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P04.03: Does the hCG ratio in pregnancies of unknown location (PULs) which subsequently become ectopic pregnancies predict the likely management of these ectopic pregnancies?

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked recessive disorder characterized by preand postnatal overgrowth, craniofacial dysmorphism, and a variety of visceral and skeletal anomalies. Other characteristics include coarse facial features, macrocephaly, and congenital heart defects. Prenatal diagnosis of SGBS is complex since only a few reported cases in male fetuses exist. We report ultrasound and autopsy findings of a female fetus with SGBS syndrome diagnosed by arrayCGH analysis of uncultured chorionic villus sample in 13th gestational week. A female fetus presented at 13 weeks of gestation with joint contractures, absence of fetal movement and polydactyli of the toes. Prenatal arrayCGH applying Agilent 180K oligo array on uncultured chorion villus sample showed a deletion of 91 kb at Xq26.2 involving the GPC3 gene. The deletion was subsequently detected in the father who showed classical features of SGBS. The fetal autopsy revealed a severely affected female fetus with multiple malformations consistent with SGBS including craniofacial dysmorphism, manifest hypoplasia of skeletal muscles and joint contractures together with a range of visceral anomalies. A 91 kb deletion at Xq26.2 involving the GPC3 gene was found in the affected female fetus and subsequently in the father, who had not previously been diagnosed with SGBS. To our knowledge this is the first case report of sonographically detected joint contractures, absent fetal movement, and polydactyli associated with SGBS diagnosed by prenatal arrayCGH in a female fetus. We suggest that the unexpectedly severe phenotype in this female fetus can be explained by mechanisms involving highly skewed X-inactivation or other epigenetic factors.