title: [Prenatal diagnosis and characteristics of chromosome aberrations in families with genetic risk].
abstract: Characteristics of the chromosomal aberrations diagnosed in 959 prenatal tests in the II trimester of pregnancy is presented. Chromosomal aberrations were diagnosed in 33 tests (3.4%). Twenty one out of these aberrations (2.2%) were of labile character. Six aberrations resulted from the parental segregation, translocation or chromosomal inversion. In 12 cases fetus inherited stable aberration from one of parents. It amounted to 1.2% of all tested cases. Chromosomal aberrations were diagnosed in 2.7% cases tested due to the risk related to the mother's age. Half of them was trisomy of chromosome 21. Chromosomal aneuploidy in the progeny of families with a child with the same abnormality was diagnosed in 1.6% of cases. Chromosomal mosaicism was diagnosed in 2.2% of cases including 0.2% of cases with true mosaicism and 1.98% of cases with pseudomosaicism. Incidence and type of the diagnosed chromosomal aberrations coincided with foreseen aberrations for each group of the genetic risk.
authors.affiliation: Zakładu Genetyki Instytutu Matki i Dziecka.
authors.forename: E
authors.initials: E
authors.lastname: Bocian
authors.forename: T
authors.initials: T
authors.lastname: Mazurczak
authors.forename: K
authors.initials: K
authors.lastname: Sosnowska
authors.forename: K
authors.initials: K
authors.lastname: Jakubów
authors.forename: H
authors.initials: H
authors.lastname: Stańczak
authors.forename: U
authors.initials: U
authors.lastname: Teterwak
mesh_terms: D000328:Adult; D000649:Amniocentesis / Q000379:methods; D000653:Amniotic Fluid / Q000166:cytology*; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D025063:Chromosome Disorders; D005260:Female; D005817:Genetic Counseling / Q000379:methods; D006801:Humans; D008423:Maternal Age; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D018566:Pregnancy, High-Risk; D012307:Risk Factors
vernacular_title: Charakterystyka aberracji chromosomalnych rozpoznanych prenatalnie w rodzinach ryzyka genetycznego.