Reevaluating confined placental mosaicism

• Published in: American journal of medical genetics. Part A Vol. 131A; no. 3; pp. 232 - 239
• Main Authors: Stetten, Gail, Escallon, Cathleen S., South, Sarah T., McMichael, Joseph L., Saul, Daniel O., Blakemore, Karin J.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 15.12.2004
• Subjects: Chorionic Villi Sampling; chorionic villus sampling; chromosomal mosaicism; Chromosomes, Artificial, Bacterial; confined placental mosaicism; cytogenetic abnormality; Genetic Counseling; Humans; In Situ Hybridization, Fluorescence; Karyotyping; mosaic aneuploidy; Mosaicism; Placenta - ultrastructure; prenatal genetic counseling
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.30363

Chromosomal mosaicism was found in 38 of 4,000 chorionic villus samples examined from 1998 to 2003. A small fraction of these (5/38) were confirmed as true mosaics by analysis of amniotic fluid. Twenty‐nine cases that fit the definition of confined placental mosaicism were followed with clinical and cytogenetic analysis throughout the pregnancy, at birth and in a few cases into infancy. This was done to determine the prognostic interpretation of prenatal cytogenetic results from multiple specimens in a single pregnancy and thus allow for reevaluation of the genetic counseling. In 2 of these 29 cases, low‐level mosaicism was found in the neonate, and in 1 of these the chromosome abnormality is probably the cause of the resulting minor phenotypic abnormalities. Families face unique difficulties when confined placental mosaicism is the prenatal diagnosis, and it is extremely important that the counseling they receive takes into consideration the unlikely possibility of the placental abnormality appearing in fetal tissues. © 2004 Wiley‐Liss, Inc.