Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing

被引：14
|
作者：
Miceikaite, Ieva [1 ]
Hao, Qin [2 ]
Brasch-Andersen, Charlotte [2 ]
Fagerberg, Christina R. [2 ]
Torring, Pernille M. [2 ]
Kristiansen, Britta S. [2 ]
Ousager, Lilian B. [1 ]
Sperling, Lene [2 ]
Ibsen, Mette H. [3 ]
Loser, Katrin [4 ]
Larsen, Martin J. [1 ]
机构：
[1] Univ Southern Denmark, Odense, Denmark
[2] Odense Univ Hosp, Odense, Denmark
[3] Univ Hosp Southwestern Jutland, Esbjerg, Denmark
[4] Hosp Southern Jutland, Aabenraa, Denmark
来源：
NEW ENGLAND JOURNAL OF MEDICINE | 2023年 / 389卷 / 21期
关键词：
D O I：
10.1056/NEJMc2307918
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Exome sequencing of cell-free DNA from noninvasively obtained samples from 36 pregnant women and their partners found diagnostic variants in 11 of the fetuses, with 100% concordance with results from invasively obtained samples.
引用
收藏
页码：2017 / 2019
页数：3
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