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

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
S CampbellJ S Carvalho

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.

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Citations

May 8, 2001·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·K Hecher
Mar 1, 2013·Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology·M J RodríguezM M Rodríguez
May 28, 2003·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·J M Martínez CrespoA Fortuny
Feb 25, 2015·Prenatal Diagnosis·Niels TørringUNKNOWN Danish Clinical Genetics Study Group
Mar 10, 2020·Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology·Merve Oncel AlanyaliSenol Coskun
Sep 21, 2011·American Journal of Medical Genetics. Part a·Daniela TurchettiMarco Seri
Dec 1, 2020·Prenatal Diagnosis·Simon Horsholt ThomsenIda Vogel

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