[Cytogenetic analysis of chorionic biopsy samples in prenatal diagnosis of chromosome abnormalities].
Using original direct methods of shaking-imprinting and rapid sampling of metaphase and prometaphase chromosomes, a cytogenetic analysis has been performed in 80 diagnostic chorionic villus samples (CVS) in the first trimester. Chromosomal disorders were identified in 6 (7.5%) fetuses: Down's syndrome in 4, monosomy 18 in 1, and a short-arm deletion of chromosome 18 in 1. These pregnancies were terminated. The paper offers opportunities for reducing risks of transcervical CVS and widely applying first-trimester chromosomal analysis in a program of mass screening for chromosomal and genetic diseases.
Baranov
V S
VS
Lebedev
V M
VM
Mikhaĭlova
E P
EP
Shved
N V
NV
Gavrilenko
T V
TV
D000328:Adult; D001707:Biopsy, Needle; D002823:Chorion / Q000473:pathology*; D002824:Chorionic Villi / Q000648:ultrastructure*; D015193:Chorionic Villi Sampling / Q000379:methods*; D002869:Chromosome Aberrations / Q000473:pathology*; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18 / Q000648:ultrastructure*; D002891:Chromosomes, Human, Pair 21 / Q000648:ultrastructure*; D004314:Down Syndrome / Q000473:pathology; D005260:Female; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First
Tsitogeneticheskiĭ analiz biotatov khoriona v prenatal'noĭ diagnostike khromosomnykh bolezneĭ.