ArticleHuman genomics2021
Performances of NIPT for copy number variations at different sequencing depths using the semiconductor sequencing platform.
Article in Human genomics, 2021. 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, 22 citations in OpenAlex.
- Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy-number variations in 9,708 pregnancies.Molecular cytogenetics · 2026Article
- Retrospective study on NIPT or NIPT plus combined with ultrasound in screening fetal chromosomal abnormalities.Scientific reports · 2025Article
- A relative-independent haplotype derivation method applied for noninvasive prenatal testing for chromosomal rearrangements in a pregnant carrier.Molecular genetics and genomics : MGG · 2025Article
- The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populations.Frontiers in medicine · 2025Article
- Evaluation of the clinical utility of NIPT-plus and analysis of adverse pregnancy outcomes.Archives of gynecology and obstetrics · 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
- The performance evaluation of NIPT for fetal chromosome microdeletion/microduplication detection: a retrospective analysis of 68,588 Chinese cases.Frontiers in genetics · 2024Article
- Performance of noninvasive prenatal testing for twin pregnancies in South China.Journal of assisted reproduction and genetics · 2023Article
- Prenatal diagnosis and outcomes in 320 fetuses with nasal bone anomalies.Frontiers in genetics · 2023Article
- Maternal Copy Number Imbalances in Non-Invasive Prenatal Testing: Do They Matter?Diagnostics (Basel, Switzerland) · 2022Article
- Clinical evaluation of non-invasive prenatal screening for the detection of fetal genome-wide copy number variants.Orphanet journal of rare diseases · 2022Article
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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
objectiveTo evaluate the performance of noninvasive prenatal testing (NIPT) and NIPT-PLUS for the detection of genome-wide microdeletion and microduplication syndromes (MMSs) at different sequencing depths. The NIPT sequencing depth was 0.15X, and the data volume was 3 million reads; the NIPT-PLUS sequencing depth was 0.4X, and the data volume was 8 million reads.
methodsA cohort of 50,679 pregnancies was recruited. A total of 42,969 patients opted for NIPT, and 7710 patients opted for NIPT-PLUS. All high-risk cases were advised to undergo invasive prenatal diagnosis and were followed up.
resultsA total of 373 cases had a high risk of a copy number variation (CNV) as predicted by NIPT and NIPT-PLUS: NIPT predicted 250 high-risk CNVs and NIPT-PLUS predicted 123. NIPT-PLUS increased the detection rate by 1.02% (0.58% vs 1.60%, p < 0.001). A total of 291 cases accepted noninvasive prenatal diagnosis, with 197 cases of NIPT and 94 cases of NIPT-PLUS. The PPV of CNV > 10 Mb for NIPT-PLUS was significantly higher than that for NIPT (p = 0.02). The total PPV of NIPT-PLUS was 12.56% higher than that of NIPT (43.61% vs 30.96%, p = 0.03).
conclusionNIPT-PLUS had a better performance in detecting CNVs in terms of the total detection rate and total PPV. However, great care must be taken in presenting results and providing appropriate counseling to patients when deeper sequencing is performed in clinical practice.
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