ArticleJournal of personalized medicine2024
Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing.
Article in Journal of personalized medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 7 citations in OpenAlex.
- Twenty-Two Years of Prenatal Testing for Suspected Monogenic Disorders: A Retrospective Single-Center Experience in Western Romania.Medical sciences (Basel, Switzerland) · 2026Article
- Reproductive Genetic Carrier Screening in Romania: A Couple-Based Study of Pathogenic Molecular Variants.International journal of molecular sciences · 2026Article
- Improved positive predictive value of non-invasive prenatal testing through integration with second-trimester ultrasound soft markers for fetal chromosomal abnormalities: a retrospective cohort study.Frontiers in endocrinology · 2026Article
- The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.International journal of molecular sciences · 2025Article
- Micrognathia as a Diagnosis Marker for the Prenatal Identification of Edwards Syndrome.Biomedicines · 2025Article
- Performance and clinical implications of non-invasive prenatal testing for rare chromosomal abnormalities: a retrospective study of 94,125 cases.Frontiers in molecular biosciences · 2025Article
- NIPT Integration as a Patient-Paid Prenatal Screening Option-Observations and Challenges from a Bulgarian Genetic Counseling Center.Medical sciences (Basel, Switzerland) · 2024Article
- The Impact of Chromosomal Mosaicisms on Prenatal Diagnosis and Genetic Counseling-A Narrative Review.Journal of personalized medicine · 2024Review
- Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies.Journal of clinical medicine · 2024Article
- Comparative analysis of obstetric, perinatal, and neurodevelopmental outcomes following chorionic villus sampling and amniocentesis.Frontiers in medicine · 2024Article
Corrections and comments
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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
This study represents our second investigation into NIPT, involving a more extensive patient cohort with a specific emphasis on the high-risk group. The high-risk group was subsequently divided into two further groups to compare confirmed cases versus unconfirmed via direct methods. The methodology encompassed the analysis of 1400 consecutive cases from a single genetic center in western Romania, where NIPT was used to assess the risk of specific fetal chromosomal abnormalities. All high-risk cases underwent validation through direct analysis of fetal cells obtained via invasive methods, including chorionic villus sampling and amniocentesis. The confirmation process utilized QF-PCR, karyotyping, and SNP-Array methods customized to each case. Results: A high risk of aneuploidy at NIPT was identified in 36 out of 1400 (2.57%) cases and confirmed in 28 cases. The study also detected an increased risk for copy number variations (CNVs) in 1% of cases, confirmed in two instances involving one large microdeletion and one large microduplication. Trisomy 21 was the exclusive anomaly where NIPT confirmed all cases with identified risk. High-risk NIPT results which were not validated by invasive methods, were classified as false positives; parents in these cases determined to continue the pregnancy. In conclusion, NIPT can serve as a screening method for all pregnancies; however, in high-risk cases, an invasive confirmation test is strongly recommended.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.