Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management
Unexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and pregnancy management. Postnatally exome sequencing yie...
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| 主要な著者: | , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | 英語 |
| 出版事項: |
2018
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| オンライン･アクセス: | https://doi.org/10.1038/gim.2018.30 http://www.gimjournal.org/article/S1098360021026149/pdf |
| タグ: |
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