超声测量胎儿颈部透明带对产前诊断胎儿染色体异常和畸形的价值

Ultrasonometry of nuchal translucency in prenatal diagnosis of fetal chromosomal abnormality and malformation

目的评价胎儿颈部透明带(NT)值对产前诊断胎儿染色体异常和畸形的价值。方法 3016例单胎孕妇在孕10～14周之间作NT测量,并在孕中期作彩超检查胎儿发育情况。NT≥3mm或胎儿异常者均于16周后作胎儿染色体核型分析,并追踪妊娠结局。结果 3016例胎儿中,NT<3mm、NT≥3mm者分别为2913例(96.58%)、103例(3.42%)。在NT<3mm胎儿中,发生染色体异常3例,严重畸形21例,胎死宫内6例,流产72例;在NT≥3mm胎儿中,发生染色体异常6例,严重畸形13例,胎死宫内3例,流产12例;两组比较差异有统计学意义(P<0.01)。结论 NT增厚预示着胎儿发生染色体异常、畸形、死胎及流产风险增加。

Objective To evaluate the value of nuchal translucency （NT） in prenatal diagnosis of fetal chromosomal abnormality and malformation. Methods Fetal NT and development in 3 016 cases of singleton pregnancy were detected by CDFI system in 10~14 weeks and second trimester, respectively. Pregnancy outcomes of all women were followed up, and the fetuses with NT ≥3 mm and suspected abnormalities underwent fetal karyotype analysis in 16 weeks. Results There were 2 913 （96.58%） ones with NT 3 mm and 103 （3.42 %） with NT ≥ 3 mm in 3 016 fetuses. Chromosomal abnormality, severe malformation, intrauterine fetal death and abortion occurred in 3, 21, 6, and 72 cases in fetuses with NT 3 mm, and 6, 13, 3, and 12 in fetuses with NT ≥3 mm, respectively, and there existed statistical differences between both groups （P0.01）. Conclusion NT thickening may indicate the increased risk of fetal chromosomal abnormality, malformation, stillbirth and miscarriage.