Prenatal Diagnosis of Primrose Syndrome.

Primrose syndrome is a very rare congenital malformation. Symptoms of this disorder may appear during childhood, but the diagnosis is identified in adulthood in the majority of cases. The prenatal diagnosis of Primrose syndrome is not developed in the literature. We present herein a case series of 3 cases with characteristic sonographic features. A dysmorphic metopic suture, downslanting palpebral fissures, a wide forehead, and agenesis of corpus callosum are the main signs. A missense mutation in ZBTB20 identified in whole exome sequencing can confirm the prenatal diagnosis of Primrose syndrome.

Timing of delivery following selective laser photocoagulation for twin-to-twin transfusion syndrome.

OBJECTIVE: We sought to compare intrauterine risks with postnatal outcome in monochorionic pregnancies operated by fetoscopic laser surgery for twin-to-twin transfusion syndrome. STUDY DESIGN: A cohort of 602 consecutive cases was analyzed. Unexpected prenatal adverse events were identified when a fatal or potentially fatal event occurred that could have been avoided by timely delivery. RESULTS: The prospective risk of an unexpected adverse event dropped from 16.8% (95% confidence interval [CI], 13.6-20.5%) to 0% (95% CI, 0-11%) between 26-36 weeks. At 32 weeks, the residual risk was 1 in 17 (95% CI, 1/28-1/11). The perinatal rate of death or severe brain lesions dropped from 35% (25-47%) in infants delivered at 26-28 weeks down to 3% (1-6%) at 34-36 weeks. CONCLUSION: Our results did not identify an optimal cut-off for elective preterm delivery in laser-operated twin-to-twin transfusion syndrome. Perinatal morbidity appears low from ≥32 weeks and the decision for elective delivery should be based upon medical history, parental demand, and expert assessment.