Prenatal diagnosis of mosaic trisomy 8 in a fetus with normal nuchal translucency thickness and reversed end-diastolic ductus venosus flow

被引：16

作者：

Campbell, S

Mavrides, E

Prefumo, F

Presti, F

Carvalho, JS

机构：

[1] Univ London St Georges Hosp, Sch Med, Dept Obstet & Gynaecol, Fetal Med Unit, London SW17 0QT, England

[2] Royal Brompton Hosp, Brompton Fetal Cardiol, London SW3 6LY, England

来源：

ULTRASOUND IN OBSTETRICS & GYNECOLOGY | 2001年 / 17卷 / 04期

关键词：

trisomy; 8; prenatal diagnosis; ductus venosus; nuchal translucency;

D O I：

10.1046/j.1469-0705.2001.00393.x

中图分类号：

O42 [声学];

学科分类号：

070206 ; 082403 ;

摘要：

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.

引用

页码：341 / 343

页数：3

共 25 条

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ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 1997, 10 (06) : 397 - 399
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ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2003, 21 (05) : 490 - 493
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Tang, Ying
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MOLECULAR MEDICINE REPORTS, 2019, 19 (02) : 1349 - 1355
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EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY, 2008, 141 (02) : 100 - 103
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