Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations

被引：44

作者：

Abou Tayoun, Ahmad N. ^{[1
,2
]}

Spinner, Nancy B. ^{[1
,2
]}

Rehm, Heidi L. ^{[3
,4
,5
]}

Green, Robert C. ^{[5
,6
]}

Bianchi, Diana W. ^{[7
,8
]}

机构：

[1] Childrens Hosp Philadelphia, Div Genom Diagnost, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA

[2] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA

[3] Partners Healthcare Personalized Med, Mol Med Lab, Cambridge, MA USA

[4] Harvard Med Sch, Brigham & Womens Hosp, Dept Pathol, Boston, MA USA

[5] Broad Inst MIT & Harvard, Cambridge, MA USA

[6] Harvard Med Sch, Brigham & Womens Hosp, Div Genet, Dept Med, Boston, MA USA

[7] Tufts Med Ctr, Mother Infant Res Inst, Boston, MA USA

[8] NHGRI, NIH, Bethesda, MD 20892 USA

来源：

PRENATAL DIAGNOSIS | 2018年 / 38卷 / 01期

关键词：

MATERNAL CELL CONTAMINATION; GENETIC DIAGNOSIS; EXOME; ABNORMALITIES; MUTATIONS; CHALLENGES; ANEUPLOIDY; DISORDERS; MOSAICISM; DISEASE;

D O I：

10.1002/pd.5038

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Clinical diagnostic laboratories are producing next-generation sequencing-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi, or products of conception is starting to be offered clinically in specialized centers, but it has not yet become routine practice. The technical, interpretation, and ethical challenges are greatest in the area of prenatal medicine because the fetus has a limited health history, and the physical examination is only indirectly available via prenatal sonography. Here, we provide an overview of these challenges and highlight the clinical utility, reporting, and counseling issues associated with prenatal DNA sequencing. Future considerations are also discussed. (c) 2017 John Wiley & Sons, Ltd.

引用

页码：26 / 32

页数：7

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