NT超声检查在早孕期胎儿筛查中的应用价值

The application value of ultrasound in screening abnormality in fetal NT in early pregnancy

目的:探讨胎儿颈项透明层厚度(nuchal translucency,NT)超声检查在早孕期胎儿筛查中的应用价值。方法:选取接受早孕期胎儿筛查的孕妇1 008例(胎儿1 031例)作为研究对象,对胎儿NT进行超声检查,并对NT增厚的患者进行染色体核型分析。对NT增厚但染色体核型分析正常的患者进行超声随访,观察胎儿结局。结果:(1)1 008例孕妇中,974例孕妇成功进行了NT检查,其中NT异常增厚的胎儿共23例,颈项透明层厚度为(4.3±1.3)mm,占2.3%;(2)正常胎儿的颈项透明层厚度为(1.7±0.8)mm,异常胎儿的颈项透明层厚度为(3.5±1.1)mm,高于正常胎儿(P<0.05);(3)23例NT异常增厚的胎儿中,有7例胎儿染色体核型异常,包括4例21-三体综合征、2例18-三体综合征和1例13-三体综合征,其余16例经超声随诊检查,有14例无异常现象,有1例水囊状淋巴管瘤和1例法洛四联症。结论:在早孕期进行胎儿NT超声检查,能有效筛查出染色体核型异常的高危胎儿,具有较高的临床应用价值。

Objective：to discuss the application value of ultrasound in screening abnormality in fetal nuchal translucency（ NT） in ear-ly pregnancy. Methods：1 008 pregnant women （1 031 fetuses） who received the screening in early pregnancy were selected;fetal NT was examined by ultrasound ;karyotype analysis was made about the patients with NT thickening;the patients with NT thickening but normal karyotype analysis were followed up. Results：（1）. Among the 1008 pregnant women, 974 successfully received NT examination, 23 of whom were diagnosed as NT abnormal thickening with thickness being（4. 3 ± 1. 3）mm, accounting for 2. 3%. （2）. Thickness of normal fetal NT is（1. 7 ± 0. 8）mm, while that of abnormal fetal NT is（3. 5 ± 1. 1）mm, the difference between which being significant （ P 〈0. 05）. （3）. Among the 23 fetuses with NT thickness, 7 fetuses were abnormal in the karyotype, including 4 with trisomy 21 syndrome, 2 with trisomy 18 syndrome and 1 with trisomy 13 syndrome and among the rest 16 fetuses who were examined by ultrasound, 14 fetuses were normal, with 1 fetus with water-cystic lymphangioma and tetralogy of Fallot respectively. Conclusion：Ultrasound examination of fetal NT in early pregnancy can effectively screen out the fetuses at risk of abnormal karyotype, which is very valuable in clinical application.