Hsiao Ching-Hua, Cheng Po-Jen, Shaw S W Steven, Hsu Jenn-Jeih, Chen Ran-Chou, Tseng Yin-Jiun, Chu Woei-Chyn
Department of Obstetrics and Gynecology, Taipei City Hospital, Women and Children Campus, Taipei, Taiwan, ROC.
Fetal Diagn Ther. 2014;35(4):296-301. doi: 10.1159/000357564. Epub 2014 Feb 6.
To examine the performance of first-trimester screening test combining several fetal sonographic and maternal biochemical markers for major aneuploidy in a Chinese population.
This was a prospective study performed over 5 years between January 2005 and December 2010 in Taiwan, with 20,586 cases that had a combination of a variety of sonographic markers and maternal serological β-human chorionic gonadotropin and pregnancy-associated plasma protein-A levels assessed at first trimester screening between 11(+0) and 13(+6) weeks of gestation. The risk of aneuploidy was calculated using algorithm software developed by Fetal Medicine Foundation, London. Fetal karyotyping was performed when the prenatal screening showed a risk of 1/300 or higher. All cases were followed for fetal outcome.
The study population was divided into four groups according to the screening strategy performed. The combination of maternal serological biochemistry and nuchal translucency measurement had a 66.7% detection rate of trisomy 21. Addition of nasal bone status increased the detection rate of trisomy 21 to 88.2%. Inclusion of tricuspid regurgitation flow showed an 87.5% detection rate of trisomy 21. Further inclusion of ductus venosus flow increased the detection rate of trisomy 21 to 100%. Incorporating more markers greatly increased the detection rate and decreased the false-positive rate (FPR).
Extension of first-trimester screening to include more sonographic markers greatly increased the sensitivity and decreased FPR for detection of chromosomal abnormalities. Such screening strategy is effective in clinical practice for the Chinese ethnic population.
探讨孕早期联合多种胎儿超声及母体生化标志物筛查主要染色体非整倍体在中国人群中的表现。
这是一项前瞻性研究，于2005年1月至2010年12月在台湾进行了5年，共有20586例病例，在妊娠11（+0）至13（+6）周的孕早期筛查中评估了多种超声标志物与母体血清β-人绒毛膜促性腺激素及妊娠相关血浆蛋白-A水平的组合情况。使用伦敦胎儿医学基金会开发的算法软件计算染色体非整倍体风险。当产前筛查显示风险为1/300或更高时，进行胎儿核型分析。所有病例均随访胎儿结局。
根据所采用的筛查策略将研究人群分为四组。母体血清生化指标与颈部透明带测量相结合，21三体的检出率为66.7%。增加鼻骨状态后，21三体的检出率提高到88.2%。纳入三尖瓣反流血流后，21三体的检出率为87.5%。进一步纳入静脉导管血流后，21三体的检出率提高到100%。纳入更多标志物可大幅提高检出率并降低假阳性率（FPR）。
将孕早期筛查扩展至包括更多超声标志物可大幅提高染色体异常检测的敏感性并降低FPRs。这种筛查策略在针对中国人群的临床实践中是有效的
