A study on non-invasive prenatal screening for the detection of aneuploidy

Objectives: To explore the feasibility of clinical application of non-invasive prenatal screening to detect aneuploidy diseases.

Material and methods: A total of 14,574 singleton pregnant women who underwent Non-invasive prenatal testing (NIPT) in the Southern Hospital from 2015 to June 2017 were selected, and 6471 pregnant women with twin pregnancy who underwent NIPT in the laboratory of Bei Rui He Kang Southern Hospital from June 2016 to October 2017 were included in this study. We analyzed NIPT screening efficiency (sensitivity, specificity) in twin pregnancies and singleton pregnancies, compared the positive detection rate of NIPT in patients with or without clinical symptoms. All NIPT high-risk results were validated by karyotyping, which were further verified by the follow-up physical examination of the neonatal.

Results: A total of 68 cases of twin pregnancy abnormalities were detected by NIPT, including 18 cases of trisomy 21, 6 cases of trisomy 18, 1 case of trisomy 13, 39 cases of Spinocerebellar ataxias (SCAs), and 4 cases of other chromosomal abnormalities. The sensitivity for trisomy 21, 18, and 13 and sex chromosome abnormality was 100%; the specificity for trisomy 21, 18, and 13 and sex chromosome abnormality was 99.97%, 99.95%, 99.97%, and 99.91% respectively. The screening efficiency was similar to that of singleton pregnancy, indicating that the NIPT technology in our laboratory for screening for aneuploidy diseases in twin pregnancy has reached the accuracy level of singleton pregnancy screening. There was a statistical difference between the risk group and the non-risk group in pregnant women with singleton pregnancy. The screening efficiency of NIPT was higher in pregnant women in the risk group, which implies that the clinical application of NIPT is inclined to detect high-risk group.

Conclusions: Non-invasive prenatal testing (NIPT) is a rapid and safe screening method with high efficiency. Non-invasive prenatal testing (NIPT) is used for the screening of aneuploidy in twin pregnancy. The efficiency is similar to that of singleton pregnancy, indicating the feasibility of clinical application. However, the efficiency of NIPT screening tends to favor the detection in high-risk groups.