title: [Detection of chromosomal abnormalities using cordocentesis].
abstract: Four cases of cytogenetic prenatal diagnosis of fetuses with chromosomal aberrations are presented: (1) the Patau syndrome; (2) and (4) the Down syndrome; (3) the Klinefelter syndrome. Cordocentesis has been shown to be expedient for rapid and accurate determination of fetus karyotype. Indicative for cytogenetic examination were ultrasonic data, maternal age, the values of AFP, HGG and nonconjugated estreol in maternal serum. Comparison of ultrasonic examination of fetuses with the data on abortus autotopsia was undertaken. The results demonstrate importance of ultrasonic, cytogenetic, biochemical and morphological research in prenatal malformation diagnosis.
authors.forename: T V
authors.initials: TV
authors.lastname: Zolotukhina
authors.forename: M I
authors.initials: MI
authors.lastname: Kuznetsov
authors.forename: E V
authors.initials: EV
authors.lastname: Kostiuk
authors.forename: N V
authors.initials: NV
authors.lastname: Shilova
authors.forename: V G
authors.initials: VG
authors.lastname: Solonichenko
mesh_terms: D000328:Adult; D006063:Chorionic Gonadotropin / Q000097:blood; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D004314:Down Syndrome / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D004964:Estriol / Q000097:blood; D005260:Female; D005312:Fetal Blood / Q000737:chemistry*; D005315:Fetal Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*; D014314:Trisomy; D014463:Ultrasonography; D000509:alpha-Fetoproteins / Q000378:metabolism
chemical_list: D006063:Chorionic Gonadotropin; D000509:alpha-Fetoproteins; D004964:Estriol
vernacular_title: Vyiavlenie khromosomnoĭ patologii u plodov pri ispol'zovanii kordotsenteza.