ArticleJournal of assisted reproduction and genetics2022
Clinical utility of expanded NIPT for chromosomal abnormalities and etiology analysis of cytogenetic discrepancies cases.
Article in Journal of assisted reproduction and genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 17 citations in OpenAlex.
- Prenatal diagnosis strategies and pregnancy outcomes in the Luohe region of China in the context of increasing maternal age.Scientific reports · 2026Article
- Discrepant findings of prenatal diagnostics in a case of fetal partial trisomy 21 and fetoplacental mosaicism.Molecular cytogenetics · 2026Article
- A prospective study of non-invasive prenatal screening technology in preimplantation genetic testing cycles.Frontiers in medicine · 2026Article
- Public Perspectives Around Prenatal Screening of Chromosomal Abnormalities: A Focus Group Study Comparing Metropolitan and Rural/Regional Areas in Australia.The Australian & New Zealand journal of obstetrics & gynaecology · 2025Article
- Australian Preferences for Prenatal Screening: A Discrete Choice Experiment Comparing Metropolitan and Rural/Regional Areas.Applied health economics and health policy · 2025Article
- Is intermediate risk really intermediate? Comparison of karyotype and non-invasive prenatal testing results of pregnancies at intermediate risk of trisomy 21 on maternal serum screening.Journal of genetic counseling · 2025Article
- Analysis of prenatal diagnosis and pregnancy outcomes for rare autosomal trisomies detected by non-invasive prenatal testing in 33,079 cases.BMC medical genomics · 2025Article
- The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populations.Frontiers in medicine · 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
- Evaluation the Application of Karyotype Analysis and Chromosome Microarray in Prenatal Diagnosis.Iranian journal of public health · 2024Article
- Limited ability of increased sequencing depth in detecting cases missed by noninvasive prenatal testing: a comparative analysis of 3 clinical cases.Scientific reports · 2024Article
- Comparison of Chromosomal Microarray Analysis and Noninvasive Prenatal Testing in Pregnant Women with Fetal Ultrasonic Soft Markers.Risk management and healthcare policy · 2024Article
- Association of maternal risk factors with fetal aneuploidy and the accuracy of prenatal aneuploidy screening: a correlation analysis based on 12,186 karyotype reports.BMC pregnancy and childbirth · 2023Article
- Application of Copy Number Variation Sequencing Technology in 422 Foetuses with Abnormal Ultrasound Soft Markers.International journal of women's health · 2023Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThis study is to assess the performance of expanded noninvasive prenatal testing (NIPT) in detecting chromosome aneuploidies and chromosome copy number variants (CNVs), and elucidate the discordant cases between NIPT and fetal karyotype.
methodsA total of 2139 single pregnancies have been recruited and sequenced with expanded NIPT. Karyotype analysis and CNV sequencing (CNV-seq) of amniotic fluid were performed in 22 of 23 high-risk, three low-risk NIPT pregnant women with abnormal ultrasound findings in the follow-up, and three non-reportable NIPT pregnant women. The genetic investigation of discordant results between NIPT and amniocytes in three cases was proceeded. Placental samples, fetal samples from the limb, hip, umbilical cord, and maternal peripheral blood leukocytes were collected for CNV-Seq.
resultsExpanded NIPT revealed a total of 23 positive pregnancies and yielded the overall positive predictive value (PPV) 65.2%. For T21, T18, and XXY, all the PPV was 100% respectively. For CNVs > 10 Mb and 5-10 Mb, the PPV was 42.8% and 16.7%, respectively. The genetic investigation of placental and fetal samples indicated different levels of placental and fetal mosaicism contributing to two of three verified discordant results.
conclusionsThe results showed that screening for CNVs with expanded NIPT is promising although the accuracy rate remains insufficient. The different occurring time of mitotic non-disjunction of different chromosome in early development of embryo results in varying levels of chromosomal mosaicism in different placental and fetal tissues. The result highlights the significance of comprehensive cytogenetic validation of placental and fetal specimens with an inconsistent NIPT results.
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