ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Prenatal reflex DNA screening for trisomies 21, 18, and 13.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. 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.
- Counseling prior to cfDNA screening: are we giving the right numbers?Archives of gynecology and obstetrics · 2025Article
- A new contingent screening strategy increased detection rate of trisomy 21 in the first trimester.BMC pregnancy and childbirth · 2023Article
- Article
- Nanostructures in non-invasive prenatal genetic screening.Biomedical engineering letters · 2022Review
- Antenatal screening for Down's syndrome: Revised nuchal translucency upper truncation limit due to improved precision of measurement.Journal of medical screening · 2021Article
- Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies.BMC pregnancy and childbirth · 2020Article
- Cytogenomic results following high-chance non-invasive prenatal testing: a UK national audit.Genetics research · 2020Article
- A Retrospective Analysis Of Different Contingent Screening Models For Fetal Down Syndrome In Southwestern China.Scientific reports · 2020Article
- Cost and efficacy comparison of prenatal recall and reflex DNA screening for trisomy 21, 18 and 13.PloS one · 2019Article
- Response to Wald et al.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
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10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe purpose of the study was to determine the screening performance of prenatal reflex DNA screening for trisomies 21 (T21), 18 (T18), and 13 (T13) as part of a routine service at five hospitals.
methodsWomen who accepted screening had a first-trimester combined test (pregnancy-associated plasma protein A, free β-human chorionic gonadotropin, nuchal translucency interpreted with maternal age). Those with a risk of having an affected pregnancy ≥1 in 800 were reflexed to a DNA sequencing test using stored plasma from the original blood sample, thereby avoiding the need to recall them.
resultsOf 22,812 women screened (including 106 with affected pregnancies), 2,480 (10.9%) were reflexed to DNA testing; 101/106 were detected (69/73 T21, 24/25 T18, and 8/8 T13), a 95% detection rate (95% confidence interval 89-98%) with four false positives (0.02%, 95% confidence interval 0.00-0.05%). The odds of being affected given a positive result were 25:1. Of the 105 screen-positive pregnancies, 91 (87%) had an invasive diagnostic test. Reflex DNA screening avoided up to 530 invasive diagnostic tests compared with using the combined test.
conclusionReflex DNA screening was successfully implemented in routine care, achieving a high detection rate, low false-positive rate, and, consequently, greater safety with fewer invasive diagnostic tests than other methods of screening.
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