无创产前基因检测对低危孕妇胎儿染色体异常筛查的临床价值

Clinical Value of Non-Invasive Prenatal Testing on Screening Fetal Chromosomal Abnormalities in Low-Risk Pregnant Women

目的分析无创产前基因检测(non-invasive prenatal testing,NIPT)对低危孕妇胎儿染色体异常筛查的临床价值。方法回顾性分析2021年1—12月在茂名市妇幼保健院进行NIPT检查的2541例低危孕妇临床资料,依据孕龄、申请检查原因分组。评价NIPT筛查胎儿染色体异常的效能。结果孕早期阳性检出率为1.85%(10/542),孕中期阳性检出率为1.68%(22/1321),孕晚期阳性检出率为1.18%(8/678);自愿进行NIPT检查组阳性检出率为0.99%(8/811),血清学筛查单项指标或中位数倍数(multiple of median,MOM)值异常组阳性检出率为1.93%(22/1141),B超软指标异常组阳性检出率为1.68%(10/589);2541例孕妇中NIPT检查后提示有40例胎儿染色体异常,阳性检出率为1.63%(40/2541),经过羊膜腔穿刺染色体检查验证后证实有26例胎儿染色体异常,其中13-三体、18-三体、21-三体、其他常染色体非整倍体异常、性染色体、其他分别为1、4、6、5、6、4例,NIPT准确率分别为33.33%、80.00%、85.71%、83.33%、54.55%、50.00%,总准确率为65.00%。结论NIPT筛查低危孕妇中胎儿染色体异常准确率较高,具有较好的筛查效能,且为无创操作,可作为低危孕妇中胎儿染色体异常筛查的辅助检查手段。

Objective To analyze the clinical value of non-invasive prenatal testing(NIPT)on the screening of fetal chromosomal abnormalities in low-risk pregnant women.Methods The clinical data of 2541 low-risk pregnant women who underwent NIPT examination in Maoming Maternal and Child Health Hospital were retrospectively analyzed between January and December 2021.The pregnant women were grouped according to gestational age and reasons for applying for examination,and the efficiency of NIPT on screening fetal chromosomal abnormalities was evaluated.Results The positive detection rate was 1.85%(10/542)in the first trimester,1.68%(22/1321)in the second trimester and 1.18%(8/678)in the third trimester.The positive detection rate was 0.99%(8/811)in the voluntary NIPT group,1.93%(22/1141)in the abnormal single index or multiple of median(MOM)group and 1.68%(10/589)in abnormal B-ultrasound soft index group.There were 40 cases of fetal chromosomal abnormalities among 2541 pregnant women with the positive rate of NIPT of 1.63%(40/2541).After chromosome examination by amniocenesis,26 fetuses had chromosomal abnormalities,including 1 case of trisomy 13,4 cases of trisomy 18,6 cases of trisomy 21,5 cases of other autosomal aneuploidy abnormalities,6 cases of sex chromosome and 4 cases of others respectively,with the accuracy rates of NIPT of 33.33%,80.00%,85.71%,83.33%,54.55%and 50.00%and the total accuracy of 65.00%.Conclusion NIPT has high accuracy rate and good screening efficiency on screening fetal chromosomal abnormalities in low-risk pregnant women.It is a non-invasive procedure and can be used as an auxiliary examination method for screening fetal chromosomal abnormalities in low-risk pregnant women.