PMID- 10332958 OWN - NLM STAT- MEDLINE DCOM- 19990824 LR - 20091119 IS - 0040-3709 (Print) IS - 0040-3709 (Linking) VI - 59 IP - 5 DP - 1999 May TI - Screening of human placentas for chromosomal mosaicism using comparative genomic hybridization. PG - 325-30 AB - Detection of confined placental mosaicism (CPM) in term placental tissues is usually accomplished by conventional cytogenetic analysis of cultured chorionic stroma and direct preparations from trophoblast or, more recently, by fluorescence in situ hybridization (FISH) on interphase nuclei. In this study, we describe the use of comparative genomic hybridization (CGH) for detection of chromosomal aneuploidy in term placentas and evaluate the sensitivity of this novel approach for CPM diagnosis in multiple placental samples acquired from five pregnancies prenatally diagnosed with CPM7 and CPM16. Each sample of placental villi was separated enzymatically into trophoblast and chorionic stroma, and the level of aneuploidy (three signals/nuclei) in each tissue was determined by FISH analysis, using centromeric DNA probes specific for chromosome 7 (D7Z1/Z2) or 16 (D16Z2). Aneuploidy levels ranged from 5.2-96.1% in the 11 tissues with CPM7 and 9.8-93% in the 29 tissues with CPM16. Subsequently, CGH analysis of DNA from the trophoblast and chorionic stroma of the same tissue sites detected the trisomic clone in all placental tissues with aneuploidy (16%, as determined by FISH analysis). Our results demonstrate the sensitivity of CGH analysis for detection of chromosomal aneuploidy mosaicism and support our contention that the CGH technique is the most effective cytogenetic method for screening term placentas for the presence of CPM. FAU - Lestou, V S AU - Lestou VS AD - Department of Pathology and Laboratory Medicine, University of British Columbia and British Columbia Research Institute for Children's and Women's Health, Vancouver, Canada. FAU - Lomax, B L AU - Lomax BL FAU - Barrett, I J AU - Barrett IJ FAU - Kalousek, D K AU - Kalousek DK LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Teratology JT - Teratology JID - 0153257 RN - 9007-49-2 (DNA) SB - IM MH - Chorionic Villi/chemistry MH - Chromosomes, Human, Pair 16 MH - Chromosomes, Human, Pair 7 MH - DNA/isolation & purification MH - Female MH - Genetic Testing/*methods MH - Humans MH - In Situ Hybridization, Fluorescence MH - Metaphase MH - Mosaicism/*diagnosis/genetics MH - Nucleic Acid Hybridization/*methods MH - Placenta/chemistry MH - Pregnancy MH - Prenatal Diagnosis MH - Sensitivity and Specificity MH - Trisomy/diagnosis EDAT- 1999/05/20 06:00 MHDA- 2000/06/20 09:00 CRDT- 1999/05/20 06:00 PHST- 1999/05/20 06:00 [pubmed] PHST- 2000/06/20 09:00 [medline] PHST- 1999/05/20 06:00 [entrez] AID - 10.1002/(SICI)1096-9926(199905)59:5<325::AID-TERA3>3.0.CO;2-N [pii] AID - 10.1002/(SICI)1096-9926(199905)59:5<325::AID-TERA3>3.0.CO;2-N [doi] PST - ppublish SO - Teratology. 1999 May;59(5):325-30. doi: 10.1002/(SICI)1096-9926(199905)59:5<325::AID-TERA3>3.0.CO;2-N.