Development of the technologies and cognition of prenatal screening and prenatal diagnosis in an era of molecular genetics

• DOI: 10.1360/ssv-2021-0128
• Publication Date: 2021-07-06T01:39:46Z
• Authors: QingWei QI; XiYa ZHOU; YuLin JIANG; Yan LV; JunTao LIU
• Keywords: Prenatal screening; Molecular Genetics; Prenatal development; Medical genetics

<p indent="0mm">Original prenatal diagnostic testing focused primarily on chromosomal aneuploidies. Advances in genetics and genomic medicine have led to a dramatic increase the availability of genetic testing, including period. Prenatal diagnosis is available for an ever-increasing number disorders, copy variants, single gene uniparental disomy. has stepped from cytogenetic era into molecular era. At same time, screening improved with development cell-free DNA (cfDNA) screening, as well expanded carrier broad array inherited conditions. The advances technologies promote scientific research this area altered people’s cognition diagnosis.