颈项透明层增厚胎儿的产前诊断及预后分析  

Fetal Prenatal Diagnosis and Pregnancy Outcome with Increased Nuchal Translucency

作　　者：周祎[1] 鲁云涯[1] 陈涌珍[1] 黄林环[1] 黄轩[1] 商梅娇[1] 陈宝江[1] 方群[1] 

机构地区：[1]中山大学附属第一医院妇产科胎儿医学中心,广东广州510080

出　　处：《中山大学学报（医学科学版）》2013年第6期888-893,共6页Journal of Sun Yat-Sen University:Medical Sciences

基　　金：广东省国际合作项目(2010B050700006);广东省科技基础条件建设项目(2011B060300011)

摘　　要：[目的]研究颈项透明层（NT）增厚与胎儿染色体异常、宫内TORCH感染、严重结构畸形和其他严重异常的关系,了解其在评估胎儿预后中的价值.[方法]对135例妊娠早期（11～13＋6周）NT≥2.5 mm且行产前诊断的单胎病例进行回顾性分析,统计胎儿染色体核型、TORCH-DNA/RNA、地中海贫血基因检测结果,随访胎儿超声筛查结构异常情况及妊娠结局.按NT厚度将其依次分为5组,2.5～2.9、3.0～3.4、3.5～4.4、≥4.5 mm为第1～4组,颈部水囊瘤为第5组.采用Fisher确切概率法分析率的差异,采用Kruskal-Wallis检验比较几种常见染色体异常胎儿的NT值是否有差异.[结果]①135例NT增厚胎儿中,染色体核型异常36例（26.7％）;结构异常32例（23.7％）,其中严重心脏畸形11例（8.1％）,重型α地中海贫血7例（5.2％）,未发现TORCH宫内感染.妊娠结局：随访率97％（131/135）,产前诊断术后无自然流产及宫内感染,死胎3例,引产51例,活产77例.②五组NT增厚胎儿中,染色体异常发生率分别为10.3％（4/39）、13.9％（5/36）、28％（7/25）、56％（14/25）及60％（6/10）,严重心脏畸形发生率分别为0％（0/39）、5.6％（2/36）、8％（2/25）、20％ （5/25）及20％（2/10）,结构异常的发生率分别为7.7％（3/39）、19.4％（7/36）、24％（6/25）、44％（11/25）和50％（5/10）,检出重型α地中海贫血例数分别为1例、4例、1例、1例和0例.五组胎儿染色体异常、结构异常及心脏畸形的发生率差异均有统计学意义（分别P＜ 0.001、P=0.003及P=0.014）,而且发生率均随NT增厚而升高.③39例NT临界增厚组（即第一组）进行早孕期染色体非整倍体联合筛查后高风险17例,低风险22例,经产前诊断确诊后高风险组发现4例染色体异常,低风险组未发现染色体异常.统计学分析发现NT临界增厚组染色体非整倍体联合筛查高风险和低风险组染色体异常发生率差异有统计�[Objective] To investigate the correlation between increased nuchal translucency （NT） thickness and fetal chromosomal abnormalities,TORCH infection,severe structure anomalies and other abnormalities,and its value in assessment of fetal prognosis.[Methods] One hundred and thirty-five singleton fetuses with NT ≥ 2.5 mm in the first trimester （11 ～ 13 ＋6 week） which had invasive prenatal test for fetal chromosome,TORCH-DNA/RNA,and genetic tests were retrospectively analyzed.They were divided into 5 groups according to the nuchal thickness,2.5-2.9,3.0-3.4,3.5-4.4,and ≥ 4.5 mm as 1st to 4th group,and cystic hygroma as 5th group.The incidence among groups were analyzed by Fisher＇s exact test.Kruskal-Wallis test was used to compare diversities of nuchal thickness among the major chromosomal abnormalities.[Results] 1.Among the 135 singleton fetuses,36 were diagnosed as chromosomal abnormalities （26.7%）,32 with structure anomalies （23.7%）,of which 11 cases with severe cardiac anomalies （8.1%）,and 7 major α-thalassemias （5.2%）.None of TORCH intrauterine infection was detected.Pregnancy outcomes：the followup was achieved in 97% （131/135） cases.There were 3 fetal demise,51 terminations of pregnancy and 77 live birth,without spontaneous abortions and congenital infections after invasive prenatal test.2.The rates of chromosomal abnormalities were 10.3% （4/39）,13.9%（5/36）,28%（7/25）,56%（14/25）,and60%（6/10） among groups,respectively.The rates of severe cardiac anomalies were 0% （0/39）,5.6% （2/36）,8% （2/25）,20% （5/25）,and 20% （2/10）,and,the rates of structure anomalies were 7.7% （3/39）,19.4% （7/36）,24% （6/25）,44% （11/25） and 50% （5/10）,respectively.Also,the cases of major α thalassemias were one,four,one,one and none.The differences among the incidences of chromosomal abnormalities,structure anomalies and cardiac anomalies in five groups are statistically significant （P 〈 0.001,P =0.003,and P =0.014,respectively） and the inc

关 键 词：颈项透明层 非整倍体 心脏畸形 产前诊断 超声 

分 类 号：R71[医药卫生—妇产科学]