Non-invasive prenatal testing for whole chromosome abnormalities

被引：4

作者：

Demko, Zachary ^{[1
]}

Zimmermann, Bernhard ^{[1
]}

Rabinowitz, Matthew ^{[1
]}

机构：

[1] Natera Inc, San Carlos, CA 94070 USA

来源：

LABORATORIUMSMEDIZIN-JOURNAL OF LABORATORY MEDICINE | 2012年 / 36卷 / 05期

关键词：

aneuploidy; chromosomal abnormalities; non-invasive; prenatal; ANEUPLOIDY DETECTION; FETAL ANEUPLOIDY; MATERNAL BLOOD; DNA; DIAGNOSIS; AMNIOCENTESIS; RISK; 1ST-TRIMESTER; MULTICENTER; MICROARRAY;

D O I：

10.1515/labmed-2012-0026

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

After decades of anticipation, non-invasive prenatal testing for aneuploidy is now a reality. Three published methods, described herein, are able to test for certain whole-chromosome abnormalities in the fetus by sequencing and analyzing cell-free DNA in maternal plasma, a fraction of which is fetal.

引用

页码：263 / 267

页数：5

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