ArticleArchives of gynecology and obstetrics2024
The value of combined detailed first-trimester ultrasound-biochemical analysis for screening fetal aneuploidy in the era of non-invasive prenatal testing.
Article in Archives of gynecology and obstetrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Ductus Venosus Agenesis in Fetuses: Epidemiological Data, Prenatal Findings, and Perinatal Outcomes-A Systematic Review.Journal of clinical medicine · 2026Review
- Sex-Specific Variation in Maternal Serum Screening Markers Across the First and Second Trimesters: Evidence from 10,384 Screened Pregnancies.Journal of clinical medicine · 2026Article
- Diagnostic Value of Choroid Plexus-to-Lateral Ventricle Volume Ratio (CLVVR) in First-Trimester Screening (11-13⁺International journal of general medicine · 2026Article
- Chromosomal structural abnormalities and tissue-specific mosaicism: insights into false-negative noninvasive prenatal testing.Frontiers in genetics · 2026Article
- Discrepancy between medical knowledge and clinical reasoning: evaluating large language models in prenatal diagnosis.Frontiers in digital health · 2026Article
- Improved contingent screening strategy increased trisomy 21 detection rate in the second trimester.Archives of gynecology and obstetrics · 2025Article
- Effectiveness of Fetal Medicine Foundation's Non-Biochemical Risk Calculation Algorithm in Detection of Common Trisomies Screening at 11-13 weeks of Gestation: 12 Years' Experience in Northern Thailand.International journal of women's health · 2025Article
- First-trimester serum biomarkers in twin pregnancies and adverse obstetric outcomes-a single center cohort study.Archives of gynecology and obstetrics · 2024Article
- Increasing utilization of intrauterine device insertion at hysteroscopic endometrial evaluation for patients with endometrial hyperplasia.Archives of gynecology and obstetrics · 2024Article
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThis study aimed to investigate the performance, cost-effectiveness and additional findings of combined detailed ultrasound and biochemical screening for risks of major fetal trisomies in the first-trimester.
methodsThis is a retrospective analysis study, we estimated the risk of trisomies 21, 18 and 13 based on maternal age, fetal nuchal translucency thickness, nasal bone, ductus venosus pulsatility index velocity, tricuspid regurgitation, fetal heart rate, free beta-human chorionic gonadotropin, and pregnancy-associated plasma protein A in singleton pregnant women, and performed non-invasive prenatal testing for women with risks of trisomy 21 between 1:500 and 1:300. Invasive diagnostic testing was performed for women with positive or failed non-invasive prenatal testing result and in the high-risk group of this screening method. The direct costs were compared between this strategy and the non-invasive prenatal testing which alone used as first-line screening for all pregnant women.
resultsAmong 25,155 singleton pregnant women who underwent screening, 24,361 were available for analysis, of these, 194 cases underwent non-invasive prenatal testing. Among the 24,361 women, 39, 19, and 7 had trisomies 21, 18 and 13, respectively. The use of this strategy could potentially detect approximately 94.87% of trisomy 21 cases, 100% of trisomy 18 cases, and 100% of trisomy 13 cases, with false-positive rates of 2.49%, 0.41%, and 0.49%, respectively. The overall detection rate and overall false-positive rates were 96.92% and 2.52%, respectively. The detection rate was 100% in the advanced age group and 94.12% in the general age group. Additionally, structural abnormalities were detected in 137 fetuses, and 44 fetuses had other chromosomal abnormalities. The total cost of this strategy was $3,730,843.30, and the cost per person tested was $153.15. The total cost of using non-invasive prenatal testing as the first-line strategy would be $6,813,387.04 and the cost per person tested was $279.68.
conclusionsOur strategy is an efficient and cost-effective approach for detecting major trisomies and identifying more fetuses with a potential abnormality. Therefore, this strategy is a valuable screening method and highly feasible in the clinical setting.
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