胎儿单基因遗传病无创产前检测的研究现状

Current research status on non-invasive prenatal testing for fetal with single gene inheritance diseases

单基因遗传病(single gene inheritance disease),又可被简称为单基因病(monogenic inheritance),是导致新生儿出生缺陷的主要原因之一。目前临床对绝大多数该病患儿尚无有效治疗手段,该病患儿出生给社会和家庭造成巨大负担。因此,对胎儿单基因病的产前筛查与诊断十分重要。目前无创产前检测(NIPT)作为一种新的检测胎儿单基因病的技术,因其具有采样安全、方便、早孕期无创检测等优势,受到产前诊断领域越来越多关注。笔者拟对胎儿单基因病NIPT技术及其应用前景与临床开展面临的挑战的最新研究现状进行阐述。

Single gene inheritance disease also known as monogenic inheritance,is one of the main causes of birth defects in newborns.The vast majority single gene inheritance diseases still lack effective treatment methods up to now,and cause a huge burden on society and families of children with gene inheritance diseases.Therefore,prenatal screening and diagnosis of fetal with single gene inheritance diseases are very important.At present,non-invasive prenatal testing(NIPT),as a new technology for detecting fetal with single gene inheritance diseases,has attracted increasing attention in the field of prenatal diagnosis due to its advantages of sampling safety,convenience,and non-invasive early pregnancy detection.The authors intended to elaborate on the latest research status of the technical methods,application prospects,and clinical challenges of NIPT for fetal with single gene inheritancediseases.