无创DNA检查在单项超声软指标异常胎儿染色体筛查中的临床意义

Clinical significance of noninvasive DNA test in fetal chromosome screening with single ultrasound soft markers abnormality

目的:探究无创DNA检查(non-invasive DNA,NIPT)在单项超声软指标(ultrasound soft index,USM)异常胎儿染色体筛查中的临床意义。方法:选取2022年1月至2023年8月于郑州四六〇医院进行NIPT的174例单项USM阳性孕妇进行回顾性研究,分析其USM及NIPT结果,以临床最终结果为“金标准”,分析NIPT诊断结果及诊断效能,进一步分析不同检查结果的妊娠结局情况。结果:174例单项USM异常孕妇中,NIPT提示161例低风险,13例高风险,提示高风险包括2例性染色体数目异常,18-三体、13-三体各1例,21-三体9例;核型分析检测提示9例21-三体,1例47、XYY,18-三体、13-三体各1例,其中1例NIPT提示性染色体数目异常,患者核型分析检测结果提示正常;NIPT诊断灵敏度为85.71%,准确度为98.28%,漏诊率为15.38%;NIPT提示161例低风险,另有1位NIPT提示高风险患者经核型分析结果显示其染色体未出现明显异常现象,共计162例,其中18例在其他医院分娩,4例患者失访,其他孕妇均在郑州四六〇医院妇产科行产检、分娩,随访结果显示新生儿无明显异常;NIPT提示14例高风险孕妇中,XYY染色体数目异常、核型正常孕妇选择足月分娩,21-三体、13-三体、18-三体核型异常孕妇均选择引产。结论:NIPT在单项USM异常孕妇中具有较高的诊断灵敏度、准确度,漏诊率相对较低,可为临床及时筛查单项USM异常孕妇胎儿异常,降低流产风险提供可靠依据。

Objective:To explore the clinical significance of non-invasive DNA test(NIPT)in the screening of fetal chromosomes with single ultrasound soft markers(USM).Methods:A retrospective study was conducted on 174 single USM-positive pregnant women who underwent NIPT in our hospital from January 2022 to August 2023.The USM and NIPT results were analyzed,and the final clinical results were taken as the“gold standard”to analyze the non-invasive DNA diagnostic results and diagnostic efficacy,and further analyze the pregnancy outcomes of different examination results.Results:Among 174 pregnant women with single abnormal USM,161 were low risk and 13 were high risk.The high risk indicated by NIPT included 2 cases with abnormal number of sex chromosomes,1 case with trisomy 18-13,and 9 cases with trisomy 21-21.Karyotype analysis showed 9 cases of trisomy 21 and 1 case of 47,XYY,trisomy 18 and trisomy 13,among which 1 case of abnormal NIPT suggestive chromosome number showed normal results.The diagnostic sensitivity of NIPT was 85.71%,the accuracy was 98.28%,and the missed diagnosis rate was 15.38%.NIPT indicated 161 cases of low risk,and another high risk patient indicated by NIPT showed no obvious abnormality of chromosome through karyotype analysis,a total of 162 cases,of which 18 cases gave birth in other hospitals,4 cases lost follow-up due to change of address,telephone number and other information,and other pregnant women underwent obstetric examination and delivery in the obstetrics and gynecology department of our hospital.The follow-up results showed that the newborn had no obvious abnormality.NIPT indicated that among 14 high-risk pregnant women,pregnant women with abnormal XYY chromosome number and normal karyotype chose to give birth to term,while pregnant women with abnormal karyotype 21-trisomy,13-trisomy and 18-trisomy all chose to induce labor.Conclusion:NIPT has high diagnostic sensitivity and accuracy in pregnant women with single abnormal USM,and the rate of missed diagnosis is relatively low,which can provide a reliable basis for clinical screening fetal abnormalities in pregnant women with single abnormal USM in time and reduce the risk of abortion.