title: Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies.
abstract: Discrepant chromosome findings in placenta and fetus (false negative and false positive) after chorionic villus sampling (CVS) are mainly due to confined mosaicism. Non-mosaic normal or abnormal chromosome counts after direct preparation and culture nearly always correctly reflect the fetal chromosome constitution. False-negative results have almost exclusively been restricted to cytotrophoblast cells not representing a fetal chromosome abnormality. Diagnosis of placental mosaicism definitely requires an adequate follow-up by amniocentesis, fetal blood sampling, or sonography before a pregnancy is terminated. When direct preparations and cultured cells are used for cytogenetic diagnoses and placental mosaicism is not taken as proof for a chromosomal abnormality in the fetus, CVS is an accurate diagnostic tool.
authors.affiliation: Institut für Humangenetik, University of Münster, Germany.
authors.forename: P
authors.initials: P
authors.lastname: Miny
authors.forename: P
authors.initials: P
authors.lastname: Hammer
authors.forename: B
authors.initials: B
authors.lastname: Gerlach
authors.forename: S
authors.initials: S
authors.lastname: Tercanli
authors.forename: J
authors.initials: J
authors.lastname: Horst
authors.forename: W
authors.initials: W
authors.lastname: Holzgreve
authors.forename: B
authors.initials: B
authors.lastname: Eiben
mesh_terms: D000649:Amniocentesis; D001706:Biopsy; D005188:False Negative Reactions; D005260:Female; D006801:Humans; D009030:Mosaicism / Q000235:genetics*; D010920:Placenta / Q000473:pathology*; D011237:Predictive Value of Tests; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis