Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.,Prenatal Diagnosis

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Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.
Prenatal Diagnosis ( IF 3 ) Pub Date : 2020-05-31 , DOI: 10.1002/pd.5762
Aishwarya Arjunan ₁ , Holly Bellerose ₁ , Raul Torres ₁ , Rotem Ben-Shachar ₁ , Jodi D Hoffman ₂ , Brad Angle ₃ , Robert Nathan Slotnick ₄ , Brittany N Simpson ₅ , Andrea M Lewis _{6,

7} , Pilar L Magoulas _{6,

7} , Kelly Bontempo ₃ , Jeanine Schulze ₈ , Jennifer Tarpinian ₉ , Jessica A Bucher ₃ , Richard Dineen ₁₀ , Allison Goetsch _{11,

12} , Gabriel A Lazarin ₁ , Katherine Johansen Taber ₁

Affiliation

Division of Medical Affairs, Myriad Women's Health, South San Francisco, CA, USA.
Department of Pediatric Genetics, Boston University School of Medicine, Boston, MA, USA.
Division of Genetics, Advocate Children's Hospital, Park Ridge, IL, USA.
Department of Internal Medicine, Renown Health Cancer Institute, Reno, NV, USA.
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Department of Molecular and Human Genetics, Texas Children's Hospital, Houston, TX, USA.
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Department of Clinical Genetics and Genomics, Rush University Medical Center, Chicago, IL, USA.
Division of Genetics, Birth Defects & Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four severity categories (mild, moderate, severe, and profound) to 176 genes screened by ECS. Disease traits defining severity categories in the algorithm were then mapped to four severity‐related ECS panel design criteria cited by the American College of Obstetricians and Gynecologists (ACOG).

中文翻译：

在扩展的携带者筛选面板上对 176 个基因的严重程度进行评估和分类。

在考虑将基因纳入生殖扩展携带者筛查 (ECS) 面板时，疾病严重程度很重要。我们对 ECS 筛选的 176 个基因应用了一种经过验证且先前发布的算法，该算法将疾病分为四个严重程度类别（轻度、中度、重度和深度）。然后将算法中定义严重程度类别的疾病特征映射到美国妇产科医师学会 (ACOG) 引用的四个与严重程度相关的 ECS 面板设计标准。

更新日期：2020-05-31

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