摘要
目的:分析超声联合遗传学检测诊断胎儿心脏畸形效果。方法:将2020年1月-2023年5月在淮安市妇幼保健院就诊的高危孕妇339例作为研究对象,均采用心脏超声方法和染色体检查方法分析胎儿的心脏发育情况。任一种方法结果异常则诊断异常。跟踪随访孕妇和胎儿,记录其预后情况。将尸检和出生后有缺陷的结果作为诊断金标准。结果:超声检查339例高危孕妇,发现胎儿心脏发育异常111例,占比32.7%,异常前3位分别是室间隔缺损(9.7%)、永存左上腔静脉(7.1%)和右锁骨下动脉迷走(5.3%);采用羊膜腔穿刺术对339例染色体数目和结构检查发现,胎儿染色体数目或者结构发生异常36例,占比10.6%,其中数目异常32例(9.4%),结构异常4例(1.2%),其中异常最多的分别是21-三体、13-三体和18-三体。超声方法诊断心脏发育异常的111例胎儿中,染色体检查异常28例;超声检查心脏发育正常的228例胎儿中,染色体检查异常8例(P<0.05)。与随访追踪结果金标准对比,诊断胎儿心脏异常,超声检查的灵敏度为77.8%,特异度为72.6%;染色体检查的灵敏度为25.2%,特异度为96.5%;二者联合检查的灵敏度为93.1%,特异度为97.3%,两种方法联合检查胎儿心脏发育异常的诊断价值更高。结论:采用超声联合遗传学检测对胎儿心脏畸形诊断具有较高的特异性和灵敏度,具有较高的临床应用潜能。
Objective:To analyze the clinical effect of ultrasound combined with chromosomal examination for diagnosing the fetal cardiac malformations.Methods:339pregnant women with high-risk factors who diagnosed in hospital between January 2020and May 2023were taken as the study subjects,and the fetal cardiac development of these women were analyzed by the cardiac ultrasound and chromosome examination.The fetal cardiac abnormality was diagnosed by the abnormal result of the cardiac ultrasound or the chromosomal examination.The pregnant women and their fetuses were followed up and their prognosis was recorded.The results of the fetuses with defects by autopsy and by postnatal findings were used as the gold standard for diagnosing the fetal cardiac malformations in this study.Results:339high-risk pregnant women were examined by the fetal cardiac ultrasound,and there were 111(32.7%)cases with fetal cardiac abnormalities.The top three fetal cardiac abnormalities were ventricular septal defect(9.7%),persistent left superior vena cava(7.1%)and aberrant right subclavian artery(5.3%).The number and structure of fetal chromosomes in 339women were examined by amniocentesis and 36(10.6%)fetuses with abnormal chromosome number or structure,including 32(9.4%)cases with abnormal number and 4(1.2%)cases with abnormal structure.The most common chromosome abnormalities were trisomy 21,trisomy 13and trisomy 18.Among 111cases with fetal cardiac malformation diagnosed by ultrasound,28fetuses had abnormal chromosome.Among 228fetuses with normal cardiac development by ultrasound,8fetuses had chromosomal abnormalities(P<0.05).Based on those of the gold standard,the sensitivity and the specificity of the ultrasound for diagnosing the fetal cardiac abnormalities were 77.8%and 72.6%,and which of the chromosome examination were 25.2%and 96.5%.The sensitivity and the specificity of the combined detections of the ultrasound and the chromosome examination for diagnosing the fetal cardiac abnormalities were 93.1%and 97.3%.The combined detections of the ultrasound and the chromosome examination for the fetal cardiac abnormalities had higher diagnostic value.Conclusion:The combined detections of the ultrasound and the chromosome examination for diagnosing the fetal cardiac abnormalities has higher sensitivity and specificity,which has higher clinical application value.
作者
尹多
盛文伟
刘月芳
金鑫
YIN Duo;SHENG Wenwei;LIU Yuefang;JIN Xin(Huai'an First Hospital Affiliated to Nanjing Medical University,Huai'an,Jiangsu Province,223000;Huai'an Maternal and Child Health Care Hospital,Huai'an,Jiangsu Province)
出处
《中国计划生育学杂志》
2024年第5期1135-1139,共5页
Chinese Journal of Family Planning
基金
淮安市自然科学研究计划项目(HAB202217)。
关键词
胎儿心脏畸形
超声检查
染色体
灵敏度
特异度
Fetal cardiac malformations
Ultrasound
Chromosome
Sensitivity
Specificity
