Non Invasive Prenatal Test by Next Generation Sequencing

• 영문명: Non Invasive Prenatal Test by Next Generation Sequencing
• 발행기관: 대한의학유전학회
• 저자명: 이민섭(Lee Min Seob)
• 간행물 정보: 『대한의학유전학회 학술대회 논문집』2014년 추계학술대회 발표집, 1~3쪽, 전체 3쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2014.12.05

영문 초록

A prenatal genetic and/or chromosomal abnormality test can be performed by a variety of invasive or non-invasive methods. The current invasive fetal diagnosis method such as amniocentesis or CVS is considered a golden standard for fetal genetic and aneuploidy testing, it involves not only risks and complications, but also the procedure is fairly expensive and complicate to perform. Non-invasive techniques include examinations of blood, plasma and serum for various analytes that can detect, predict and monitor diverse clinical conditions and outcomes of fetus. However, existing non-invasive prenatal tests such as serum screening shows a lack of high sensitivity and specificity for a reliable detection of informative signals due to an indirect measurement, low sample quantity and high background within the obtained sample.