Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.
J Inherit Metab Dis
; 38(5): 839-46, 2015 Sep.
Article
em En
| MEDLINE
| ID: mdl-25567501
ABSTRACT
INTRODUCTION:
Women with inherited metabolic disorders, including those with previously life-limiting conditions such as MMA, are reaching child-bearing age more often due to advances in early diagnosis and improved pediatric care. Information surrounding maternal and fetal complications associated with the underlying disorders remains largely unexplored.METHODS:
Pregnancies affected by maternal MMA were ascertained through study 04-HG-0127 "Clinical and Basic Investigations of Methylmalonic Acidemia and Related Disorders" (clinicaltrials.gov identifier NCT00078078) and via literature review. Prenatal and delivery records in study participants were reviewed.RESULTS:
Seventeen pregnancies were identified in women with isolated MMA, including three abortions, one termination, and 13 completed pregnancies [three cases with cblA (four pregnancies), four cases of mut- (one cobalamin responsive, three non-responsive), five cases with unknown type of MMA]. Seventeen percent (3/17) of the pregnancies resulted in a first trimester abortion, while 38.5% (5/13) of the completed pregnancies resulted in preterm deliveries. A cesarean delivery rate of 53.8% (7/13) was noted among the cohort. Fetal distress or nonreassuring fetal status was the indication for 57% (4/7) cesarean deliveries. One patient was reported to have metabolic crisis as well as episodes of mild hyperammonemia. Malformations or adverse outcomes in the progeny were not observed.CONCLUSION:
Although there have been a small number of pregnancies identified in women with MMA, the cumulative results suggest that the majority of pregnancies can be complicated by cesarean delivery and increased risk of prematurity. A pregnancy registry could clarify perinatal complications and define management approaches needed to ensure optimal maternal and fetal outcomes in this growing patient population.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Complicações na Gravidez
/
Erros Inatos do Metabolismo dos Aminoácidos
Tipo de estudo:
Observational_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Adolescent
/
Adult
/
Female
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Humans
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Newborn
/
Pregnancy
Idioma:
En
Revista:
J Inherit Metab Dis
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Estados Unidos