title: Reevaluating confined placental mosaicism.
abstract: 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.
authors.affiliation: Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-2501, USA. gstetten@jhmi.edu
authors.forename: Gail
authors.initials: G
authors.lastname: Stetten
authors.forename: Cathleen S
authors.initials: CS
authors.lastname: Escallon
authors.forename: Sarah T
authors.initials: ST
authors.lastname: South
authors.forename: Joseph L
authors.initials: JL
authors.lastname: McMichael
authors.forename: Daniel O
authors.initials: DO
authors.lastname: Saul
authors.forename: Karin J
authors.initials: KJ
authors.lastname: Blakemore
mesh_terms: D015193:Chorionic Villi Sampling; D022202:Chromosomes, Artificial, Bacterial; D005817:Genetic Counseling; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009030:Mosaicism; D010920:Placenta / Q000648:ultrastructure*