A newborn male infant is evaluated in the neonatal intensive care unit for growth restriction. The infant was born to a 29-year-old woman, gravida 3 para 0 aborta 2, who did not receive prenatal care. The mother presented in labor at approximately 38 weeks gestation and had a forceps-assisted vaginal delivery due to fetal heart rate abnormalities. Apgars were 6 and 8 at 1 and 5 minutes, respectively. Weight is 2.5 kg (5.5 lb). Physical examination shows microcephaly, a wide anterior fontanelle, cleft palate, and hypoplasia of the distal phalanges. Further evaluation of the mother would most likely reveal a history of which of the following?

Question

A newborn male infant is evaluated in the neonatal intensive care unit for growth restriction.  The infant was born to a 29-year-old woman, gravida 3 para 0 aborta 2, who did not receive prenatal care.  The mother presented in labor at approximately 38 weeks gestation and had a forceps-assisted vaginal delivery due to fetal heart rate abnormalities.  Apgars were 6 and 8 at 1 and 5 minutes, respectively.  Weight is 2.5 kg (5.5 lb).  Physical examination shows microcephaly, a wide anterior fontanelle, cleft palate, and hypoplasia of the distal phalanges.  Further evaluation of the mother would most likely reveal a history of which of the following?

Quizplus · Accepted Answer

11ec25c8_da89_983c_bc81_adc1c4fb7e9e_MD0003_00 This infant mostly likely has fetal hydantoin syndrome, which occurs due to in utero exposure to an antiepileptic (eg, phenytoin, carbamazepine, valproate). Multiple antiepileptics have teratogenic effects due to their ability to cross the placenta, resulting in low folate levels and high oxidative metabolites levels in the fetus. The likely combined effects result in the associated cleft lip and palate, wide anterior fontanelle, distal phalange hypoplasia, and cardiac anomalies (eg, pulmonary stenosis, aortic stenosis). The associated neural tube defects and microcephaly can also result in developmental delay and poor cognitive outcomes. Therefore, to minimize the risk of congenital malformation, patients who require antiepileptics during pregnancy should be titrated to the lowest dose for seizure control prior to conception and started on high-dose (4 mg) folic acid supplementation. (Choice A) Fetal alcohol syndrome can present with microcephaly and midfacial hypoplasia; however, there is no association with cleft lip or palate. Fetal alcohol syndrome (Choice B) Cocaine use during pregnancy is associated with preterm delivery, abruptio placentae, and fetal growth restriction. There is no association with congenital defects. (Choice C) Use of lisinopril (and other angiotensin-converting enzyme inhibitors) during pregnancy can cause fetal renal failure and associated oligohydramnios that results in pulmonary hypoplasia, growth restriction, and limb defects. It does not cause cleft lip or palate. (Choice E) Most infants with congenital syphilis are asymptomatic at birth; those with symptoms typically have rhinitis ("snuffles"), hepatomegaly, and a maculopapular rash (none of which are seen in this patient). Educational objective: Fetal hydantoin syndrome results from in utero exposure to an antiepileptic (eg, phenytoin, carbamazepine) and presents with microcephaly, a wide anterior fontanelle, cleft lip and palate, and distal phalange hypoplasia. References: Fetal hydantoin syndrome: a case report. (http://www.ncbi.nlm.nih.gov/pubmed/26838156) Comparative safety of anti-epileptic drugs during pregnancy: a systematic review and network meta-analysis of congenital malformations and prenatal outcomes. (http://www.ncbi.nlm.nih.gov/pubmed/28472982) Fetal hydantoin syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/28578158)

A Newborn Male Infant Is Evaluated in the Neonatal Intensive