妊娠早期单胎NT≥2.5mm孕妇侵入性产前诊断及预后分析  

Invasive Prenatal Diagnosis and Prognosis of Women in Early Singleton Pregnancies with NT ≥ 2. 5mm

作　　者：唐永红[1] 党彩玲[1] 阳春芳 Tang Yonghong;Dang Cailing;Yang Chunfang(Yibin Second People′s Hospital,Yibin,Sichuan 644000,China)

机构地区：[1]宜宾市第二人民医院产前诊断科超声诊断科

出　　处：《四川医学》2019年第6期580-583,共4页Sichuan Medical Journal

摘　　要：目的随访分析妊娠11~13周且颈项透明层(NT)≥2.5mm,并行介入性产前诊断病例,了解NT变厚胎儿期产前诊断与妊娠结局状况,为患者诊疗提供一些借鉴。方法选取2012年9月至2016年9月间在本院产检妊娠期中进行介入性产前诊断患者270例,依据患者NT厚度分成5组,分别为研究1组(78例,NT在2.5~2.9mm),并经前期染色体非整倍体联合筛查又分成低风险组(44例)与高风险组(34例),研究2组(72例,NT在3.0~3.4mm),研究3组(50例,NT在3.5~4.4mm),研究4组(50例,NT≥4.5mm),研究5组(20例,为颈部水囊瘤),分析其染色体核型、超声检测及妊娠结局状况。结果270例孕妇中,198例胎儿染色体正常,占比73.33%,72例染色体异常,占比26.67%。5组患者在染色体异常、结构畸形及严重心脏结构畸形发生率方面差异均有统计学意义(P<0.05),伴随NT变厚程度增大其发生率逐渐上升。引产共102例,6例为社会因素,14例为重型α-地中海贫血,82例为严重结构畸形或者染色体异常;死胎共3例,1例原因未明,1例为脐带扭转,1例为18三体综合征。结论NT变厚和重型α地中海贫血、严重心脏畸形及染色体异常有联系,伴随NT数值增大,胎儿出现心脏疾病、结构异常及染色体异常概率逐渐增大。Objective We followed up and analyzed the cases who were in 11 to 13-week gestation with nuchal translucency(NT)≥2.5mm,and underwent invasive prenatal diagnosis,to understand the prenatal diagnosis and pregnancy outcome of NT thickening fetus,in order to provide some reference for the diagnosis and treatment of patients. Methods We enrolled 270 cases who underwent invasive prenatal examination in our hospital during September 2012 to September 2016,and divided them into 5 groups according to the NT thickness,respectively Group 1(78 cases,NT in 2.5~2.9 mm),which was further divided into low risk group(44 cases)and high risk group(34 cases)according to the combination screening of chromosome aneuploidy,Group 2(72 cases,NT in 3.0~3.4 mm),Group 3(50 cases,NT in 3.5~4.4 mm),Group 4(50 cases,NT 4.5 mm or higher),and Group 5(20 cases),then analyzed the karyotype,ultrasonography and pregnancy outcomes. Results Among 270 pregnant women,198(73.33%)had normal chromosome,and 72(26.67%)had abnormal chromosome.There were statistically significant differences in the incidence of chromosomal abnormalities,structural abnormalities and severe cardiac structural abnormalities among the 5 groups( P <0.05),and the incidence gradually increased with the increase of NT thickness.There were 102 cases of induced labor,6 for social factors,14 for severe alpha-thalassemia,and 82 for severe structural abnormalities or chromosomal abnormalities.There were 3 cases of stillbirth,1 for unknown cause,1 for torsion of umbilical cord,1 for 18-trisomy syndrome. Conclusion NT thickening is associated with severe alpha-thalassemia,severe heart malformation and chromosomal abnormalities.With the increase of NT value,the probability of fetal heart disease,structural abnormalities and chromosomal abnormalities increases gradually.

关 键 词：颈项透明层 产前诊断 染色体异常 妊娠结局 

分 类 号：R714.431[医药卫生—妇产科学]