Kunanukulwatana Chayanid, Tongprasert Fuanglada, Luewan Suchaya, Tongsong Theera
Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
Int J Womens Health. 2025 Jun 5;17:1693-1699. doi: 10.2147/IJWH.S526271. eCollection 2025.
To evaluate the efficacy of first-trimester non-biochemical screening using the Fetal Medicine Foundation (FMF) algorithm in predicting fetal common trisomies (trisomy 21, 18, and 13) in clinical practice.
Between 2011 and 2023, the non-biochemical screening was routinely performed at 11+0-13+6 weeks' gestation in 9591 singleton pregnancies at Maharaj Nakorn Chiang Mai Hospital, Thailand. The individual risks for common fetal trisomies were calculated by combining maternal age, history of common trisomies in a previous pregnancy, nuchal translucency thickness, and fetal heart rate using the official FMF algorithm. Women with risk of ≥1:250 were classified as high risk. The fetal karyotyping results and pregnancy outcomes were reviewed and analyzed.
A total of 8491 complete data sets of singleton pregnancies were analyzed. The incidence of common trisomies was 0.5% (46 cases), including 0.3% (28 cases) of trisomy 21, 0.1% (9 cases) of trisomy 18 and 0.1% (9 cases) of trisomy 13. With a cut-off risk of 1:250, FMF algorithm performance for trisomy 21 screening had a sensitivity of 60.7%, specificity of 97.6%, PPV of 7.7%, NPV of 99.9%, and a false positive rate of 2.4%. The performance for detecting all common trisomies demonstrated a sensitivity of 52.2%, specificity of 97.2%, PPV of 9.2%, NPV of 99.7%, and a false positive rate 2.8%.
The first trimester non-biochemical FMF algorithm is sufficiently effective in predicting common trisomies, particularly trisomy 21. This simple approach can be easily implemented in clinical practice, including healthcare facilities that lack access to maternal blood testing services.
评估使用胎儿医学基金会（FMF）算法进行孕早期非生化筛查在临床实践中预测胎儿常见三体综合征（21三体、18三体和13三体）的有效性。
2011年至2023年期间，泰国清迈玛哈拉吉医院对9591例单胎妊娠在孕11⁺⁰至13⁺⁶周进行常规非生化筛查。采用官方FMF算法，结合孕妇年龄、既往妊娠常见三体综合征病史、颈项透明层厚度和胎儿心率，计算胎儿常见三体综合征的个体风险。风险≥1:250的女性被归类为高危。回顾并分析胎儿核型分析结果和妊娠结局。
共分析了8491例单胎妊娠的完整数据集。常见三体综合征的发生率为0.5%（46例），其中21三体为0.3%（28例），18三体为0.1%（9例），13三体为0.1%（9例）。以1:250为截断风险，FMF算法对21三体筛查的灵敏度为60.7%，特异度为97.6%，阳性预测值为7.7%，阴性预测值为99.9%，假阳性率为2.4%。检测所有常见三体综合征的性能显示灵敏度为52.2%，特异度为97.2%，阳性预测值为9.2%，阴性预测值为99.7%，假阳性率为2.8%。
孕早期非生化FMF算法在预测常见三体综合征，尤其是21三体方面足够有效。这种简单的方法可以在临床实践中轻松实施，包括那些无法获得孕妇血液检测服务的医疗机构。
