The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting
| العنوان: | The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting |
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| المؤلفون: | Rivka Sukenik-Halevy, Noa Ruhrman-Shahar, Lina Basel-Salmon, Noy Azulay, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Ofir Hagari, Lily Bazak, Nurit Magal, Gabriel Arie Lidzbarsky, Naama Orenstein |
| المصدر: | Prenatal Diagnosis. 41:701-707 |
| بيانات النشر: | Wiley, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, Proband, Pediatrics, medicine.medical_specialty, Noninvasive Prenatal Testing, MEDLINE, Prenatal diagnosis, 030105 genetics & heredity, 03 medical and health sciences, Fetus, 0302 clinical medicine, Pregnancy, Exome Sequencing, Humans, Medicine, Exome, Genetics (clinical), Exome sequencing, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics and Gynecology, Cohort, Female, business, Neurocognitive |
| الوصف: | Objective Laboratories performing prenatal exome sequencing (ES) frequently limit analysis to predetermined gene lists. We used a diagnostic postnatal ES cohort to assess how many of the genes diagnosed are not included in a number of select fixed lists used for prenatal diagnosis. Methods Of 601 postnatal ES tests, pathogenic variants related to neurodevelopmental disorders were detected in 138 probands. We evaluated if causative genes were present in the following: (1) Developmental Disorders Genotype-Phenotype database list, (2) a commercial laboratory list for prenatal ES, (3) the PanelApp fetal anomalies panel, and (4) a published list used for prenatal diagnosis by ES (Prenatal Assessment of Genomes and Exomes study). Results The percentages of cases where the diagnosed gene was not included in the selected four lists were; 11.6%, 17.24%, 23.2%, and 10.9%, respectively. In 13/138 (9.4%) cases, the causative gene was not included in any of the lists; in 4/13 (∼30%) cases noninclusion was explained by a relatively recent discovery of gene-phenotype association. Conclusions A significant number of genes related to neurocognitive phenotypes are not included in some of the lists used for prenatal ES data interpretation. These are not only genes related to recently discovered disorders, but also genes with well-established gene-phenotype. |
| تدمد: | 1097-0223 0197-3851 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f23243101fb9b3cae897459b69ed1b8Test https://doi.org/10.1002/pd.5929Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....1f23243101fb9b3cae897459b69ed1b8 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10970223 01973851 |
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