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), 314-316. (doi:10.1002/pd.54).


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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.

Item Type: Article
Digital Object Identifier (DOI): doi:10.1002/pd.54
Additional Information: Short Communication
ISSNs: 0197-3851 (print)
Related URLs:
Keywords: congenital adrenal hyperplasia, nuchal translucency, first trimester ultrasound and prenatal diagnosis
Subjects: R Medicine > RG Gynecology and obstetrics
Divisions : University Structure - Pre August 2011 > School of Medicine > Developmental Origins of Health and Disease
ePrint ID: 25798
Accepted Date and Publication Date:
Date Deposited: 19 Apr 2006
Last Modified: 31 Mar 2016 11:48

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