Prenatal Genetic Testing Options

被引：21

作者：

Jelin, Angie C. ^{[1
]}

Sagaser, Katelynn G. ^{[1
]}

Wilkins-Haug, Louise ^{[2
]}

机构：

[1] Johns Hopkins Univ Hosp, Div Maternal Fetal Med, Dept Gynecol & Obstet, 600 N Wolfe St,Phipps 222, Baltimore, MD 21287 USA

[2] Brigham & Womens Hosp, Dept Obstet & Gynecol, Div Maternal Fetal Med & Reprod Genet, 75 Francis St, Boston, MA 02115 USA

来源：

PEDIATRIC CLINICS OF NORTH AMERICA | 2019年 / 66卷 / 02期

关键词：

Prenatal genetic testing; Cefl-free DNA screening; Noninvasive prenatal testing; Prenatal diagnosis; FETAL NUCHAL TRANSLUCENCY; CELL-FREE DNA; MATERNAL PLASMA; UNITED-STATES; DOWN-SYNDROME; 1ST-TRIMESTER; RISK; ABNORMALITIES; MOSAICISM; DIAGNOSIS;

D O I：

10.1016/j.pcl.2018.12.016

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

All patients should be offered prenatal screening and diagnosis. Testing options depend on many factors, including patient age, family history, and patient preference. Options are rapidly changing with emerging technology. Aneuploidy screening options include ultrasound, maternal analytes, and cell-free DNA. Prenatal chromosomal microarray is the recommended diagnostic test for patients with anomalies visualized on prenatal ultrasound. Prenatal whole exome sequencing is clinically available but is limited by challenges with counseling, interpretation, and turnaround time. Future technologies are emerging and may soon allow for translation of prenatal diagnosis to in utero therapy.

引用

页码：281 / +

页数：14

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