Application of non-invasive prenatal testing for chromosome aneuploidy in advanced pregnancy
Objective To evaluate the value of non-invasive prenatal testing(NIPT)in the screen-ing of chromosomal aneuploidy in advanced pregnancy.Methods 3 263 elderly pregnancy patients who re-ceived the NIPT test at Huadu District Children's Health Care Hospital in Guangzhou City from February 2018 to May 2022 were selected as the elderly pregnancy group,and 7.732 young pregnancy patients who also re-ceived the NIPT test at our hospital during the same period to be included in the younger pregnancy group.The NIPT results and chromosome karyotype results,were analyzed and the detection efficiency of the two groups was compared.Results The high-risk rate of NIPT was found in 17 cases(0.52%),with high risk detection rates of T21,T18,T13 and SCA at 0.12%,0.06%,0.12%and 0.21%,respectively.There were 44 cases with a high risk of NIPT detected in the young pregnancy group(0.52%),and the high-risk detection rates for T21,T18,T13 and SCA were 0.13%,0.06%,0.04%and 0.28%,respectively.There was no significant dif-ference in the high-risk detection rates of NIPT between the two groups(χ2=0.000 6,P>0.05).The positive predictive values(PPV)for T21,T18,T13 and SCA were 100%,50%,25%and 83.33%,respectively,with a composite PPV of 68.75%(11/16).The PPV for T21,T18,T13 and SCA in the young pregnancy group was 90%,40%,0%and 31.82%,respectively,and the composite PPV was 50%(18/36).There was no significant difference in the composite PPV between the two groups(χ2=0.029 8,P>0.05).Conclusion The screening efficiency of NIPT for chromosomal aneuploidies in advanced pregnancy is similar.It can accu-rately detect T 21,and the detection efficiency of T 18 and T 13 needs to be improved,NIPT also plays an ef-fective screening role in SCA.
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