Prenatal diagnosis of mosaic trisomy 8 in a fetus with normal nuchal translucency thickness and reversed end‐diastolic ductus venosus flow
- 1 April 2001
- journal article
- case report
- Published by Wiley in Ultrasound in Obstetrics & Gynecology
- Vol. 17 (4) , 341-343
- https://doi.org/10.1046/j.1469-0705.2001.00393.x
Abstract
We report a case of the prenatal diagnosis of trisomy 8 in a fetus presenting with normal nuchal translucency of 0.8 mm and reversed end‐diastolic ductus venosus blood flow at a routine first‐trimester scan at 11 weeks of gestation. No structural abnormalities were detected by the ultrasound scan. Karyotyping by chorionic villus sampling led to the diagnosis of mosaic trisomy 8, which was confirmed by fluorescent in‐situ hybridization on fetal tissue samples. Copyright © 2001 International Society of Ultrasound in Obstetrics and GynecologyKeywords
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