Confined chorionic mosaicism in prenatal diagnosis |
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| Authors: | Dagmar K Kalousek Fred J Dill Tapio Pantzar Barbara C McGillivray Siu Li Yong R Douglas Wilson |
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| Institution: | (1) Department of Pathology, University of British Columbia, Vancouver, B.C., Canada;(2) Department of Medical Genetics, University of British Columbia, Vancouver, B.C., Canada;(3) Department of Obstetrics and Gynecology, University of British Columbia, Vancouver, B.C., Canada;(4) Present address: Cytogenetics and Embryofetopathology, B.C. Children's Hospital, 4480 Oak Street, V6H 3V4 Vancouver, B.C., Canada |
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| Abstract: | Summary Confined chorionic mosaicism, detected commonly on chorionic villus sampling (CVS) and occasionally in cultured amniotic fluid cells, is described in five pregnancies that showed confined chorionic mosaicism for trisomies 12, 13, 14, 17 and a marker chromosome. Cytogenetic findings in these pregnancies support the conclusion that within chorion some chromosomal mosaicism are confined to the trophectoderm derivatives while others to the extra-embryonic mesoderm. The etiology of confined chorionic mosaicism is discussed in relation to a significant role of multiple cell lineages contributing to the early development of placenta. The need is indicated for the use of both direct and long-term cultures in CVS prenatal diagnosis, and for the confirmatory testing of fetal blood or amniotic fluid in cases where mosaicism is detected in chorionic villi. |
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