超声联合染色体检测在诊断胎儿心脏发育异常中的价值

Value of combined ultrasound and chromosome testing in diagnosing fetal heart development abnormalities

目的本研究旨在探讨超声联合染色体检测对于诊断胎儿心脏发育异常的临床价值。方法前瞻性选取2022年1月至2022年12月在上海交通大学医学院附属国际和平妇幼保健院进行建档产检的孕妇进行超声检查,将高度疑似胎儿发育异常的96例孕妇纳入研究中。均接受染色体检测,以分娩后新生儿结局或引产诊断结果为金标准,对超声及染色体检测的诊断价值进行探究。结果对纳入研究的96例孕妇进行追踪随访(至分娩完成新生儿接受超声诊断或引产后接受病理诊断止),共追踪到29例胎儿心脏发育表现正常,67例胎儿心脏发育异常。经超声检查,32例产妇未见胎儿心脏发育异常,其他64例诊出胎儿心脏发育异常;经染色体检查,共诊出正常染色体36例,染色体异常64例。以分娩后新生儿结局或引产病理诊断结果为诊断金标准,超声检查真阳性(心脏发育异常)59例,真阴性(心脏发育异常)24例,超声联合染色体检测真阳性(心脏发育异常)63例,真阴性(心脏发育异常)23例。超声联合染色体检测诊断胎儿心脏发育异常的灵敏度、准确率分别为94.03%、89.58%,分别高于单独的超声检查(88.06%、86.46%),AUC值(95%CI)为0.854(0.762~0.946),优于单独的超声检查[0.878(0.773~0.960)]。结论超声联合染色体检测在诊断胎儿心脏发育异常方面具有较高的诊断价值和临床应用前景。相较于单独的超声检查,超声联合染色体检测展现出更高的灵敏度以及更优的准确率,可作为诊断胎儿心脏发育异常的有力工具。

Objective This study aims to explore the clinical value of combined ultrasound and chromosome testing in diagnosing fetal heart development abnormalities.Methods The study was conducted from January 2022 to December 2022.Pregnant women undergoing prenatal examinations at International Peace Maternal and Child Health Hospital Affiliated to Shanghai Jiaotong University were screened.Ultrasound examinations were performed,and 96 pregnant women with a high suspicion of fetal development abnormalities were included in the study.All participants underwent chromosome testing,and the diagnostic value of ultrasound and chromosome testing was investigated using the outcomes of newborns after delivery or diagnostic results following induced labor as the gold standard.Results Follow-up was conducted for the 96 pregnant women included in the study,until either newborns received ultrasound diagnoses or diagnostic results were obtained after induced labor.Among them,29 cases showed normal fetal heart development,while 67 cases exhibited fetal heart development abnormalities.Based on ultrasound examination,32 pregnant women did not show any signs of fetal heart development abnormalities,while the remaining 64 cases were diagnosed with such abnormalities.Chromosome testing revealed 36 cases with normal chromosomes and 64 cases with chromosome abnormalities.Using the outcomes of newborns after delivery or induced labor pathology as the diagnostic gold standard,ultrasound detected 59 true positives(fetal heart development abnormalities)and 24 true negatives(normal heart development),while combined ultrasound and chromosome testing detected 63 true positives and 23 true negatives.The sensitivity and accuracy of ultrasound combined with chromosome detection in diagnosing fetal cardiac developmental abnormalities were 94.03%and 89.58%,respectively,which were higher than those of ultrasound alone(88.06%and 86.46%),the AUC value(95%CI)was 0.854(0.762-0.946),which was better than that of ultrasound alone[0.878(0.773-0.960)].Conclusion Combined ultrasound and chromosome testing holds substantial diagnostic value and clinical potential in diagnosing fetal heart development abnormalities.Compared to ultrasound alone,combined testing demonstrates higher sensitivity,and superior accuracy,making it a powerful adjunct tool for diagnosing fetal heart development abnormalities.