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

页码：2017 / 2019

页数：3

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