Understanding False Negative in Prenatal Testing

被引:8
作者
Evans, Mark I. [1 ,2 ]
Chen, Ming [3 ,4 ,5 ,6 ]
Britt, David W. [1 ]
机构
[1] Icahn Sch Med Mt Sinai, Fetal Med Fdn Amer, New York, NY 10029 USA
[2] Icahn Sch Med Mt Sinai, Dept Obstet & Gynecol, New York, NY 10029 USA
[3] Changhua Christian Hosp, Dept Genom Med, Changhua 50046, Taiwan
[4] Natl Taiwan Univ Hosp, Coll Med, Dept Obstet & Gynecol, Taipei 10041, Taiwan
[5] Dayeh Univ, Dept Biomed Sci, Changhua 51591, Taiwan
[6] Natl Tsing Hua Univ, Dept Med Sci, Hsinchu 30013, Taiwan
关键词
down syndrome screening; noninvasive prenatal testing; microarray; neural tube defect; mendelian screening panel; SERUM ALPHA-FETOPROTEIN; DOWN-SYNDROME; RISK; DIAGNOSIS; BLOOD; DETERMINANTS; ANEUPLOIDY; QUALITY; CANCER; CELLS;
D O I
10.3390/diagnostics11050888
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
A false negative can happen in many kinds of medical tests, regardless of whether they are screening or diagnostic in nature. However, it inevitably poses serious concerns especially in a prenatal setting because its sequelae can mark the birth of an affected child beyond expectation. False negatives are not a new thing because of emerging new tests in the field of reproductive, especially prenatal, genetics but has occurred throughout the evolution of prenatal screening and diagnosis programs. In this paper we aim to discuss the basic differences between screening and diagnosis, the trade-offs and the choices, and also shed light on the crucial points clinicians need to know and be aware of so that a quality service can be provided in a coherent and sensible way to patients so that vital issues related to a false negative result can be appropriately comprehended by all parties.
引用
收藏
页数:10
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