颈项透明层联合无创DNA诊断在胎儿染色体非整倍体异常疾病中的应用价值  

Application of Nuchal translucency Combined with Noninvasive DNA Diagnosis in Fetal Chromosome Aneuploid Abnormal Diseases

作　　者：吴美妹 陈厚宏 欧阳小芬 艾红云 

机构地区：[1]阳江市妇幼保健院超声科,广东阳江529500 [2]广东省武警总队医院番禺院区特诊科,广东广州511430 [3]阳江市妇幼保健院产科,广东阳江529500

出　　处：《临床医学工程》2018年第2期141-142,共2页Clinical Medicine & Engineering

摘　　要：目的探讨胎儿颈项透明层(NT)联合无创DNA诊断在胎儿染色体非整倍体异常疾病中的应用价值。方法选取2012年9月至2017年4月期间于我院就诊的1 235例孕妇,分别采用NT、无创DNA和NT联合无创DNA进行诊断。分析比较三种方法的诊断价值。结果 NT检测显示患病胎儿的NT值为(2.95±0.26)mm,高于正常胎儿的(1.65±0.22)mm,差异有统计学意义(t=5.24,P<0.05);患病胎儿无创DNA诊断值为8.54~16.32,平均诊断值为12.87±1.87;无创DNA诊断中12例为21-三体,诊断值为8.54~11.48;6例为18-三体,诊断值为12.48~16.32;7例为13-三体,诊断值为10.83~14.35;6例为性染色体异常,诊断值为11.40~13.76。联合诊断的敏感性、特异性、阳性预测值、阴性预测值、有效性均为100.00%,略高于无创DNA,高于单独NT诊断的敏感性、阳性预测值。结论胎儿染色体异常能引起NT明显增厚,在此基础上联合无创DNA诊断,能明显提高胎儿产前染色体非整倍体异常疾病的诊断效果。Objective To explore the application value of nuchal translucency （NT） combined with noninvasive DNA diagnosis in fetal chromosomal aneuploidy fetal disease. Methods 1 235 cases of pregnant women from September 2012 to April 2017 in our hospital were diagnosed with NT and noninvasive DNA. The diagnostic value of NT, noninvasive DNA, and NT combined with noninvasive DNA were analyzed and compared. Results The NT value of the normal fetus was （1.65 ± 0.22） ram, significantly lower than （2.95± 0.26） mm of fetus with aneuploid abnormal disease （P〈0.05）. The diagnostic value of noninvasive DNA was 8.54 - 16.32, with the average diagnostic value of 12.87 ± 1.87; Noninvasive DNA diagnosis found that 12 cases were trisomy 21, with the diagnostic value of 8.54 - 11.48; 6 cases were trisomy 18, with the diagnostic value of 12.48 - 16.32; 7 cases were trisomy 13, with the diagnostic value of 10.83 - 14.35; 6 cases were abnormal sex chromosome, with the diagnostic value of 11.40 - 13.76. The sensitivity, specificity, positive predictive value, negative predictive value and effectiveness of the combined diagnosis were all 100.00%, slightly higher than those of noninvasive DNA, and the sensitivity and positive predictive value of the combined diagnosis were significantly higher than those of NT diagnosis. Conclusions Fetal chromosomal abnormalities can cause NT to be thickened. NT combined with noninvasive DNA diagnosis can significantly improve the diagnosis effect of prenatal chromosomal aneuploidy abnormalities.

关 键 词：颈项透明层 无创DNA 胎儿 染色体非整倍体异常 

分 类 号：R714.55[医药卫生—妇产科学]