title: Cytogenetic analysis of 570 first trimester chorionic villi samplings: technique and results.
abstract: In this report we present our experience based on 570 chorionic villi samplings performed by the transcervical method at 8 to 12 weeks gestation. Cytogenetic results were obtained for 551 samples, hence a failure rate of 3.33%. The previously described technique was modified by prolonging the incubation period to 48 hours. The total number of abnormalities was 26, which represents 4.71% of our sample. Of 24 chromosomal abnormalities, 21 were unbalanced and 3 were balanced of parental origin. Five discordant cases are thoroughly discussed.
authors.affiliation: Division autonome de génétique médicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Chuv, Switzerland.
authors.forename: M
authors.initials: M
authors.lastname: Jotterand-Bellomo
authors.forename: G
authors.initials: G
authors.lastname: Pescia
authors.forename: H
authors.initials: H
authors.lastname: Nguyen The
authors.forename: A C
authors.initials: AC
authors.lastname: Gaide
authors.forename: F
authors.initials: F
authors.lastname: Thonney
authors.forename: P
authors.initials: P
authors.lastname: Marguerat
authors.forename: F
authors.initials: F
authors.lastname: Pacaud
authors.forename: F
authors.initials: F
authors.lastname: Munier
mesh_terms: D002824:Chorionic Villi / Q000648:ultrastructure*; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D008722:Methods; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000175:diagnosis