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Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasia

Masturzo, B., Hyett, J.A., Kalache, K.D., Rumsby, G., Jauniaux, E. and Rodeck, C.H. (2001) Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasia Prenatal Diagnosis, 21, (4), pp. 314-316. (doi:10.1002/pd.54).

Record type: Article


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.

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Published date: 2001
Additional Information: Short Communication
Keywords: congenital adrenal hyperplasia, nuchal translucency, first trimester ultrasound and prenatal diagnosis


Local EPrints ID: 25798
ISSN: 0197-3851
PURE UUID: 7cc7b2d4-5f7d-4986-88a2-807e4997963a

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Date deposited: 19 Apr 2006
Last modified: 17 Jul 2017 16:09

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Author: B. Masturzo
Author: J.A. Hyett
Author: K.D. Kalache
Author: G. Rumsby
Author: E. Jauniaux
Author: C.H. Rodeck

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