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Prenatal diagnosis of mosaic trisomy 8 in a fetus with normal nuchal translucency thickness and reversed end‐diastolic ductus venosus flow
Author(s) -
Campbell S.,
Mavrides E.,
Prefumo F.,
Presti F.,
Carvalho J. S.
Publication year - 2001
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2001.00393.x
Subject(s) - ductus venosus , medicine , trisomy , fetus , prenatal diagnosis , obstetrics , nuchal translucency , blood flow , aneuploidy , cardiology , pregnancy , genetics , chromosome , gene , biology
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 Gynecology