妊娠16-18周超声软指标与胎儿染色体异常的关系  

Relationship between sonographic markers and fetal chromosome abnormality during 16 -18 weeks of pregnancy

作　　者：南钰 刘宗谕 张剑[2] 杨瑞琦[1] 王芳[1] 于倩倩 范丽梅[1] Nan Yu;Liu Zongyu;Zhang Jian;Yang Ruiqi;Wang Fang;Yu Qianqian;Fan Limei(Department of Obstetrics and Gynecology of the Second Hospital of Jilin University,Changchun 130041,China)

机构地区：[1]吉林大学第二医院妇产科,长春130041 [2]吉林大学第一医院麻醉科 [3]吉林大学白求恩医学部

出　　处：《中华医学杂志》2018年第41期3320-3323,共4页National Medical Journal of China

基　　金：吉林省卫生技术创新项目（2016J042）;吉林省产业技术研究和开发项目（2017C058-5）;吉林省直卫生专项项目（2017）

摘　　要：目的分析探讨孕16-18周胎儿超声软指标阳性与染色体异常的关系，以提高侵入性产前诊断操作的阳性率，降低漏诊率。方法选取自2016年1月至2017年1月在吉林大学第二医院妇产科就诊，超声检查超声软指标阳性胎儿，共569例，失访25例，最终入组544例，为A组，合并致死性畸形的胎儿行引产，对继续妊娠者建议行无创DNA检查，结果高风险者建议行羊膜腔穿刺进行胎儿染色体核型分析，明确胎儿染色体为非整倍体的引产，其余继续妊娠者进行超声随访至胎儿出生后半年。随机选取544例孕16-18周检查无明显异常病例人组为B组，随访至胎儿出生后半年。结果A组544例胎儿中入组时发现7例合并致死性畸形行引产，其余537例中273例接受无创DNA检查，无创DNA结果高风险者10例，均行羊膜腔穿刺，结果均为染色体异常胎儿而行引产。超声随访至中孕期出现6例严重畸形引产，521例随访至胎儿出生后半年预后良好。B组544例中发现严重畸形患儿1例，单倍体胎儿1例。单倍体胎儿发生率A组为1．8％（10／544），B组为0．2％（1／544），两组比较差异有统计学意义（P〈0．05）。合并严重畸形发生率A组为2．4％（13／544），B组为0．2％（1／544），两组比较差异有统计学意义（P〈0．05）。结论胎儿16-18周超声软指标阳性者，提示染色体异常风险增高；胎儿16—18周超声软指标阳性时发生严重畸形的风险增加，但畸形不存在特异性。Objective To analysis of fetal ultrasound soft index positive cases during 16 - 18 weeks of pregnancy, and to explore the relationship with chromosomal abnormalities in order to increase the positive rate of invasive prenatal diagnosis and reduce the rate of missed diagnosis. Methods A total of 569 cases which were diagnosed with positive soft markers in the department of gynecology and obstetrics of the Second Hospital of Jilin University from Jan. 2016 to Jan. 2017 were studied by ultrasonography. Twenty-five cases were lost in follow-up and finally 544 cases were included as group A. Those fetuses who combined with other malformations were induced labor. Non-invasive DNA examination was recommended for continued pregnant women, and those pregnant women whose resuhs were high risk underwent the amniotie cavity puncture. When the fetal aneuploidy was confirmed, they chose induced labor. We followed the rest of those patients until postnatal half year. Randomly selected 544 cases during 16 - 18 weeks of pregnancy without obvious abnormalities into group B, followed up to half a year after birth. Results In group A, 7 of the 544 cases were combined with other severe malformation in the beginning, among the remaining 537 patients, 273 of them received non-invasive DNA examination. Ten cases were high risk results, all of them underwent the amniotic cavity puncture with the result of chromosome abnormality, and they chose induced labor. Six cases were found other malformation in the second trimester who chose induced labor, and the rest 521 cases followed until the fetuses was born after half year had a favorable prognosis. In group B, 1 cases of severe deformities and 1 cases of haploid fetuses were found in 544 fetuses. The incidence of haploid fetus in group A and group B were 1.8% and 0. 2%, respectively, with statistically significant （P 〈 0. 05）. The incidence of severe malformation in group A and group B were 2. 3% and 0. 2% , respectively, with statistically significant （P 〈 0. 05 ）. Conclusions

关 键 词：超声软指标 无创DNA 染色体异常 胎儿 

分 类 号：R714.53[医药卫生—妇产科学]