Maternal genetic diseases: potential concerns for mother and baby

Stone, Julie M.; Reed, Dallas

doi:10.1007/s00439-019-02086-6

Cited by 4 publications

(3 citation statements)

References 41 publications

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“…Experience with the management of women with rare monogenic diseases during pregnancy, delivery, and the postpartum period is scarce. 1 The lack of knowledge and evidence-based recommendations about this topic, however, put women and/or their offspring at a substantial health risk. This is demonstrated by potentially lifethreatening hyperammonemic encephalopathy in untreated women with ornithine transcarbamylase deficiency 2 and the manifestation of maternal phenylketonuria syndrome in the offspring of inadequately treated women with phenylketonuria.…”

Section: Introductionmentioning

confidence: 99%

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Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS

et al. 2023

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Biallelic pathogenic variants in the neuroblastoma amplified sequence (NBAS) gene affecting the Sec39 domain are associated with a predominant hepatic phenotype named infantile liver failure syndrome type 2 (ILFS2). Individuals are at risk of developing life‐threatening acute liver failure episodes, most likely triggered by febrile infections. Pregnancy, delivery, and the postpartum period are well known triggers of decompensation in different inherited metabolic diseases and therefore entail a potential risk also for individuals with ILFS2. We studied pregnancy, birth, and postpartum period in a woman with ILFS2 (homozygous for the NBAS variant c.2708 T > G, p.(Leu903Arg)). During two pregnancies there were no complications associated with the underlying genetic condition. Two healthy boys were born by cesarean section. To reduce the risk of fever and febrile infections, we avoided prolonged labor, epidural analgesia, and breastfeeding. Maternal body temperature and liver function were closely monitored. In case of elevated body temperature, antipyretic treatment (acetaminophen, metamizole) was given without delay. Alanine and aspartate aminotransferases as well as liver function remained normal throughout the observation period. Hence, pregnancy and childbirth are feasible in women with ILFS2 under careful monitoring.

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Section: Introductionmentioning

confidence: 99%

“…Experience with the management of women with rare monogenic diseases during pregnancy, delivery, and the postpartum period is scarce 1 . The lack of knowledge and evidence‐based recommendations about this topic, however, put women and/or their offspring at a substantial health risk.…”

Section: Introductionmentioning

confidence: 99%

Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS

et al. 2023

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“…As diagnostics improve, women with genetic diseases are increasingly becoming pregnant requiring specialized management by high-risk obstetricians and clinical geneticists (Stone and Reed 2019). In particular, pregnancies in women with inborn errors of metabolism, connective tissue disorders, and skeletal dysplasias are increasingly common and require a multidisciplinary team approach.…”

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confidence: 99%