Prenatal diagnosis in three cases of iniencephaly with unusual postmortem findings

Iniencephaly is a rare and lethal congenital malformation of the neural tub e characterized by occipital bone defect, cervical dysraphism, fixed retrof lexion of the fetal head and severe lordosis of the cervicothoracic spine. The etiology is unknown. Prenatally diagnosed cases of iniencephaly are rar e because careful and early ultrasonographic evaluation is necessary. We pr esent three cases of iniencephaly prenatally diagnosed by sonography at 20- 22 weeks' gestation in which therapeutic abortion was induced. The sonograp hic findings were compatible with the postmortem findings. The present case s of iniencephaly were found to carry unusual associated malformations such as two lobes in the right lung and chorangiosis of the placenta. Only hypo plastic lungs have been reported by previous authors. We also studied the 6 77C -->T mutation on the methylenetetrahydrofolate reductase gene in the pa rents in one of the present cases. The mother was found to be heterozygous for the 677CT polymorphism. Copyright (C) 2001 John Wiley & Sons, Ltd.