ArticleScientific reports2025
Retrospective study on NIPT or NIPT plus combined with ultrasound in screening fetal chromosomal abnormalities.
Article in Scientific reports, 2025. 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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Who cites it
10 citing papers in PubMed.
- Global and Chinese co-occurrence patterns association with socio-demographic index for congenital heart disease and Down syndrome, 1990-2021.Translational pediatrics · 2026Article
- Alpha-Fetoprotein as a Biomarker in Pregnancy: From Genetic Disorders to Obstetric Complications.Current issues in molecular biology · 2026Review
- 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
- Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy-number variations in 9,708 pregnancies.Molecular cytogenetics · 2026Article
- False Positive or False Negative-An Interesting Case in Prenatal Diagnostic Laboratory.Journal of clinical laboratory analysis · 2026Article
- Prenatal genetic findings and pregnancy outcomes in fetuses with congenital heart disease: a decade-long retrospective analysis at a tertiary hospital.Frontiers in medicine · 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
- Ultrasound and genetic findings in a case series of fetuses presenting vertebral defects.BMC pregnancy and childbirth · 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
- Ultrasound combined with molecular genetics to diagnose hereditary Renpenning syndrome in early pregnancy: a case report.Frontiers in genetics · 2025Article
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8 authors.
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Abstract
This retrospective study analyzed 306 pregnant women, with 182 undergoing genetic testing using NIPT plus and CMA, and 124 undergoing standard NIPT and CMA. The study aimed to compare the clinical performance of NIPT and NIPT plus in prenatal evaluation by using CMA as the gold standard to assess the diagnostic efficiency of the two screening methods. NIPT plus and NIPT results were correlated with ultrasound findings to evaluate their accuracy and clinical utility. The diagnostic performance of each method was compared against CMA to assess sensitivity, specificity, false positive and false negative rates, as well as positive predictive value and negative predictive value. The combined use of NIPT plus and ultrasound significantly improved the detection rate of sex chromosome aneuploidy (SCA), microdeletion/microduplication syndromes (MMS), and rare autosomal trisomies (RAT) compared to NIPT plus alone. Ultrasound combined with NIPT plus achieved the highest sensitivity (88.24%) for SCA/RAT/ MMS. However, NIPT plus exhibited a higher false positive rate compared to standard NIPT. In contrast, NIPT combined with ultrasound demonstrated the highest PPV (88.89%) for common trisomies (T13, T18, T21). False negatives were more prevalent in standard NIPT, particularly for SCA, MMS, and RAT, emphasizing its limitations for detecting complex chromosomal abnormalities. NIPT plus, when combined with ultrasound, offers significant improvements in the detection of rare chromosomal abnormalities like SCA, MMS, and RAT, while maintaining high detection rates for common trisomies. Although NIPT plus has a higher false positive rate, the inclusion of ultrasound enhances screening accuracy and clinical decision-making. This study supports the use of NIPT plus combined with ultrasound as the optimal screening strategy, particularly for rare and complex chromosomal abnormalities, while standard NIPT remains highly effective for screening common trisomies.
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