ArticleJournal of assisted reproduction and genetics2020
Next-generation sequencing: a follow-up of 36,913 singleton pregnancies with noninvasive prenatal testing in central China.
Article in Journal of assisted reproduction and genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 32 citations in OpenAlex.
- METTL3-mediated mTranslational psychiatry · 2026Article
- Cell-free DNA screening for trisomies 21, 18, and 13: Clinical application and accuracy evaluation.PloS one · 2025Article
- Application of non-invasive prenatal testing for fetal chromosomal disorders in low-risk pregnancies: a follow-up study in central China.Frontiers in genetics · 2025Article
- The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populations.Frontiers in medicine · 2025Article
- Automatic Single-Cell Harvesting for Fetal Nucleated Red Blood Cell Isolation on a Self-Assemble Cell Array (SACA) Chip.Micromachines · 2024Article
- Clinical evaluation of noninvasive prenatal testing for sex chromosome aneuploidies in 9,176 Korean pregnant women: a single-center retrospective study.BMC pregnancy and childbirth · 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
- The role of non-invasive prenatal testing and ultrasound in prenatal screening of fetal chromosomal abnormalities in singleton: a retrospective study.Annals of translational medicine · 2023Article
- Trends in the prevalence, prenatal diagnosis, and outcomes of births with chromosomal abnormalities: a hospital-based study in Zhejiang Province, China during 2014-2020.Orphanet journal of rare diseases · 2022Article
- The accuracy and feasibility of noninvasive prenatal testing in a consecutive series of 20,626 pregnancies with different clinical characteristics.Journal of clinical laboratory analysis · 2022Article
- 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
- Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review.Molecular cytogenetics · 2022Article
- Clinical utility of expanded NIPT for chromosomal abnormalities and etiology analysis of cytogenetic discrepancies cases.Journal of assisted reproduction and genetics · 2022Article
- Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China.Frontiers in genetics · 2022Article
- A retrospective single-center analysis of prenatal diagnosis and follow-up of 626 chinese patients with positive non-invasive prenatal screening results.Frontiers in genetics · 2022Article
- Clinical Application of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies in Central China.Frontiers in medicine · 2021Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo evaluate the noninvasive prenatal testing (NIPT) results of 36,913 cases in Jiangxi province of central China and explore its application value in prenatal screening and diagnosis.
methodsThis retrospective analysis included 36,913 singleton pregnant women who underwent NIPT because of moderate-/high-risk pregnancy or voluntary requirements between January 2017 and December 2019 in our hospital. Chromosomal abnormalities such as trisomies 21, 18, and 13 (T21, T18, T13) and sex chromosome aneuploidies (SCAs) were judged by standard Z-score analysis. Positive NIPT results were confirmed by amniocentesis and karyotyping. Pregnancy outcomes were followed up via telephone interview.
resultsA total of 1.01% (371/36,913) positive cases were detected by NIPT, comprising 137, 46, 31, and 157 cases of T21, T18, T13, and SCAs, respectively. A total of 116 of T21, 27 of T18, 13 of T13, and 51 of SCAs were confirmed to be true positive; all normal cases that had been followed up were verified to be true negative. The NIPT sensitivity in T21, T18, T13, and SCAs was 100.00% individually, whereas the specificity was 99.94% (36,488/36,509), 99.95% (36,579/36,598), 99.95% (36,594/36,612), and 99.72% (36,472/36,574), respectively. Furthermore, the negative predictive values of T21, T18, T13, and SCAs were all 100%, while the positive predictive values were 84.67%, 58.70%, 41.94%, and 33.33%, respectively.
conclusionNIPT is highly sensitive and has a low false positive rate in testing clinically significant fetal aneuploidies of general reproductive women. However, this technique cannot substitute for amniocentesis and karyotyping, and detailed genetic counseling is also essential for the high-risk group of NIPT.
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