ArticleBMC pregnancy and childbirth2022
Whole genome non-invasive prenatal testing in prenatal screening algorithm: clinical experience from 12,700 pregnancies.
Article in BMC pregnancy and childbirth, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Clinical Implications and Limitations of Noninvasive Prenatal Testing for Detecting Fetal Copy Number Variations: A Multicenter Study in Shaanxi Province, China.Medical science monitor : international medical journal of experimental and clinical research · 2026Observational
- Evaluation of the prenatal diagnostic value of non-invasive prenatal testing for the detection of rare fetal autosomal trisomies: a single center study of 83,842 cases.Scientific reports · 2025Article
- Patient Preferences and Understanding of Genome-Wide Cell-Free DNA Screening for Foetal Chromosomal Imbalances: A Survey Study.Prenatal diagnosis · 2025Article
- Clinical Application of Noninvasive Prenatal Testing in Singleton Pregnancy with and without in vitro Fertilization: A 6-year Observational Study at a Single Tertiary Center.International journal of women's health · 2025Article
- Clinical experience of genome-wide non-invasive prenatal testing as a first-tier screening test in a cohort of 59,771 pregnancies.PloS one · 2025Article
- Observational
- Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing.Journal of personalized medicine · 2024Article
- Cell-Free Fetal DNA Screening Analysis in Korean Pregnant Women: Six Years of Experience and a Retrospective Study of 9327 Patients Analyzed from 2017 to 2022.Journal of personalized medicine · 2023Article
- Application of non-invasive prenatal testing to 91,280 spontaneous pregnancies and 3477 pregnancies conceived by in vitro fertilization.Molecular cytogenetics · 2023Article
- Analysis of retest reliability for pregnant women undergoing cfDNA testing with a no-call result.Molecular biology reports · 2023Article
- Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions.Diagnostics (Basel, Switzerland) · 2023Review
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9 authors.
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Abstract
backgroundA fast adoption of a non-invasive prenatal testing (NIPT) in clinical practice is a global tendency last years. Firstly, in Russia according a new regulation it was possible to perform a widescale testing of pregnant women in chromosomal abnormality risk. The aim of the study-to assess efficiency of using NIPT as a second-line first trimester screening test in Moscow.
methodsBased on the first trimester combined prenatal screening results 12,700 pregnant women were classified as a high-risk (cut-off ≥ 1:100) and an intermediate-risk (cut-off 1:101 - 1:2500) groups followed by whole genome NIPT. Women from high-risk group and those who had positive NIPT results from intermediate-risk group were considered for invasive prenatal diagnostic.
results258 (2.0%) samples with positive NIPT results were detected including 126 cases of trisomy 21 (T21), 40 cases of T18, 12 cases of T13, 41 cases of sex chromosome aneuploidies (SCAs) and 39 cases of rare autosomal aneuploidies (RAAs) and significant copy number variations (CNVs). Statistically significant associations (p < 0.05) were revealed for fetal fraction (FF) and both for some patient's (body mass index and weight) and fetus's (sex and high risk of aneuploidies) characteristics. NIPT showed as a high sensitivity as specificity for common trisomies and SCAs with an overall false positive rate 0.3%.
conclusionsNIPT demonstrated high sensitivity and specificity. As a second-line screening test it has shown a high efficiency in detecting fetus chromosomal anomalies as well as it could potentially lower the number of invasive procedures in pregnant women.
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