期刊
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
卷 17, 期 4, 页码 341-343出版社
BLACKWELL SCIENCE LTD
DOI: 10.1046/j.1469-0705.2001.00393.x
关键词
trisomy 8; prenatal diagnosis; ductus venosus; nuchal translucency
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.
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