A 22-year-old, primigravid woman was referred for genetic counseling at 20 gestational weeks because of a fetal cystic nuchal mass. Prenatal ultrasound at 20 gestational weeks revealed a singleton fetus with a 3 ? 4 cm cystic mass on the left side of the head mimicking a fetal nuchal tumor (Fig. 1). The fetal biometry was consistent with 20 gestational weeks, and the amniotic fluid amount was normal. The fetal head was persistently hyperextended. A diagnosis of occipital encephalocele associated with iniencephaly was made. Amniocentesis revealed a karyotype of 46,XX. The parents opted to terminate the pregnancy. At 21 gestational weeks, a 354-g female fetus was delivered with iniencephaly ...

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