In this trial comparing prenatal repair of myelomeningocele with standard postnatal repair, the prenatal-surgery group had better outcomes and better mental and motor function at the age of 30 months. However, these benefits came with some increased risks.

In this nationwide cohort study conducted in Denmark, there was no significant increase in the risk of birth defects associated with exposure to proton-pump inhibitors in the first trimester of pregnancy.

This large case–control study used a European database to assess associations between first-trimester valproic acid monotherapy and 14 malformations reported previously to be linked to valproic acid use in early pregnancy. Valproic acid monotherapy was associated with significantly increased risks for 6 of the 14 malformations, including spina bifida, atrial septal defect, cleft palate, hypospadias, polydactyly, and craniosynostosis, as compared with no antiepileptic-drug use or use of other antiepileptic drugs.

In this part of a randomized, 2-by-2 factorial trial involving extremely preterm infants, use of intubation and surfactant treatment (within 1 hour after birth) was compared with initiation of continuous positive airway pressure (CPAP) in the delivery room and subsequent use of a protocol-driven limited ventilation strategy. The rate of death or bronchopulmonary dysplasia (the primary outcome) did not differ significantly between the groups; the CPAP group required intubation less frequently and for fewer days than did the surfactant group. These results support consideration of CPAP as an alternative to intubation and surfactant in preterm infants.

Hypoplastic left heart syndrome is a complex congenital heart lesion that requires a three-stage procedure for surgical palliation. This clinical trial examines two approaches to the first stage of the procedure, and the results provide important guidance for the most appropriate surgical management of this serious lesion.

This large randomized trial with a 2-by-2 factorial design compared a lower target range of oxygen saturation (85 to 89%) with a higher target range (91 to 95%) in extremely preterm infants. The lower target range did not significantly decrease the combined outcome of severe retinopathy or death, but it resulted in an increase in mortality and a substantial decrease in severe retinopathy among survivors.

This study shows an association between a broad range of phenotypes and either deletion or duplication of a genomic segment at chromosome 1q21.1, suggesting a fundamental role of the deletion or duplication in early development and challenging the notion that a specific mutation disposes toward a specific disorder or syndrome.

Sparse outcome data exist for genetic males who are assigned female sex at birth to overcome severe phallic inadequacy occurring in cloacal exstrophy, a rare, complex pelvic defect. This article reports the subsequent sexual identity of 16 genetic males, 14 of whom were assigned to female sex soon after birth. Eight of 14 subjects assigned to female sex declared themselves male over time; the 2 raised as males remained so.

Intracytoplasmic sperm injection and in vitro fertilization are being used increasingly to treat infertility. It is not known whether infants conceived with these types of technology have a higher risk of birth defects than infants conceived naturally. This study found that infants conceived with intracytoplasmic sperm injection or in vitro fertilization had a risk of a major birth defect diagnosed by one year of age that was twice as high as that in naturally conceived infants. These increased risks persisted after adjustment for potentially confounding factors and did not appear to be attributable to increased surveillance for birth defects among these infants.