دورية أكاديمية
Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses
| العنوان: | Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses |
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| المؤلفون: | Gang Peng, Qinghua Zhou, Hongyan Chai, Jiadi Wen, Hongyu Zhao, Hugh S. Taylor, Yong‐Hui Jiang, Peining Li |
| المصدر: | Molecular Genetics & Genomic Medicine, Vol 11, Iss 8, Pp n/a-n/a (2023) |
| بيانات النشر: | Wiley, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Genetics |
| مصطلحات موضوعية: | chromosome microarray analysis (CMA), genomic disorders, pathogenic copy number variants (pCNVs), pregnancy loss (PL), products of conception (POC), spontaneous abortion (SAB), Genetics, QH426-470 |
| الوصف: | Abstract A meta‐analysis on seven large case series (>1000 cases) of chromosome microarray analysis (CMA) on products of conceptions (POC) evaluated the diagnostic yields of genomic disorders and syndromic pathogenic copy number variants (pCNVs) from a collection of 35,130 POC cases. CMA detected chromosomal abnormalities and pCNVs in approximately 50% and 2.5% of cases, respectively. The genomic disorders and syndromic pCNVs accounted for 31% of the detected pCNVs, and their incidences in POC ranged from 1/750 to 1/12,000. The newborn incidences of these genomic disorders and syndromic pCNVs were estimated in a range of 1/4000 to 1/50,000 live births from population genetic studies and diagnostic yields of a large case series of 32,587 pediatric patients. The risk of spontaneous abortion (SAB) for DiGeorge syndrome (DGS), Wolf–Hirschhorn syndrome (WHS), and William–Beuren syndrome (WBS) was 42%, 33%, and 21%, respectively. The estimated overall risk of SAB for major genomic disorders and syndromic pCNVs was approximately 38%, which was significantly lower than the 94% overall risk of SAB for chromosomal abnormalities. Further classification on levels of risk of SAB to high (>75%), intermediate (51%–75%), and low (26%–50%) for known chromosomal abnormalities, genomic disorders, and syndromic pCNVs could provide evidence‐based interpretation in prenatal diagnosis and genetic counseling. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2324-9269 06871658 |
| العلاقة: | https://doaj.org/toc/2324-9269Test |
| DOI: | 10.1002/mgg3.2181 |
| الوصول الحر: | https://doaj.org/article/b6114eb278a54495b6af068716582854Test |
| رقم الانضمام: | edsdoj.b6114eb278a54495b6af068716582854 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 23249269 06871658 |
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| DOI: | 10.1002/mgg3.2181 |