title: Cytogenetic findings in 1250 chorionic villus samples obtained in the first trimester with clinical follow-up of the first 1000 pregnancies.
abstract: First-trimester chorionic villus sampling (CVS) was performed in a series of 1250 pregnancies. The direct method of karyotyping was successful in 1205 (96.4%). Abnormal laboratory findings resulted in 60 terminations of pregnancy (4.8%). In addition, six unexpected balanced chromosome rearrangements were detected. False-positive cytogenetic findings occurred in 2.3%, comprising 22 with mosaicism confined to the trophoblast, and a further six non-mosaic false-positive discrepancies were detected, four after termination of pregnancy. The outcome of the first 1000 pregnancies is known in all but one. There were no false-negative findings. Of 947 pregnancies meant to be continued, 34 (3.6%) ended in pregnancy loss before 28 weeks gestation. However, obstetricians with an experience of over 150 procedures had a pregnancy loss of 1.3%.
authors: University of Amsterdam, Academic Medical Centre, The Netherlands.
authors: N J
authors: NJ
authors: Leschot
authors: H
authors: H
authors: Wolf
authors: A C
authors: AC
authors: Van Prooijen-Knegt
authors: C J
authors: CJ
authors: van Asperen
authors: M
authors: M
authors: Verjaal
authors: G H
authors: GH
authors: Schuring-Blom
authors: K
authors: K
authors: Boer
authors: H H
authors: HH
authors: Kanhai
authors: G C
authors: GC
authors: Christiaens
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations / Q000175:diagnosis*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D005189:False Positive Reactions; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007621:Karyotyping; D008423:Maternal Age; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis*; D018566:Pregnancy, High-Risk