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Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasia.

Masturzo, B; Hyett, JA; Kalache, KD; Rumsby, G; Jauniaux, E; Rodeck, CH; (2001) Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasia. Prenat Diagn , 21 (4) pp. 314-316. 10.1002/pd.54.

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Abstract

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.

Type: Article
Title: Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasia.
Location: England
DOI: 10.1002/pd.54
Keywords: Adrenal Hyperplasia, Congenital, Adult, Dexamethasone, Female, Fetal Diseases, Gestational Age, Glucocorticoids, Homozygote, Humans, Male, Mutation, Neck, Pregnancy, Steroid 21-Hydroxylase, Ultrasonography, Prenatal
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Inst for Women's Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Inst for Women's Health > Maternal and Fetal Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Inst for Women's Health > Reproductive Health
URI: http://discovery.ucl.ac.uk/id/eprint/26960
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