Confined chorionic mosaicism in prenatal diagnosis

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 pregnanc...

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Bibliographic Details
Published in:Human genetics 1987-10, Vol.77 (2), p.163-167
Main Authors: KALOUSEK, D. K, DILL, F. J, PANTZAR, T, MCGILLIVRAY, B. C, SIU LI YONG, WILSON, R. D
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Chorionic Villi - ultrastructure
Female
Gynecology. Andrology. Obstetrics
Humans
Infant, Newborn
Management. Prenatal diagnosis
Medical sciences
Mosaicism
Pregnancy
Pregnancy. Fetus. Placenta
Prenatal Diagnosis
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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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00272385