Kosin Medical Journal

Review article

Clinical applications and advancements in noninvasive prenatal diagnosis: Sul Lee, Jin Hyuk Choi, Jong Hyouk Yun, Su Hwan Kang, Jesang Yu, Jihun Kang, Chang Zoo Kim, Taek Yong Ko, Hanggoo Yun; Kosin Med J. 2025;40(2):106-115. Published online June 30, 2025; DOI: https://doi.org/10.7180/kmj.25.118

Abstract PDF PubReader ePub: 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.

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