The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)

被引：182
|
作者：
Monaghan, Kristin G. [1 ]
Leach, Natalia T. [2 ]
Pekarek, Dawn [3 ]
Prasad, Priya [4 ]
Rose, Nancy C. [5 ]
机构：
[1] GeneDx, Gaithersburg, MD USA
[2] Lab Corp Amer, Integrated Genet, Westborough, MA USA
[3] Ochsner Hlth Syst, Dept Obstet & Gynecol, New Orleans, LA USA
[4] Wayne State Univ, Dept Obstet & Gynecol, Detroit, MI USA
[5] Univ Utah, Dept Obstet & Gynecol, Salt Lake City, UT USA
来源：
GENETICS IN MEDICINE | 2020年 / 22卷 / 04期
关键词：
exome; prenatal diagnosis; fetal anomalies; CLINICAL EXOME; CHROMOSOMAL MICROARRAY; STANDARDS; RECOMMENDATIONS; IDENTIFICATION; GUIDELINES; STATEMENT;
D O I：
10.1038/s41436-019-0731-7
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：675 / 680
页数：6
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