Antenatal diagnosis of seckel syndrome.

Evaluation of the fetus in a 29-year-old primigravida showed severe intrauterine growth restriction with complex brain malformation with fetal dysmorphology. The family and past obstetric history is unremarkable, with nonconsanguineous marriage. Her previous scans included one at 12 weeks for nuchal translucency, and another an anomaly scan at 19 weeks, which both were unremarkable. In late second trimester, clinician had suspicion of growth restriction, and the sonographic examination demonstrated a complex brain malformation with severe intrauterine growth restriction (Table 1). Three-dimensional ultrasound (Fig. 1) showed facial dysmorphism—beaked nose with hypotelorism with mild proptosis with micrognathia. The concurrent occurrence of complex brain anomalies with ‘‘bird headed’’ facial features with severe growth restriction led to a probable diagnosis of Seckel syndrome. The couple was counseled regarding the progressive nature and poor prognosis of the syndrome. Eventually, the patient had premature rupture of membranes and had preterm labor; she delivered a preterm male baby who died within 12 h of delivery. Fetal chromosomal analysis was performed, and 25 metaphyses were studied. Mitomycin C stress test (50 ng/ml of mitomycin C for 48 h) was also performed to look for chromosomal breakage and radial formations, but the results were within normal limits. At birth, the baby weighed 886 g, length was 36 cm, and head’s circumference was 20 cm, which were below third centile for the gestational age. Postnatal examination (Fig. 2) and magnetic resonance imaging (MRI) examination (Fig. 3) of the baby corroborated antenatally identified facial features and brain abnormalities and confirmed the diagnosis of Seckel syndrome. Gupta A. (&), Consultant Department of Fetal Medicine & Clinical Geneticist, Max-Medcentre, N-110, Panchsheel Park, New Delhi 110017, India e-mail: [email protected]