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目的探讨胎儿颈部透明带(NT)增厚对产前诊断的价值以及目前存在的问题。方法 2008年1月至2010年12月间在北京市海淀区妇幼保健院产前筛查门诊常规产检的单胎孕妇,在孕11～13+6周测量胎儿颈部透明带厚度,NT≥3mm视为异常,收集异常病例115例,随访至妊娠结束。结果在115例NT增厚的病例中,正常足月分娩54例,自然流产2例,医疗性中期引产59例。在54例正常分娩者中,NT值3.0～4.0mm 43例(79.63%),4.1～5.0mm 9例(16.67%),5.1～6.0mm 1例(1.85%),>6.0mm 1例(1.85%)。在115例NT增厚的病例中,单纯NT增厚者94例,产前诊断35例,产前诊断率37.23%(其中直接产前诊断30例,另有行血清学唐氏筛查高危而后行产前诊断者5例);同时合并其他器官异常者21例,其中心脏畸形6例(室间隔缺损2例,单心房2例,完全性心内膜垫缺损2例),器官积液6例,腹裂3例,单脐动脉2例,多发畸形4例。其中7例行产前诊断,产前诊断率33.33%,其他14例直接中期引产终止妊娠。42例产前诊断的病例中染色体正常25例(59.52%),染色体异常17例(40.48%),其中21-三体综合征11例,18-三体综合征4例,Turner综合征2例,21-三体综合征异常占64.71%。结论 NT增厚对于胎儿染色体疾病有重要的诊断价值,NT增厚提示胎儿畸形、流产、死胎的风险增加。NT的测量、后续诊断问题需要进一步规范,提高孕妇的依从性和产前诊断率。设立固定的NT切割值对于临床诊断和咨询是有意义的。
Objective To investigate the value of prenatal diagnosis of zona pellucida (NT) thickening in fetal neck and its current problems. Methods From January 2008 to December 2010, a single pregnant woman of prenatal screening clinic in Haidian District Maternal and Child Health Hospital of Beijing Municipality routinely measured the thickness of the fetal cervical zona pellucida between 11 and 13 + 6 weeks of gestation, with NT≥3mm As an abnormality, 115 cases of abnormal cases were collected and followed up until the end of pregnancy. Results In 115 cases of NT thickened cases, 54 cases of normal full-term labor, spontaneous abortion in 2 cases, medical mid-term induction of labor in 59 cases. In 54 cases of normal delivery, NT value was 3.0 ~ 4.0mm in 43 cases (79.63%), 4.1 ~ 5.0mm in 9 cases (16.67%), 5.1 ~ 6.0mm in 1 case %). In 115 cases of NT thickened cases, 94 cases of simple NT thickening, 35 cases of prenatal diagnosis, prenatal diagnosis rate of 37.23% (including direct prenatal diagnosis of 30 cases, another line of Down’s screening serological risk and then 5 cases were diagnosed as prenatal diagnosis), 21 cases with abnormalities of other organs, including 6 cases of cardiac malformation (2 cases of ventricular septal defect, 2 cases of single atrial and 2 cases of complete endocardial cushion), 6 Cases, abdominal cracked in 3 cases, single umbilical artery in 2 cases, multiple deformities in 4 cases. Among them, 7 cases were diagnosed prenatally, the rate of prenatal diagnosis was 33.33%, and the other 14 cases were terminated by direct interim induction. Among the 42 prenatal diagnoses, 25 (59.52%) had normal chromosomes, 17 (40.48%) had chromosomal abnormalities, including 11 cases of trisomy 21, 4 cases of trisomy 18 and 2 cases of Turner’s syndrome , 21-trisomy syndrome accounted for 64.71% of anomalies. Conclusion NT thickening has important diagnostic value for fetal chromosomal diseases. NT thickening suggests an increased risk of fetal malformation, miscarriage and stillbirth. NT measurement, follow-up diagnostic issues need to be further standardized to improve the compliance of pregnant women and prenatal diagnosis. Establishing a fixed NT cut value makes sense for clinical diagnosis and counseling.