RAPID PRENATAL-DIAGNOSIS BY FLUORESCENT INSITU HYBRIDIZATION OF CHORIONIC VILLI - AN ADJUNCT TO LONG-TERM CULTURE AND KARYOTYPE

被引：30

作者：

EVANS, MI ^{[1
]}

KLINGER, KW ^{[1
]}

ISADA, NB ^{[1
]}

SHOOK, D ^{[1
]}

HOLZGREVE, W ^{[1
]}

MCGUIRE, N ^{[1
]}

JOHNSON, MP ^{[1
]}

机构：

[1] UNIV MUNSTER,W-4400 MUNSTER,GERMANY

来源：

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY | 1992年 / 167卷 / 06期

关键词：

PRENATAL DIAGNOSIS; CHORIONIC VILLUS SAMPLING; FLUORESCENCE INSITU HYBRIDIZATION; MOLECULAR DIAGNOSIS; CHROMOSOME ABNORMALITIES;

D O I：

10.1016/0002-9378(92)91731-O

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

OBJECTIVE: This series was designed to assess in a pilot study the feasibility of using fluorescence in situ hybridization on chorionic villi. STUDY DESIGN: We constructed probes derived from specific subregions of human chromosomes 21, 18, 13, X, and Y that give a single copylike signal when used in conjunction with suppression hybridization. RESULTS: In a blind series of 47 samples all, including one trisomy 21, were correctly identified. The samples were correctly classified as disomic for five chromosomes. CONCLUSIONS: The combination of chromosome-specific probe sets composed primarily of cosmid contigs and optimized hybridization and detection allowed accurate chromosome enumeration in uncultured human chorionic villi; these results are consistent with those obtained by traditional cytogenetic analysis and suggest a use for fluorescence in situ hybridization as an adjunct to karyotyping when rapid results are needed.

引用

页码：1522 / 1525

页数：4

共 22 条

[1] A MORPHOLOGICAL DISTINCTION BETWEEN NEURONES OF THE MALE AND FEMALE, AND THE BEHAVIOUR OF THE NUCLEOLAR SATELLITE DURING ACCELERATED NUCLEOPROTEIN SYNTHESIS [J].