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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
Author(s) -
Fryburg J. S.,
Dimaio M. S.,
Mahoney M. J.
Publication year - 1992
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970120303
Subject(s) - trisomy , chorionic villus sampling , chorionic villi , aneuploidy , growth retardation , alpha fetoprotein , andrology , down syndrome , prenatal diagnosis , medicine , biology , pregnancy , obstetrics , fetus , genetics , chromosome , gene , hepatocellular carcinoma
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 trisorny 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.