Postnatal placental confirmation of trisomy 2 and trisomy 16 detected at chorionic villus sampling: a possible association with intrauterine growth retardation and elevated maternal serum alpha-fetoprotein

Detection of trisomy 2 and trisomy 16 mosaicism through chorionic villus sampling (CVS) is not an infrequent finding. We describe here two cases, one of non-mosaic trisomy 2 and the other of high level mosaicism for trisomy 16. Amniocentesis in both cases demonstrated non-mosaic 46,XY karyotypes. Ea...

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Bibliographic Details
Published in:	Prenatal diagnosis Vol. 12; no. 3; p. 157
Main Authors:	Fryburg, J S, Dimaio, M S, Mahoney, M J
Format:	Journal Article
Language:	English
Published:	England 01-03-1992
Subjects:	Adult alpha-Fetoproteins - analysis Amniocentesis Chorionic Villi Sampling Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 2 Female Fetal Growth Retardation - complications Follow-Up Studies Humans Mosaicism Pregnancy - blood Pregnancy Outcome Pregnancy Trimester, First Trisomy
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Summary:	Detection of trisomy 2 and trisomy 16 mosaicism through chorionic villus sampling (CVS) is not an infrequent finding. We describe here two cases, one of non-mosaic trisomy 2 and the other of high level mosaicism for trisomy 16. Amniocentesis in both cases demonstrated non-mosaic 46,XY karyotypes. Each pregnancy continued to delivery of liveborn, normal-appearing boys; both pregnancies were complicated by severe intrauterine growth retardation (IUGR). Postnatal studies of placental biopsies in both cases confirmed the original CVS findings, whereas cord blood karyotypes were normal in both boys. Both children have demonstrated adequate catch-up growth.
ISSN:	0197-3851
DOI:	10.1002/pd.1970120303