ArticleBMC medical genomics2021
Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies.
Article in BMC medical genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- AI-guided meta-analysis of non-invasive prenatal testing platforms for trisomy 21 screening: comparative evaluation of cffDNA and fetal cell-based approaches.BMC pregnancy and childbirth · 2026Pooled it
- Reappraising the topology of cell-free fetal DNA in maternal blood toward improved prenatal genetic diagnostics.Science advances · 2026Review
- Complementary Diagnostic Roles of Non-Invasive Prenatal Testing, Chromosomal Microarray Analysis, and Karyotyping in 14,011 High-Risk Pregnancies: A Retrospective Cohort Study with Combined Analyses.Journal of clinical medicine · 2026Article
- Case Report: Expanding the diagnostic spectrum of non-invasive prenatal testing to structural chromosomal abnormalities.Frontiers in genetics · 2026Article
- Results and indications changes by prenatal diagnosis of 3,458 pregnant women: a 10-year retrospective study.Annals of medicine · 2025Article
- Identification of maternalAnnals of medicine · 2025Article
- Residual Risks of Fetal Chromosome Aberrations When Cell-Free DNA Prenatal Screening Is Normal: A Retrospective Study.Prenatal diagnosis · 2025Article
- Article
- Implementation of circulating cell-free DNA screening for fetal aneuploidies.Advances in laboratory medicine · 2025Article
- Article
- Discrepancies Between Sex Prediction and Fetal Sex After Prenatal Noninvasive Cell-Free DNA Screening.Journal of the Endocrine Society · 2025Review
- Karyotyping with amniotic fluid in 6,572 pregnant women and pregnancy outcomes--A single-center retrospective study.PloS one · 2025Article
- Clinical Application of Noninvasive Prenatal Testing in Singleton Pregnancy with and without in vitro Fertilization: A 6-year Observational Study at a Single Tertiary Center.International journal of women's health · 2025Article
- High platelet distribution width affects the detection of fetal fraction of cell-free DNA detected by non-invasive prenatal testing.American journal of translational research · 2025Article
- The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populations.Frontiers in medicine · 2025Article
- Down syndrome burden in China and globally: a comparative analysis of 1990-2021 trends and future projections based on GBD 2021 database.Frontiers in public health · 2025Article
- Cardiovascular Diseases in Public Health: Chromosomal Abnormalities in Congenital Heart Disease Causing Sudden Cardiac Death in Children.Medicina (Kaunas, Lithuania) · 2024Review
- Article
- Mining nucleic acid "omics" to boost liquid biopsy in cancer.Cell reports. Medicine · 2024Review
- The Predictive Accuracy of Anogenital Distance and Genital Tubercle Angle for First-Trimester Fetal Sex Determination.Diagnostics (Basel, Switzerland) · 2024Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThis paper describes the clinical practice and performance of cell-free DNA sequencing-based non-invasive prenatal testing (NIPT) as a screening method for fetal trisomy 21, 18, and 13 (T21, T18, and T13) and sex chromosome aneuploidies (SCA) in a general Italian pregnancy population.
methodsThe AMES-accredited laboratory offers NIPT in maternal blood as a screening test for fetal T21, T18, T13 and SCA. Samples were sequenced on a NextSeq 550 (Illumina) using the VeriSeq NIPT Solution v1 assay.
resultsA retrospective analysis was performed on 36,456 consecutive maternal blood samples, including 35,650 singleton pregnancies, 800 twin pregnancies, and 6 triplet pregnancies. Samples were tested between April 2017 and September 2019. The cohort included 46% elevated-risk and 54% low-risk patients. A result indicative of a classic trisomy was found in 356 (1%) of singleton or twin samples: 254 T21, 69 T18, and 33 T13. In addition, 145 results (0.4%) were indicative of a SCA. Of the combined 501 screen-positive cases, 484 had confirmatory diagnostic testing. NIPT results were confirmed in 99.2% (247/249) of T21 cases, 91.2% (62/68) of T18 cases, 84.4% (27/32) of T13 cases, and 86.7% (117/135) of SCA cases. In the 35,955 cases reported as unaffected by a classic trisomy or SCA, no false negative cases were reported. Assuming that false negative results would be reported, the sensitivity of NIPT was 100.00% for T21 (95% Cl 98.47-100.0), T18 (95% Cl 94.17-100.0), and T13 (95% Cl 87.54-100.0). The specificities were 99.99% (95% Cl 99.98-100.0), 99.98% (95% Cl 99.96-100.0), 99.99% (95% Cl 99.97-100.0), and 99.95% (95% Cl 99.92-99.97) for T21, T18, T13, and SCA, respectively.
conclusionThis retrospective analysis of a large cohort of consecutive patients who had whole-genome sequencing-based NIPT for classic trisomies and SCA shows excellent detection rates and low false positive rates.
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