Improved contingent screening strategy increased trisomy 21 detection rate in the second trimester.

IF 2.1 3区 医学 Q2 OBSTETRICS & GYNECOLOGY Archives of Gynecology and Obstetrics Pub Date : 2024-09-21 DOI:10.1007/s00404-024-07743-4
Wei Luo, Bin He, Daiwen Han, Lixing Yuan, Jun Tang, Ling Pang, Kai Zhao, Fene Zou, Ting Hu, Shanling Liu
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Abstract

Purpose: This study aimed to establish suitable threshold values for biochemical indicators in low-risk pregnant women who underwent second trimester screening and design strategies for consecutive prenatal testing to increase trisomy 21 detection.

Methods: This study examined singleton pregnant women who underwent double, triple, or quadruple screening in the second trimester over six years. To obtain adequate detection efficiency for low-risk pregnancies, threshold values for serum biochemical indicators were established, and a cost-effectiveness assessment of the improved contingent screening strategy was conducted.

Results: Participants were included in serum double- (n = 88,550), triple- (n = 29,991), and quadruple-screening (n = 15,004) groups. Threshold values were defined as having a free beta subunit of human chorionic gonadotropin (free β-hCG) multiple of the median (MoM) ≥ 2.50, alpha-fetoprotein (AFP) MoM ≤ 0.50, or unconjugated estriol (uE3) MoM ≤ 0.70 for low risk. Low-risk pregnancies, comprising 1.35% (988/73,183), 4.45% (1,171/26,286), and 11.91% (1,559/13,085) of the double-, triple-, and quadruple-screening groups, respectively, underwent further non-invasive prenatal screening. In the double-, triple-, and quadruple-screening groups, we detected 11.76% (2/17), 40.00% (2/5), and 66.67% (2/3) of trisomy 21 cases with false negative results, respectively, with the overall detection rates of 85.00% (85/100), 90.63% (29/32), and 95.24% (20/21), respectively, and decreased ratio of overall costs of 5.26%, 16.63%, and 24.36%, respectively.

Conclusion: Utilizing threshold values of AFP, free β-hCG, and uE3 to trigger further non-invasive prenatal screening may increase trisomy 21 detection in pregnancies deemed low risk in the second trimester while reducing the overall costs of screening strategies.

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改进后的应急筛查策略提高了 21 三体综合征在妊娠后三个月的检出率。
目的:本研究旨在为接受第二孕期筛查的低风险孕妇建立合适的生化指标阈值,并设计连续产前检测策略以提高 21 三体综合征的检出率:本研究对六年内接受第二孕期双胎、三胎或四胎筛查的单胎孕妇进行了调查。为使低风险妊娠获得足够的检测效率,确定了血清生化指标的阈值,并对改进后的或然筛查策略进行了成本效益评估:结果:参与者分为血清双重筛查组(88,550 人)、三重筛查组(29,991 人)和四重筛查组(15,004 人)。阈值定义为游离β亚单位人绒毛膜促性腺激素(游离β-hCG)中位数的倍数(MoM)≥2.50,甲胎蛋白(AFP)MoM≤0.50,或非结合雌三醇(uE3)MoM≤0.70为低风险。在双筛组、三筛组和四筛组中,分别有 1.35%(988/73183)、4.45%(1171/26286)和 11.91%(1559/13085)的低风险孕妇接受了进一步的无创产前筛查。在双筛组、三筛组和四筛组中,我们分别检出了11.76%(2/17)、40.00%(2/5)和66.67%(2/3)的21三体综合征假阴性病例,总检出率分别为85.00%(85/100)、90.63%(29/32)和95.24%(20/21),总费用下降率分别为5.26%、16.63%和24.36%:结论:利用 AFP、游离 β-hCG 和 uE3 的阈值来触发进一步的无创产前筛查,可提高在第二孕期被视为低风险妊娠的 21 三体综合征的检出率,同时降低筛查策略的总体成本。
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来源期刊
CiteScore
4.70
自引率
15.40%
发文量
493
审稿时长
1 months
期刊介绍: Founded in 1870 as "Archiv für Gynaekologie", Archives of Gynecology and Obstetrics has a long and outstanding tradition. Since 1922 the journal has been the Organ of the Deutsche Gesellschaft für Gynäkologie und Geburtshilfe. "The Archives of Gynecology and Obstetrics" is circulated in over 40 countries world wide and is indexed in "PubMed/Medline" and "Science Citation Index Expanded/Journal Citation Report". The journal publishes invited and submitted reviews; peer-reviewed original articles about clinical topics and basic research as well as news and views and guidelines and position statements from all sub-specialties in gynecology and obstetrics.
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