title: An evaluation of 75 terminations of pregnancy based on abnormal laboratory findings at first trimester CVS.
abstract: Seventy-five selective terminations, based on abnormal laboratory findings at first-trimester CVS, were performed in 1581 consecutive pregnancies. In all cases a (semi-) direct method of cytogenetic analysis was used. The 75 abortions were analysed in number of ways. Confirmatory studies showed that three cases had to be considered as false-positive findings, and in one other case the results were inconclusive. Based on literature data, it was estimated that 41 of the 75 pregnancies would have resulted in seriously handicapped children, surviving beyond the age of 1 year, if no termination of pregnancy had taken place. Negative side-effects of the procedure include: spontaneous abortion of chromosomally normal fetuses due to the CVS procedure itself and the need for a number of secondary amniocenteses (5.1%). The advantage of DNA diagnosis in X-linked diseases is illustrated by comparing the CVS results with a previously published amniocentesis study.
authors.affiliation: Department of Human Genetics, University of Amsterdam, The Netherlands.
authors.forename: N J
authors.initials: NJ
authors.lastname: Leschot
authors.forename: H H
authors.initials: HH
authors.lastname: Kanhai
authors.forename: C J
authors.initials: CJ
authors.lastname: van Asperen
authors.forename: H
authors.initials: H
authors.lastname: Wolf
authors.forename: K
authors.initials: K
authors.lastname: Boer
authors.forename: A C
authors.initials: AC
authors.lastname: van Prooijen-Knegt
authors.forename: G C
authors.initials: GC
authors.lastname: Christiaens
authors.forename: M
authors.initials: M
authors.lastname: Verjaal
authors.forename: E
authors.initials: E
authors.lastname: Briet
mesh_terms: D000025:Abortion, Eugenic; D000328:Adult; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D005820:Genetic Testing; D006467:Hemophilia A / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008017:Life Expectancy; D009136:Muscular Dystrophies / Q000235:genetics; D011247:Pregnancy; D012162:Retinal Degeneration / Q000235:genetics; D012307:Risk Factors; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D004247:DNA