title: Discordant direct and culture results following chorionic villus sampling and the diagnosis of a third cell line in the fetus.
abstract: We report a case of discordant non-mosaic karyotypes following chorionic villus sampling (CVS). A 45,XX,der(21;21)(q10;q10) karyotype was found on direct preparation of cytotrophoblasts and 46,XX was found on long-term culture of mesenchymal core cells. Analysis of amniotic fluid cells and fetal tissue revealed a third karyotype: 46,XX,+21,der(21;21)(q10;q10). Had only culture analysis been performed, follow-up studies might not have been undertaken. This case demonstrates the importance of direct CVS preparation in helping to identify fetal abnormalities, and the need for follow-up of discordant CVS results.
authors.affiliation: Department of Obstetrics and Gynecology, University of Tennessee, Memphis, USA.
authors.forename: O P
authors.initials: OP
authors.lastname: Phillips
authors.forename: G V
authors.initials: GV
authors.lastname: Velagaleti
authors.forename: A T
authors.initials: AT
authors.lastname: Tharapel
authors.forename: L P
authors.initials: LP
authors.lastname: Shulman
mesh_terms: D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D015193:Chorionic Villi Sampling; D002890:Chromosomes, Human, Pair 20; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007621:Karyotyping; D008648:Mesoderm / Q000166:cytology; D009030:Mosaicism; D011247:Pregnancy; D014178:Translocation, Genetic; D014314:Trisomy; D014327:Trophoblasts / Q000737:chemistry