无创产前筛查高风险病例的临床特征及影响因素分析

Clinical features of non-invasive prenatal testing for high risk pregnancies and their influencing factors

目的评价深圳市无创产前基因检测(non-invasive prenatal testing,NIPT)在不同临床特征人群及不同目标疾病的高风险检出率,探讨影响NIPT高风险病例产前诊断、PPV及妊娠结局的可能因素。方法回顾性分析19895例2018年1月至2018年12月在南方医科大学附属深圳妇幼保健院行NIPT的孕妇临床资料,依据孕妇的临床特征分组对NIPT高风险检出率、NIPT发现的胎儿染色体异常病例的介入性产前诊断的选择、产前诊断结果及妊娠选择进行分类统计。结果共检出200例NIPT异常病例,孕妇年龄、血清学筛查、胎儿颈部透明层厚度(nuchal translucency,NT)、胎儿超声软指标(ultrasound soft markers,USM)均影响高风险检出率(均P<0.05)。154例高风险病例选择产前诊断(81.05%),NT影响产前诊断率(P<0.05)。21-三体、18-三体、13-三体、性染色体非整倍体及其他染色体异常的PPV分别为97.62%、66.67%、40.00%、68.25%、17.14%。异常结果类型、NT、USM影响PPV(均P<0.05)。异常结果类型及USM影响确诊病例的妊娠终止率(P<0.05)。拒绝染色体确诊病例的妊娠终止率与NIPT高风险类型、血清学筛查、NT、USM有关(均P<0.05)。结论NIPT不仅对常见的染色体非整倍体有较高的筛查效率,而且对性染色体异常及其它染色体异常也有潜在的价值。孕妇年龄、血清学筛查结果、NT及USM影响NIPT筛查高风险率。产前诊断的选择与胎儿NT有关。异常结果类型、NT、USM影响PPV。确诊及拒绝确诊病例的妊娠结局分别与异常结果类型、USM及NIPT高风险类型、血清学筛查、NT、USM有关。

Objective The study aimed to assess the clinical value of noninvasive prenatal testing in Shenzhen City and explore the factors influencing clinical value and parentst decisions.Methods The clinical data of19,895 pregnant women who underwent NIPT in Shenzhen Maternity and Child Healthcare Hospital Affiliated to Southern Medical University from January 2018 to December 2018 were retrospectively analyzed.According to pregnancies characteristics the groups were divide respectively and the NIPT high-risk detection rate,prenatal diagnostic determination,results of prenatal diagnosis,pregnancy determination were calculated under each classification.Results A total of 200 pregnancies(1.01%)abnormal results were detected by NIPT and the high-risk detection rates of NIPT according to maternal age,serum biochemistry screening,fetal nuchal translucency(NT),ultrasound soft markers(USM)are significantly different(P<0.05 respectively).154 pregnancies had underwent prenatal diagnosis,prenatal diagnosis rates of NIPT-high risk cases according to fetal NT were significantly different(P<0.05).The PPV for trisomy 21,trisomy 18,trisomy 13,sex chromosome aneuploidies(SCA),and other chromosome aneuploidy was 97.62%,66.67%,40.00%,68.25%and 7.14%respectively.PPVs of NIPT according to types of abnormal results,fetal NT,USM were remarkably different(P<0.05).The pregnancy termination rates of karyotyping results were consistent with NIPT according to types of abnormal results and USM are significantly different(P<0.05).The pregnancy termination rates of cases without karyotype results according to types of NIPT high risk,serum biochemistry screening,NT and USM were significantly different(P<0.05).Conclusions Our data have potential significance in demonstrating the value of NIPT profiling not only for common whole chromosome aneuploidies but also for SCA and other chromosome aneuploidy.A significant correlation was found between the high-risk detection rates of NIPT and maternal age,serum biochemistry screening,fetal NT and USM.Prenatal diagnosis rates of NIPT-high risk cases were associated with fetal NT.The PPVs of NIPT according to types of abnormal results,fetal NT,USM are significantly different.Pregnant outcome of cases with karyotyping results consistent with NIPT and without karyotype results are related to types of abnormal results,USM and ypes of NIPT high risk,serum biochemistry screening,NT and USM respectively.