title: [The role of ultrasonic and cytogenetic markers in prenatal diagnostics].
abstract: As a result of leadthrough 288 invasive manipulations with the use of cytogenetic and molecular-cytogenetic methods we have found 16 different disorders in the fetus karyotype of the expectant mothers of high risk groups. For the most part the Down syndrome and the Shereshevsky-Therner syndrome were detected among aneuploidies. The maximal amount of anomalous karyotypes (28.6%) was detected at the pregnants with congenital malformations in the fetus. The proofs of the increased frequencies of some chromosome homologue heteromorphisms were got in the group of patients where the so-called "soft markers" of aneuploidies or their combination with biochemical markers were used as supposition for the invasive procedure. The echographic screening proved to be the most informative method among the different approaches to the formation of the groups of the high genetic risk.
authors.forename: N I
authors.initials: NI
authors.lastname: Sopko
authors.forename: L V
authors.initials: LV
authors.lastname: Tavokina
authors.forename: V A
authors.initials: VA
authors.lastname: Buĭnova
authors.forename: A M
authors.initials: AM
authors.lastname: Bychkova
mesh_terms: D000649:Amniocentesis; D015415:Biomarkers / Q000032:analysis* / Q000097:blood*; D025063:Chromosome Disorders / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000196:embryology; D020732:Cytogenetic Analysis; D005260:Female; D005315:Fetal Diseases / Q000097:blood / Q000000981:diagnostic imaging / Q000235:genetics; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D016216:Ultrasonography, Prenatal
chemical_list: D015415:Biomarkers