Advance in research on cell-free fetal DNA for monogenic disorders.
10.3760/cma.j.cn511374-20210506-00386
- Author:
Peiqing HE
1
;
Jianan LIU
;
Yanhui LIU
Author Information
1. Dongguan Institute of Reproductive and Genetic Research, Dongguan Maternal and Child Health Care Hospital, Dongguan, Guangdong 523112, China. liuliang71215@163.com.
- Publication Type:Journal Article
- MeSH:
Cell-Free Nucleic Acids/genetics*;
DNA/genetics*;
Female;
Fetus;
Humans;
Phenotype;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2022;39(8):809-813
- CountryChina
- Language:Chinese
-
Abstract:
Monogenic disorders are varied and complex. Its overall incidence is high and the clinical phenotypes differ greatly, causing disability, mental retardation or death. It is an effective strategy to prevent the birth of newborns with monogenic disorders through prenatal screening and diagnosis. Cell-free fetal DNA based non-invasive prenatal testing for monogenic disorders has been applied in clinical practice. The range of diseases being tested is expanding, and the technology is continuously making breakthroughs. This article has provided a review over the research progress made in this field.
