【摘要】 目的探讨中晚孕期胎儿异常结构筛查临床价值。方法选取2016年1月至2019年1月重庆市北碚区中医院诊治的102例经产前系统超声检查确诊为胎儿结构异常的孕妇作为研究对象。对这102例孕妇行侵入性产前诊断,分析异常染色体核型,对异常染色体引产和活产发生率进行对比。结果 102例孕妇经超声检查,77例出现严重异常,其中染色体异常25例,占比为32.5%;微小异常25例,染色体异常0例,占比0,严重异常与微小异常差异具有统计学意义(P<0.05)。严重畸形、先天性心脏病、消化道异常、腹裂、短肢畸形、甲状腺肿瘤引产发生率高于活产发生率,差异具有统计学意义(P<0.05)。本研究均经心电图对染色体异常证实,35例多发畸形中,20例为心外畸形合并胎儿先天性心脏病,其中10例染色体异常,10例单发胎儿先天性心脏病异常中检出染色体异常3例;与其他非胎儿先天性心脏病异常比较,差异具有统计学意义(P<0.05)。结论在中晚孕期胎儿结构异常筛查过程中,产前超声检查对胎儿异常发育尤其是先天性心脏病,具有较高临床诊断价值,可为侵入性诊断提供有效理论依据。同时,染色体异常与胎儿先天性心脏病异常具有明显相关性,为患者临床筛查提供了有效理论依据。所以,在晚孕期胎儿结构异常诊断过程中,产前超声筛查应进一步推广和应用。更多还原

【Abstract】 Objective To investigate the value of fetal structural abnormalities screening in mid-late pregnancy. Methods A total of 102 pregnant women with fetal structural abnormalities diagnosed by prenatal system ultrasound from January 2016 to September 2019 were enrolled. Invasive prenatal diagnosis was performed to analyze abnormal chromosome karyotypes. The incidence of abnormal chromosome induction and live birth was compared. Results Of the 102 pregnant women, there were 77 cases of severe abnormalities, including 25 cases of chromosomal abnormalities, accounting for 32.5%, and 25 cases of minor abnormalities, including 0 cases of chromosomal abnormalities, accounting for 0, with statistically significant differences between severe and minor abnormalities(P<0.05). The incidences of severe malformation, congenital heart disease, digestive tract abnormalities, abdominal fissure, short limb deformity, thyroid tumor induced labor rate were higher than the incidences of live birth, with statistically significant differences(P<0.05). This study was confirmed by electrocardiogram on chromosomal abnormalities. Among the 35 cases of multiple malformations, 20 cases were extracardiac malformations with fetal congenital heart disease, of which 10 cases were chromosomal abnormalities, and 3 cases of chromosomal abnormalities were detected in the 10 cases of single fetal congenital heart disease. There was a statistically significant difference compared with other non-fetal congenital heart disease abnormalities(P<0.05). Conclusions In the process of fetal structural abnormality screening in the mid-late pregnancy, prenatal ultrasound examination has high clinical diagnostic value for abnormal fetal development, especially congenital heart disease, which can provide an effective theoretical basis for invasive diagnosis. Meanwhile, chromosomal abnormalities have obvious correlation with fetal congenital heart diseases, which provides an effective theoretical basis for the clinical screening. Therefore, prenatal ultrasound screening should be further promoted and applied for the diagnosis of fetal structural abnormalities during late pregnancy.更多还原