首页|颈项透明层厚度在重型α地贫胎儿早孕期筛查中的预测价值

颈项透明层厚度在重型α地贫胎儿早孕期筛查中的预测价值

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目的 研究孕11~13+6 周胎儿颈项透明层厚度(NT)在预测早孕期重型α地中海贫血(简称α地贫)胎儿中的应用价值.方法 回顾性分析2017 年1 月至2022 年12 月在惠州市第一妇幼保健院行介入性产前诊断的974 例孕妇临床资料,且夫妻双方为同型α地贫基因携带者.根据胎儿产前α地贫基因检测结果分为对照组(正常胎儿)、静止型组(静止型胎儿)、轻型组(轻型胎儿)、中间型1 组(CS/QS中间型胎儿)、中间型2 组(其他中间型胎儿)和重型组(重型胎儿),应用超声技术测量胎儿头臀径(CRL)、颈项透明层厚度(NT),比较组间差异.通过构建受试者工作特征(ROC)曲线计算曲线下面积(AUC),确定NT预测重型α地贫的最佳截断值(cut-off值).结果 除了中间型1 组,重型组的NT中位数倍数(MOM)明显大于其他组,差异均有统计学意义(P<0.05),其余各组之间NT比较,差异无统计学意义(P>0.05).根据ROC曲线,NT最佳临界值为1.23 MOM,灵敏度为54.05%,特异度为80.67%.结论 NT可有效预测重型和非重型α地贫胎儿,确定的最佳截断值可为临床提供参考.
Predictive value of nuchal translucency for screening severe α-thalassemia in the first trimester pregnancy
Objective To study the application values of nuchal translucency(NT)in predicting severe α-thalassemia at 11~13+6 weeks of gestation.Methods Retrospective analysis of the clinical data of 974 pregnant women who underwent interventional prenatal diagnosis at Huizhou First Maternal and Child Health Care Hospital from January 2017 to December 2022,with both spouses who are the same type of α-thalassemia gene carriers.According to the results of prenatal α-thalassemia genetic test,all cases were divided into control group(normal fetus),silent group(silent fetus),mild group(mild fetus),moderate-1 α-thalassemia group(CS/QS intermediate fetus),moderate-2 α-thalassemia group(other intermediate fetus)and severe α-thalassemia group(severe fetus).The ultrasound technique was used to measure the crown-rump length(CRL)and NT to compare the difference between the groups.The area under the cure(AUC)was calculated and the optimal cut-off value for NT to predict severe α-thalassemia was determined by drawing the receiver operating characteristic(ROC)curve.Results Except for the moderate-1 group,the NT MOM in the severe group was significantly higher than those in the other groups,the difference was statistically significant(P<0.05).No significant differences were observed in NT MOM among the other groups except for the severe group(P>0.05).ROC curve analysis showed that the optimal cut-off value for NT to predict severe α-thalassemia was 1.23 MOM,and the sensitivity and specificity was 54.05%and 80.67%,respectively.Conclusion The NT in the first trimester pregnancy can effectively predict severe and non-severe α-thalassemia fetuses,and the optimal cut-off value can provide a clinical reference.

nuchal translucencyα-thalassemiaprenatal diagnosisultrasound examination

谢洋、陈剑虹、钟泽艳、陈迪娜、官志扬、王德刚

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524023 广东 湛江,广东医科大学

516000 广东 惠州,惠州市第一妇幼保健院医学遗传与产前诊断科

528403 广东 中山,中山市博爱医院产前诊断中心

颈项透明层厚度 α地中海贫血 产前诊断 超声检查

2022年广东省卫生健康适宜技术推广项目惠州市科技计划项目

3182021WC0106208

2024

中国计划生育和妇产科
中国医师协会 四川省医学情报研究所

中国计划生育和妇产科

CSTPCD
影响因子:1.116
ISSN:1674-4020
年,卷(期):2024.16(1)
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