Clinical applications and advancements in noninvasive prenatal diagnosis

• Published in: Kosin Medical Journal (Online) Vol. 40; no. 2; pp. 106 - 115
• Main Authors: Lee, Sul, Choi, Jin Hyuk, Yun, Jong Hyouk, Kang, Su Hwan, Yu, Jesang, Kang, Jihun, Kim, Chang Zoo, Ko, Taek Yong, Yun, Hanggoo
• Format: Journal Article
• Language: English
• Published: Kosin University College of Medicine 01.06.2025; 고신대학교 의과대학 학술지
• Subjects: genome-wide nipt; nipt-plus; noninvasive prenatal testing screening; 의학일반
• ISSN: 2005-9531; 2586-7024
• DOI: 10.7180/kmj.25.118

Noninvasive prenatal testing (NIPT) is widely performed and enables the detection of fetal chromosomal abnormalities through the analysis of cell-free fetal DNA in maternal blood. Since its introduction in 2011, NIPT has demonstrated high sensitivity and specificity for common trisomies (trisomy 21, trisomy 18, trisomy 13), and its scope has rapidly expanded to include sex chromosome aneuploidies, microdeletion syndromes, and single-gene disorders. However, the widespread adoption of NIPT has brought new challenges, including technical limitations (e.g., low fetal fraction, placental mosaicism), interpretation of variants of uncertain significance, and ethical concerns related to over-screening and patient anxiety. This review summarizes the historical evolution, technical advances, clinical applications, limitations, and future perspectives of NIPT, emphasizing the need for balanced clinical implementation and ongoing innovation.