Advantages of the single nucleotide polymorphismbased noninvasive prenatal test

• 발행기관: 대한의학유전학회
• 저자명: Kunwoo Kim
• 간행물 정보: 『대한의학유전학회지』제12권 제2호, 66~71쪽, 전체 6쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2015.12.31

영문 초록

Down syndrome screening with cell-free DNA (cfDNA) in the maternal plasma has recently received much attention in the prenatal diagnostic field. Indeed, a large amount of evidence has already accumulated to show that screening tests with cfDNA are more sensitive and specific than conventional maternal serum and/or ultrasound screening. Globally, more than 1,000,000 of these noninvasive prenatal tests (NIPTs) have been performed to date. There are several different methods for NIPTs that are currently commercially available, including shotgun massively parallel sequencing, targeted massively parallel sequencing, and single nucleotide polymorphism (SNP)-based methods. All of these methods have their own advantages and disadvantages. In this review, I will focus specifically on the SNP-based NIPT.

키워드

Prenatal diagnosis Single nucleotide polymorphism High-throughput nucleotide sequencing Noninvasive prenatal test Cell free DNA