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Published on: August 25, 2019
Enhancing Non-Invasive Prenatal Testing: A Novel Approach to Improve 45,X Prediction Accuracy
Xiaoying Lin1, Cheng Huang1, Li Chen2
1Prenatal Diagnosis Center, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, China.
Objective:
Traditional non-invasive prenatal testing (NIPT) for sex chromosome aneuploidies (SCAs) has a higher risk of false positives, particularly for 45,X. This study introduces an innovative NIPT analysis pipeline to minimize false positives in 45,X screening.
Methods:
We included 39 cases from the NIPT records of 15,882 pregnancies, including 20 with 45,X and 19 controls, and performed standard NIPT and size-selection NIPT tests. Based on the two NIPT results, the Zs-score was used to determine aneuploidy status: > 3 indicated 45,X, and -3 to 3 suggested a negative result. We analyzed the change in the positive predictive value (PPV) of NIPT for 45,X.
Results:
By integrating data from two NIPT experiments and monitoring sex chromosome variations, the Zs of the control group ranged from -3 to 3, indicating no 45,X. In the NIPT-45,X group, 9 out of 20 cases had Zs > 3, whereas the remaining 11 cases had Zs between -3 and 3. The PPV of NIPT for 45,X improved from 25.00% (5/20) to 55.56% (5/9), and 73.33% (11/15) of the initial false positives were corrected by our method.
Conclusion:
Our advanced analysis process significantly improved the PPV of NIPT for 45,X and reduced the incidence of false positives.
