title: [Prenatal diagnosis with chorionic villi and placenta puncture biopsy in the 1st to 3d trimester of pregnancy: diagnostic value of chromosome studies].
abstract: Chorionic villus sampling and placental biopsies became established diagnostic alternatives to amniocentesis worldwide during the 80's. Safety and accuracy are the most important criteria for the evaluation of these newer techniques as compared to amniocentesis. We report on our experience with more than 3400 chromosome analyses between 1985 and 1990 from first to third trimester of pregnancy in a single centre. Most obvious is the higher frequency of mosaicism, which is often, but not always confined to the placenta. Mosaicism accounts for the overwhelming majority of all discrepant (so-called false negative or false positive) cytogenetic findings. The most important prerequisites for diagnostic accuracy of chromosome analyses are meticulous separation of villi immediately after the sampling procedure as well as simultaneous use of direct preparation and cell culture. If mosaicism is not taken as sound evidence for foetal aneuploidy, the accuracy of cytogenetic diagnoses after chorionic villus sampling and placental biopsies is in the same range as the one after amniocentesis.
authors.affiliation: Institut für Humangenetik der Westfälischen Wilhelms-Universität zu Münster.
authors.forename: P
authors.initials: P
authors.lastname: Miny
authors.forename: P
authors.initials: P
authors.lastname: Hammer
authors.forename: R
authors.initials: R
authors.lastname: Schloo
authors.forename: J
authors.initials: J
authors.lastname: Horst
authors.forename: S
authors.initials: S
authors.lastname: Tercanli
authors.forename: B
authors.initials: B
authors.lastname: Gerlach
authors.forename: W
authors.initials: W
authors.lastname: Holzgreve
mesh_terms: D000328:Adult; D000782:Aneuploidy; D001707:Biopsy, Needle; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008423:Maternal Age; D009030:Mosaicism / Q000235:genetics; D010920:Placenta / Q000473:pathology*; D011247:Pregnancy; D011296:Prenatal Diagnosis
vernacular_title: Pränatale Diagnostik an Chorionzotten und Plazentapunktaten vom ersten bis zum dritten Schwangerschaftstrimenon: Diagnostische Zuverlässigkeit von Chromosomenuntersuchungen.