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Clinical Potential of Expanded Noninvasive Prenatal Testing for Detection of Aneuploidies and Microdeletion/Microduplication Syndromes

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Abstract

Objective

We aimed to evaluate the clinical performance of expanded noninvasive prenatal testing (NIPT-Plus) for the detection of aneuploidies and microdeletion/microduplication syndromes.

Methods

A total of 7177 pregnant women were enrolled in the study from June 2020 to March 2022 at Xijing Hospital, China. Cases with NIPT-Plus-positive results were further confirmed by chromosomal karyotyping and a chromosomal microarray analysis.

Results

A total of 112 positive cases (1.56%) were identified by NIPT-Plus, including 60 chromosome aneuploidies and 52 microdeletion/microduplication syndromes. Ninety-five cases were validated by amniocentesis, and 57 were confirmed with true-positive results, comprising 18 trisomy 21, 4 trisomy 18, 1 trisomy 13, 17 sex chromosome aneuploidies, 1 other aneuploidy, and 16 microdeletion/microduplication syndromes. The positive predictive value of total chromosomal abnormalities was 60% (57/95). For trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies, other aneuploidies and microdeletion/microduplication syndromes, the sensitivity was all 100%, the specificity was 100, 99.986, 100, 99.888, 99.958, and 99.636%, and the positive predictive value was 100, 80, 100, 68, 25, and 38.10%, respectively. For all clinical characteristics, the abnormal maternal serum screening group was found to have the highest prevalence of chromosomal abnormalities (1.54%), and the ultrasound abnormality group presented the highest positive predictive value (73.33%).

Conclusions

NIPT-Plus has great potential for the detection of aneuploidies and microdeletion/microduplication syndromes owing to its high sensitivity, safety, and specificity, which greatly reduces unnecessary invasive procedures and the risk of miscarriage and allows informed maternal choice.

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Acknowledgements

The authors gratefully thank all pregnant women who provided the information and accepted the follow-up for the study.

Author information

Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Xijing Hospital, The Fourth Military Medical University, 127 West ChangLe Road, Xi’an, 710032, Shaanxi, China

    Chunyan Li, Menghua Xiong, Jianfang Zhang, Guyuan Qiao, Jia Li & Hong Yang

  2. Department of Obstetrics and Gynecology, 518 Hospital of PLA, Xi’an, 710043, Shaanxi, China

    Ying Zhan

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  1. Chunyan Li
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  7. Hong Yang
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Corresponding author

Correspondence to Hong Yang.

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Funding

The study was supported by the National Natural Science Foundation of China (No. 82172993).

Conflict of interest

Chunyan Li, Menghua Xiong, Ying Zhan, Jianfang Zhang, Guyuan Qiao, Jia Li, and Hong Yang have no conflicts of interest that are directly relevant to the content of this article.

Ethics approval

The study was approved by the Chinese PLA General Hospital Medical Ethics Committee (S2016-120-02).

Consent to participate

All individual participants signed written informed consent.

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Not applicable.

Availability of data and material

The datasets are available from the corresponding author on reasonable request.

Code availability

Not applicable.

Author contributions

HY conceived and designed the study. CL drafted the manuscript. CL, MX, and YZ participated in data collection. JZ and GQ performed the data analysis and interpretation. CL and JL revised the manuscript. All authors have read and approved the final article.

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Li, C., Xiong, M., Zhan, Y. et al. Clinical Potential of Expanded Noninvasive Prenatal Testing for Detection of Aneuploidies and Microdeletion/Microduplication Syndromes. Mol Diagn Ther 27, 769–779 (2023). https://doi.org/10.1007/s40291-023-00674-x

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  • DOI: https://doi.org/10.1007/s40291-023-00674-x

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