دورية أكاديمية
Performances of NIPT for copy number variations at different sequencing depths using the semiconductor sequencing platform
| العنوان: | Performances of NIPT for copy number variations at different sequencing depths using the semiconductor sequencing platform |
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| المؤلفون: | Jiexia Yang, Jing Wu, Haishan Peng, Yaping Hou, Fangfang Guo, Dongmei Wang, Haoxin Ouyang, Yixia Wang, Aihua Yin |
| المصدر: | Human Genomics, Vol 15, Iss 1, Pp 1-8 (2021) |
| بيانات النشر: | BMC, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Medicine LCC:Genetics |
| مصطلحات موضوعية: | Noninvasive prenatal testing (NIPT), Sequencing depth, Copy number variation (CNV), Positive predictive value (PPV), Medicine, Genetics, QH426-470 |
| الوصف: | Abstract Objective To evaluate the performance of noninvasive prenatal testing (NIPT) and NIPT-PLUS for the detection of genome-wide microdeletion and microduplication syndromes (MMSs) at different sequencing depths. The NIPT sequencing depth was 0.15X, and the data volume was 3 million reads; the NIPT-PLUS sequencing depth was 0.4X, and the data volume was 8 million reads. Methods A cohort of 50,679 pregnancies was recruited. A total of 42,969 patients opted for NIPT, and 7710 patients opted for NIPT-PLUS. All high-risk cases were advised to undergo invasive prenatal diagnosis and were followed up. Results A total of 373 cases had a high risk of a copy number variation (CNV) as predicted by NIPT and NIPT-PLUS: NIPT predicted 250 high-risk CNVs and NIPT-PLUS predicted 123. NIPT-PLUS increased the detection rate by 1.02% (0.58% vs 1.60%, p < 0.001). A total of 291 cases accepted noninvasive prenatal diagnosis, with 197 cases of NIPT and 94 cases of NIPT-PLUS. The PPV of CNV > 10 Mb for NIPT-PLUS was significantly higher than that for NIPT (p = 0.02). The total PPV of NIPT-PLUS was 12.56% higher than that of NIPT (43.61% vs 30.96%, p = 0.03). Conclusion NIPT-PLUS had a better performance in detecting CNVs in terms of the total detection rate and total PPV. However, great care must be taken in presenting results and providing appropriate counseling to patients when deeper sequencing is performed in clinical practice. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1479-7364 |
| Relation: | https://doaj.org/toc/1479-7364 |
| DOI: | 10.1186/s40246-021-00332-5 |
| URL الوصول: | https://doaj.org/article/eef462c859354957a18f122e16392100 |
| رقم الأكسشن: | edsdoj.f462c859354957a18f122e16392100 |
| قاعدة البيانات: | Directory of Open Access Journals |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 14797364 |
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| DOI: | 10.1186/s40246-021-00332-5 |