Outcome of pregnancies with trisomy 2 cells in chorionic villi

Prenatal Diagnosis
Stavros SifakisKypros H Nicolaides

Abstract

To describe the outcome of pregnancies with trisomy 2 in cultures of first-trimester chorionic villous samples (CVS) and determine whether amniocentesis is necessary in the management of such cases. Cultures of chorionic villi were performed at 11-13 weeks in 37 474 pregnancies. In those with trisomy 2 cells, amniocentesis was performed at 16 weeks. Pregnancy outcome was obtained from maternity records. Trisomy 2 cells in CVS cultures were observed in 45 of 37 474 pregnancies (1.2 per 1000). In 43 cases ultrasound examination at 16-20 weeks showed no fetal abnormalities, amniocentesis demonstrated the presence of only normal cells, and all 43 pregnancies ended in normal healthy live births. The birth weight was below the 5th centile in six neonates (13.9%). There was a significant association between the birth weight centile and the percentage of trisomic cells in the CVS culture (r = 0.409, p = 0.010). In one case, there was fetal death at 15 weeks. In a second case, amniocentesis showed one cell with trisomy 2 in a total of 53 cells, and ultrasound examination at 18 weeks showed severe fetal growth restriction and coarctation of the aorta. In at least 95% of cases with trisomy 2 in CVS cultures there is confined placental mos...Continue Reading

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Citations

Jan 1, 2014·Journal of Clinical Medicine·Francesca Romana Grati
Nov 29, 2011·Clinics in Laboratory Medicine·Colleen Jackson-Cook
Jan 2, 2013·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
Mar 19, 2011·American Journal of Medical Genetics. Part a·Paolo PronteraEmilio Donti
May 2, 2013·American Journal of Medical Genetics. Part a·Marisa SilvaHildeberto Correia
Jan 22, 2011·Birth Defects Research. Part A, Clinical and Molecular Teratology·Sonia Montes-NúñezMargarita Levario-Carrillo
Mar 29, 2014·Human Reproduction Update·Tyl H TaylorDarren K Griffin
Aug 29, 2020·Molecular Cytogenetics·Ting WangLi Guo
Apr 28, 2021·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Li ZhenDong-Zhi Li
May 14, 2021·Human Reproduction Update·Geerke M EggenhuizenRobert Jan Galjaard

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