PRENATAL-DIAGNOSIS WITH REPETITIVE INSITU HYBRIDIZATION PROBES

被引:57
作者
LEBO, RV
FLANDERMEYER, RR
DIUKMAN, R
LYNCH, ED
LEPERCQ, JA
GOLBUS, MS
机构
[1] UNIV CALIF SAN FRANCISCO,DEPT OBSTET GYNECOL & REPROD SCI,U-262,SAN FRANCISCO,CA 94143
[2] UNIV CALIF SAN FRANCISCO,DEPT PEDIAT,SAN FRANCISCO,CA 94143
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 05期
关键词
PRENATAL DIAGNOSIS; INSITU HYBRIDIZATION; REPETITIVE DNA; CYTOGENETICS;
D O I
10.1002/ajmg.1320430519
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We have used chromosome-specific repetitive sequences to detect the most common human aneuploidies prenatally. Together chromosome 21,13,18, X, and Y aneuploidy comprises 95% of the chromosome abnormalities that result in a high risk of abnormal phenotypes at birth. The X, Y, and 18 repetitive probes work reliably in multiple tissue types including directly examined and cultured amniocytes, chorionic villus cells, lymphocytes, and cultured fibroblasts. The probe that detects both chromosomes 13 and 21 routinely gives results in each cell type tested except directly studied amniocytes which can be interpreted in seven-ninths of the cases with protocol 1 and all tested samples with protocol 2. Our protocols diagnosed trisomy 21 in a 23-week fetus with low maternal serum AFP and a trisomy 18 in a direct chorionic villus sample 2 working days after the samples were obtained. Trisomy 21 also has been ruled out in a CVS karyotype first thought to be 47,XY, + 21. These studies reflect the potential value of in situ hybridization to provide a more rapid, less expensive means to screen most at-risk fetal populations with less effort in first world cytogenetic laboratories, and to provide economical cytogenetic services in less developed countries.
引用
收藏
页码:848 / 854
页数:7
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