Analysis of nine pregnancies with confined placental mosaicism for trisomy 2

Prenatal Diagnosis
L G ShafferD K Kalousek


Karyotypically normal fetuses with completely trisomic or mosaic placentae may be at increased risk for intrauterine growth restriction (IUGR). Molecular and cytogenetic analyses on nine pregnancies with confined placental mosaicism (CPM) for trisomy 2 were performed at two collaborating centres. Seven cases were identified through prenatal testing of chorionic villi (CVS). Two of these seven cases demonstrated complete trisomy 2 while the remaining five cases showed various levels of trisomy 2 (33 per cent-75 per cent cells). Two cases identified after IUGR was observed in newborn infants demonstrated 65 per cent and 100 per cent trisomy 2 in cultured villi from term placentae. In all nine cases, blood chromosome analysis (n = 4), chromosome analysis of amniotic fluid cultures (n = 4), and cultured amnion (n = 5) were normal, failing to demonstrate any trisomic cells in tissues of fetal origin. Molecular studies on the fetal or newborn tissues using dinucleotide repeat polymorphisms on chromosome 2 revealed normal biparental inheritance of chromosome 2 in all nine cases. The parental origin studies of the extra chromosome 2 in the placenta showed that three cases were maternal in origin, at least two of which were consistent w...Continue Reading


Feb 1, 1992·Journal of Bioenergetics and Biomembranes·V D De Pinto, F Palmieri
May 1, 1992·Prenatal Diagnosis·D H LedbetterK L Copeland
Mar 1, 1992·Human Genetics·D K KalousekA B Gärtner
Mar 23, 1991·Lancet·S MalcolmM E Pembrey
Mar 1, 1991·Journal of Medical Genetics·T J HassoldN Takaesu
Jan 1, 1990·Pediatric Pathology·D K Kalousek
Dec 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·D PinkelJ Gray
Jan 1, 1984·Annual Review of Genetics·T J Hassold, P A Jacobs
Jan 1, 1980·American Journal of Medical Genetics·E Engel
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Apr 1, 1993·Prenatal Diagnosis·N Morichon-DelvallezM Vekemans
Nov 1, 1995·Journal of Medical Genetics·S LangloisD K Kalousek

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Jan 2, 2013·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
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