ArticlePrenatal diagnosis2021
The potential of expanded noninvasive prenatal screening for detection of microdeletion and microduplication syndromes.
Article in Prenatal diagnosis, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 37 citations in OpenAlex.
- 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
- Retrospective study on NIPT or NIPT plus combined with ultrasound in screening fetal chromosomal abnormalities.Scientific reports · 2025Article
- Blazing the Trail of Non-Invasive Prenatal Screening Expanded Use: Healthcare Providers' Perspectives.Prenatal diagnosis · 2025Article
- The value of increasing sequencing depth for noninvasive prenatal screening for whole chromosomal aneuploidy.Scientific reports · 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
- The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populations.Frontiers in medicine · 2025Article
- Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies.PloS one · 2025Article
- Evaluation of the clinical utility of NIPT-plus and analysis of adverse pregnancy outcomes.Archives of gynecology and obstetrics · 2024Article
- The performance evaluation of NIPT for fetal chromosome microdeletion/microduplication detection: a retrospective analysis of 68,588 Chinese cases.Frontiers in genetics · 2024Article
- Advancements of non-invasive prenatal testing: the role of obstetricians.Frontiers in medicine · 2024Review
- Frequency and pain intensity of painful procedures in premature infants hospitalized in the neonatal intensive care unit.Journal of education and health promotion · 2024Article
- Clinical Potential of Expanded Noninvasive Prenatal Testing for Detection of Aneuploidies and Microdeletion/Microduplication Syndromes.Molecular diagnosis & therapy · 2023Article
- Evaluation of the clinical effects of non-invasive prenatal screening for diseases associated with aneuploidy and copy number variation.Molecular genetics & genomic medicine · 2023Article
- Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication.European journal of medical research · 2023Article
- Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review.Molecular genetics & genomic medicine · 2023Review
- Clinical evaluation of non-invasive prenatal screening for the detection of fetal genome-wide copy number variants.Orphanet journal of rare diseases · 2022Article
- Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review.Molecular cytogenetics · 2022Article
- Current Perspectives of Prenatal Cell-free DNA Screening in Clinical Management of First-Trimester Septated Cystic Hygroma.International journal of women's health · 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
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11 authors at 2 institutions in 1 country.
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Abstract
objectivesTo evaluate the clinical potential of a higher resolution noninvasive prenatal screening (NIPS-Plus) test for detection of microdeletion/microduplication syndromes (MMS) in addition to common aneuploidies.
methodsIn a multicenter prospective study, 37,002 pregnant women with unremarkable first-trimester ultrasound scans had a NIPS-Plus test. Ultrasound screen positive women were not included in this study.
resultsOf 36,970 ultrasound negative women there were 291 NIPS-Plus screen positive results indicating 237 aneuploidies and 54 MMS. Following amniocentesis, 171 (72%) were confirmed as genuine, comprising 3 T13s, 10 T18s, 61 T21s, 70 SCAs and 27 MMS. The PPV for MMS with unremarkable ultrasound findings was 50%. Routine clinical examination of children born from NIPS-Plus negative pregnancies revealed no obvious signs of chromosome disease syndromes at one year of age.
conclusionsNIPS-Plus has the potential for clinical utility not only for routine aneuploid screening but also for MMS that do not show overt signs during early pregnancy ultrasound screening. We suggest that ultrasound with NIPS-Plus in combination with appropriate counselling could be considered as a comprehensive first-tier prenatal screening approach for all pregnant women.
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