摘要
目的探讨妊娠中期出生缺陷的发病情况、产前筛查及诊断现状。方法 2009年1月~2016年1月,在陆军总医院妇产科住院的孕妇中,于孕14~27^(+6)周因胎儿出生缺陷引产的孕妇共83例,其中胎儿染色体异常22例,超声检查提示胎儿畸形61例。妊娠早期胎儿颈项透明层(nuchal translucency,NT)异常、妊娠中期血清学筛查高危或临界风险、孕20~24周超声软指标异常及高龄的孕妇,均建议于妊娠中期行羊膜腔穿刺及染色体核型分析;部分孕妇拒绝行羊膜腔穿刺检查,行产前无创DNA检测。采用χ~2检验进行统计分析。结果 83例出生缺陷中,单发畸形75例,多发畸形8例。染色体异常的发生比例最高(26.5%,22/83);其次为心脏畸形,占18.1%(15/83);中枢神经系统畸形占13.3%(11/83);唇腭裂占10.8%(9/83)。胎儿染色体异常组的高龄孕妇比例高于其他畸形组[40.9%(9/22)与8.2%(5/61)],差异有统计学意义(P﹤0.05)。22例染色体异常病例中,16例经羊膜腔穿刺确诊,6例经无创DNA检测确诊;61例系统畸形均由妊娠早、中期超声确诊。结论妊娠中期发现的胎儿出生缺陷中,染色体异常、心脏畸形、神经系统畸形、唇腭裂较为常见;应重视产前筛查及产前诊断,特别是高龄孕妇,以及时发现出生缺陷。
Objective To discussion the incidence, prenatal screening and prenatal diagnosis of birth defects of fetus in the second trimester of pregnancy. Methods From January 2009 to January 2016, 83 cases of fetus of abortion induced by birth defects whose gestational age was 14 - 27^＋6 weeks, admitted to the Department of Gynaecology ＆ Obstetrics, PLA Army General Hospital, were included. There were 22 cases of chromosomal abnormalities. Ultrasound measurements revealed that 61 cases had fetal malformations. Amniocentesis and karyotype analysis were suggested for the women with abnormal of fetal nuchal translucency （NT） in the early pregnancy, high-risk or critical risk of serological screening in the second trimester of pregnancy, and abnormal of ultrasonographic soft markers of 20 - 24 gestational weeks and elderly. Prenatal non-invasive DNA testing was performed for the women who refused the inspection of amniocentesis. Statistical analysis was performed by X^2 test. Results Among the 83 cases of birth defects, 75 cases were single malformation, 8 cases were multiple malformations. The top four fetal anomalies rates were chromosomal abnormalities （26.5%, 22/83）, cardiac malformations （18.1%, 15/83）, neurological malformations （13.3%, 11/83） and cleft lip and palate （10.8%, 9/83）. The proportion of older women of chromosome abnormality group was higher than that of other malformation group[40.9%（9-22） vs 8.2%（5/61）] , and there was statistically significant （P 〈 0.05）. Among the 22 cases of chromosomal abnormality, 16 cases were diagnosed by amniocentesis and 6 cases were diagnosed by ultrasound. 61 cases of system abnormalities were all diagnosed by ultrasound of first and second trimester of pregnancy.Conclusions Among the fetus of birth defects detected during the second trimester of pregnancy, chromosomal abnormalities, cardiac malformations, neurological malformations and cleft lip and palate are more common. Prenatal screening and prenatal diagnosis should be emphasized especially for the older women so as to timely detect birth defects.
作者
李旭红
尚丽新
LI Xu-bong;SHANG Li-xin(Department of Gynaecology ＆ Obstetrics, PLA Army General Hospital Beijing 100700, China)
出处
《发育医学电子杂志》
2017年第4期244-247,共4页
Journal of Developmental Medicine (Electronic Version)
基金
卫生部医药卫生科技发展研究中心项目(W2013GJ01)
关键词
中期妊娠
Hj生缺陷
产前筛查
产前诊断
Mid-pregnancy
Birth defects
Prenatal screening
Prenatal diagnosis
