how often you have sex; the number of sex partners you have; if you want to have children someday; how well each method works to prevent pregnancy; possible side effects; and your comfort level with using the method.

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    Keep in mind, even the most effective birth control methods can fail. But your chances of getting pregnant are lowest if the method you choose always is used correctly and every time you have sex. You can choose from many methods of birth control. Talk with your doctor if you have questions about any of the choices.

    Preventing Unintended Pregnancies Continuous Abstinence This means not having sex vaginal, anal, or oral at any time. It is the only sure way to prevent pregnancy and protect against sexually transmitted infections STIs , including HIV [human immunodeficiency virus]. A woman who has a regular menstrual cycle has about nine or more days each month when she is able to get pregnant. These fertile days are about five days before and three days after ovulation, as well as the day of ovulation. To have success with this method, you need to learn about your menstrual cycle.

    Then you can learn to predict which days you are fertile or unsafe. To learn about your cycle, keep a written record of: when you get your period; what it is like heavy or light blood flow ; and how you feel sore breasts, cramps. This method also involves checking your cervical mucus and recording your body temperature each day. Cervical mucus is the discharge from your vagina. You are most fertile when it is clear and slippery like raw egg whites. Use a basal thermometer to take your temperature and record it in a chart.

    Your temperature will rise 0. You can talk with your doctor or a natural family planning instructor to learn how to record and understand this information. Contraceptive Sponge This barrier method is a soft, disk-shaped device with a loop for taking it out. It is made out of polyurethane foam and contains the spermicide nonoxynol Spermicide kills sperm.

    Before having sex, you wet the sponge and place it, loop side down, inside your vagina to cover the cervix. The sponge is effective for more than one act of intercourse for up to 24 hours. It needs to be left in for at least 6 hours after having sex to prevent pregnancy. It must then be taken out within 30 hours after it is inserted. It is called the Today Sponge. Women who are sensitive to the spermicide nonoxynol-9 should not use the sponge. Diaphragm, Cervical Cap, and Cervical Shield These barrier methods block the sperm from entering the cervix the opening to your womb and reaching the egg.

    The diaphragm is a shallow latex cup. The cervical cap is a thimble-shaped latex cup. It often is called by its brand name, FemCap. The cervical shield is a silicone cup that has a one-way valve that creates suction and helps it fit against the cervix. It often is called by its brand name, Leas Shield. The diaphragm and cervical cap come in different sizes, and you need a doctor to fit you for one. The cervical shield comes in one size, and you will not need a fitting.

    Before having sex, add spermicide to block or kill sperm to the devices. Then place them inside your vagina to cover your cervix. You can buy spermicide gel or foam at a drug store. All three of these barrier methods must be left in place for 6 to 8 hours after having sex to prevent pregnancy. The diaphragm should be taken out within 24 hours. The cap and shield should be taken out within 48 hours. Female Condom This condom is worn by the woman inside her vagina. It keeps sperm from getting into her body. It is made of polyurethane and is packaged with a lubricant.

    It can be inserted up to 8 hours before having sex. Use a new condom each time you have intercourse. And dont use it and a male condom at the same time. Male Condom Male condoms are a thin sheath placed over an erect penis to keep sperm from entering a womans body. The natural kind do not protect against STIs. Condoms work best when used with a vaginal spermicide, which kills the sperm. And you need to use a new condom with each sex act.