ArticleJournal of Korean medical science2019
Clinical Validation of Non-Invasive Prenatal Testing for Fetal Common Aneuploidies in 1,055 Korean Pregnant Women: a Single Center Experience.
Article in Journal of Korean medical science, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
11 citing papers in PubMed, 2 syntheses or guidelines pooled it, 20 citations in OpenAlex.
- Healthcare professionals' perspectives on and experiences with non-invasive prenatal testing: a systematic review.Human genetics · 2025Pooled it
- Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine: (1) Prenatal Aneuploidy Screening.Journal of Korean medical science · 2021Guideline
- Clinical application of fetal Nuchal Translucency combined with noninvasive prenatal testing in screening chromosome abnormalities.PloS one · 2026Article
- Predictive value of the maternal alpha-fetoprotein variant, L2, during the first trimester of pregnancy screening for fetal trisomy 21, trisomy 18, and neural tube defects.BMC pregnancy and childbirth · 2025Article
- Noninvasive Prenatal Testing Test Versus Chorionic Villus Sampling, Where Are We Now?Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2024Article
- Cell-Free Fetal DNA for Prenatal Screening of Aneuploidies and Autosomal Trisomies: A Systematic Review.International journal of pediatrics · 2024Review
- Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions.Diagnostics (Basel, Switzerland) · 2023Review
- A Critical Evaluation of Validation and Clinical Experience Studies in Non-Invasive Prenatal Testing for Trisomies 21, 18, and 13 and Monosomy X.Journal of clinical medicine · 2022Article
- Clinical evaluation of non-invasive prenatal screening in 32,394 pregnancies from Changzhi maternal and child health care hospital of Shanxi China.Journal of medical biochemistry · 2022Article
- Reliability of Cell-Free DNA and Targeted NGS in Predicting Chromosomal Abnormalities of Patients With Myeloid Neoplasms.Frontiers in oncology · 2022Article
- A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC).Molecular cytogenetics · 2021Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundNon-invasive prenatal testing (NIPT) using cell-free fetal DNA from maternal plasma for fetal aneuploidy identification is expanding worldwide. The objective of this study was to evaluate the clinical utility of NIPT for the detection of trisomies 21, 18, and 13 of high-risk fetus in a large Korean population.
methodsThis study was performed retrospectively, using stored maternal plasma from 1,055 pregnant women with singleton pregnancies who underwent invasive prenatal diagnosis because of a high-risk indication for chromosomal abnormalities. The NIPT results were confirmed by karyotype analysis.
resultsAmong 1,055 cases, 108 cases of fetal aneuploidy, including trisomy 21 (n = 57), trisomy 18 (n = 42), and trisomy 13 (n = 9), were identified by NIPT. In this study, NIPT showed 100% sensitivity and 99.9% specificity for trisomy 21, and 92.9% sensitivity and 100% specificity for trisomy 18, and 100% sensitivity and 99.9% specificity for trisomy 13. The overall positive predictive value (PPV) was 98.1%. PPVs for trisomies 21, 18, and 13 ranged from 90.0% to 100%.
conclusionThis study demonstrates that our NIPT technology is reliable and accurate when applied to maternal DNA samples collected from pregnant women. Further large prospective studies are needed to adequately assess the performance of NIPT.
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Registered trials
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