Nucleic acid-based non-invasive prenatal diagnosis of genetic skin diseases: are we ready?

被引:3
|
作者
Ma, Yonghui [1 ]
Gong, He [2 ]
Wen, Yaran [2 ]
机构
[1] Univ Manchester, Inst Sci Eth & Innovat, Manchester, Lancs, England
[2] Emory Univ, Dept Human Genet, Sch Med, Atlanta, GA 30322 USA
关键词
cell-free fetal nucleic acid; genetic skin disease; medical ethics; NIPD; responsibility; UNNA HEREDITARY HYPOTRICHOSIS; FETAL SEX DETERMINATION; HIDRADENITIS SUPPURATIVA; MATERNAL PLASMA; HARLEQUIN ICHTHYOSIS; MONOGENIC DISEASES; DNA; MUTATION; AMNIOCENTESIS; IDENTIFICATION;
D O I
10.1111/exd.12156
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
The discovery of circulating fetal nucleic acids is a great step on the way of developing non-invasive prenatal diagnosis (NIPD) for genetic disorders. Here, we briefly discuss the current applications of circulating fetal nucleic acids in genetic testing for different kinds of hereditary diseases with an emphasis on using circulating cell-free fetal DNA in diagnosis of monogenic disorders. As the genetic skin disorders impair the quality of life at different levels, we next discuss some ethical issues in NIPD for genetic skin diseases of various severities and in particular, the responsibility of doctors and parents, respectively, in the prenatal genetic testing.
引用
收藏
页码:392 / 395
页数:4
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