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A Novel Graphic-Aided Algorithm (gNIPT) Improves the Accuracy of Noninvasive Prenatal Testing
Qingwen Zhu1, Jing Wang1, Xiaoning Xu1
1Prenatal Screening and Diagnosis Center, Nantong Municipal Maternal and Child Health Hospital, Nantong, 226010 Jiangsu, China.
Biomed Research International
|August 11, 2020
Summary
A new graphic-aided algorithm (gNIPT) enhances Noninvasive Prenatal Testing (NIPT) accuracy by analyzing cell-free DNA. This method improves positive predictive value for fetal chromosomal aneuploidy detection, offering a more reliable NIPT analysis.
Area of Science:
- Genetics
- Molecular Biology
- Obstetrics
Background:
- Noninvasive Prenatal Testing (NIPT) uses cell-free DNA for fetal aneuploidy detection.
- The standard Z-test can be inaccurate when chromosomal gains and losses offset each other.
- Improved NIPT methods are needed for higher diagnostic accuracy.
Purpose of the Study:
- To introduce and evaluate a novel graphic-aided algorithm (gNIPT) for NIPT.
- To enhance the accuracy of NIPT by addressing limitations of the Z-test.
- To assess gNIPT's performance in detecting fetal chromosomal aneuploidies and copy number variations.
Main Methods:
- Developed a graphic-aided algorithm (gNIPT) analyzing cell-free DNA.
- gNIPT divides chromosomes into 2 Mb windows, calculating Z-scores and copy number variations.
- Compared gNIPT with standard NIPT (nNIPT) using data from 13,537 singleton pregnancies.
Main Results:
- gNIPT significantly improved overall positive predictive value (PPV) compared to nNIPT (88.14% vs. 68.00%).
- gNIPT showed improved PPV for Trisomy 21 (T21) detection (93.02% vs. 71.43%).
- gNIPT detected a false-negative Trisomy 18 (T18) case missed by nNIPT and identified a pathogenic copy number variation.
Conclusions:
- gNIPT offers a significant improvement in NIPT accuracy without additional experimental procedures.
- The algorithm effectively identifies chromosomal variations missed by standard Z-test calculations.
- gNIPT presents a viable solution for enhancing NIPT's diagnostic capabilities for fetal aneuploidies and CNVs.
