ArticlePrenatal diagnosis2022
Cell-free DNA screening for rare autosomal trisomies and segmental chromosome imbalances.
Article in Prenatal diagnosis, 2022. 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.
- Chromosomal and genetic anomalies in fetuses with nuchal translucency between 3.0 and 3.4 mm: A systematic review and meta-analysis.Acta obstetricia et gynecologica Scandinavica · 2026Review
- Clinical Utility of Opportunistic Genome-Wide cfDNA Prenatal Screening in Intermediate-Risk Pregnancies.Genes · 2025Article
- Noninvasive prenatal tests for chromosomal abnormality screening in in vitro fertilisation elderly pregnant women in northwest China.Journal of medical biochemistry · 2025Article
- Repeat cell-free DNA screening after initial false-positive results and term placental analysis for confined mosaicism: a prospective cohort study.Archives of gynecology and obstetrics · 2025Article
- Screening Positive for Rare Autosomal Aneuploidies Increases Frequency of Adverse Pregnancy Outcomes and Alters Clinical Management.Prenatal diagnosis · 2025Article
- Evaluation of the prenatal diagnostic value of non-invasive prenatal testing for the detection of rare fetal autosomal trisomies: a single center study of 83,842 cases.Scientific reports · 2025Article
- Patient Preferences and Understanding of Genome-Wide Cell-Free DNA Screening for Foetal Chromosomal Imbalances: A Survey Study.Prenatal diagnosis · 2025Article
- Article
- [Value of non-invasive prenatal testing for rare autosomal trisomies in fetuses].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2023Article
- Cell-free DNA screening for rare autosomal trisomies and segmental chromosome imbalances.Prenatal diagnosis · 2022Article
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo assess the outcomes of pregnancies at high-risk for rare autosomal trisomies (RATs) and segmental imbalances (SIs) on cell-free DNA (cfDNA) screening.
methodA retrospective study of women who underwent cfDNA screening between September 2019 and July 2021 at three ultrasound services in Australia. Positive predictive values (PPVs) were calculated using fetal chromosomal analysis.
resultsAmong 23,857 women screened, there were 93 high-risk results for RATs (0.39%) and 82 for SIs (0.34%). The PPVs were 3.8% (3/78, 95% CI 0.8%-10.8%) for RATs and 19.1% (13/68, 95% CI 10.6%-30.5%) for SIs. If fetuses with structural anomalies were also counted as true-positive cases, the PPV for RATS increased to 8.5% (7/82, 95% CI 3.5%-16.8%). Among 85 discordant cases with birth outcomes available (65.4%), discordant positive RATs had a significantly higher proportion of infants born below the 10th and 3rd birthweight percentiles than expected (19.6% (p = 0.022) and 9.8% (p = 0.004), respectively), which was not observed in the SI group (2.9% < 10th (p = 0.168) and 0.0% <3rd (p = 0.305)).
conclusionThe PPVs for SI and RAT results are low, except when a structural abnormality is also present. Discordant positive RATs are associated with growth restriction.
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