Prenatal diagnosis in three cases of iniencephaly with unusual postmortem findings.
Iniencephaly is a rare and lethal congenital malformation of the neural tube characterized by occipital bone defect, cervical dysraphism, fixed retroflexion of the fetal head and severe lordosis of the cervicothoracic spine. The etiology is unknown. Prenatally diagnosed cases of iniencephaly are rare because careful and early ultrasonographic evaluation is necessary. We present three cases of iniencephaly prenatally diagnosed by sonography at 20-22 weeks' gestation in which therapeutic abortion was induced. The sonographic findings were compatible with the postmortem findings. The present cases of iniencephaly were found to carry unusual associated malformations such as two lobes in the right lung and chorangiosis of the placenta. Only hypoplastic lungs have been reported by previous authors. We also studied the 677C-->T mutation on the methylenetetrahydrofolate reductase gene in the parents in one of the present cases. The mother was found to be heterozygous for the 677CT polymorphism.
Balci
S
S
Department of Clinical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Aypar
E
E
Altinok
G
G
Boduroğlu
K
K
Beksaç
M S
MS
D000028:Abortion, Induced; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009436:Neural Tube Defects / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal
D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)