Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasia.
We present two cases of pregnant women with a previous history of congenital adrenal hyperplasia. In both cases the only abnormal feature in the initial pregnancy had been increased nuchal translucency at 10-14 weeks of gestation. The fetal karyotype was normal and a diagnosis of congenital adrenal hyperplasia was made after delivery. In their current pregnancies, both fetuses also had increased nuchal translucency and normal fetal karyotype. Diagnosis of 21-hydroxylase deficiency was made prenatally by DNA analysis. These findings in four affected fetuses suggest that congenital adrenal hyperplasia should be added to the list of genetic anomalies associated with an increase in nuchal translucency.
Masturzo
B
B
Academic Department of Obstetrics and Gynaecology, University College London Hospitals, London, UK.
Hyett
J A
JA
Kalache
K D
KD
Rumsby
G
G
Jauniaux
E
E
Rodeck
C H
CH
D000312:Adrenal Hyperplasia, Congenital / Q000000981:diagnostic imaging*; D000328:Adult; D003907:Dexamethasone / Q000627:therapeutic use; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000188:drug therapy; D005865:Gestational Age; D005938:Glucocorticoids / Q000627:therapeutic use; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D009333:Neck / Q000000981:diagnostic imaging* / Q000196:embryology; D011247:Pregnancy; D013255:Steroid 21-Hydroxylase / Q000235:genetics; D016216:Ultrasonography, Prenatal
D005938:Glucocorticoids; D003907:Dexamethasone; D013255:Steroid 21-Hydroxylase