An approach to integrating exome sequencing for fetal structural anomalies into clinical practice
| Autor: | Alicia Brandt, Karen E. Weck, Emily Hardisty, Jonathan S. Berg, Neeta L. Vora, Kirk C. Wilhelmsen, Natasha T. Strande, Bradford C. Powell, Kelly L. Gilmore, Chelsea Gustafson, Cynthia M. Powell, Phillips Owen, Ann Katherine M. Foreman, Lori A. Ramkissoon |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Microarray Genetic counseling Population Prenatal diagnosis 030105 genetics & heredity Ultrasonography Prenatal Article 03 medical and health sciences Pregnancy Prenatal Diagnosis Exome Sequencing Humans Medicine Exome education Genetics (clinical) Exome sequencing education.field_of_study Fetus business.industry Obstetrics Obstetrics and Gynecology Karyotype General Medicine medicine.disease Human genetics Pregnancy Trimester First 030104 developmental biology Female business |
| Zdroj: | Genet Med |
| Popis: | PURPOSE: We investigated the diagnostic and clinical performance of trio exome sequencing (ES) in parent–fetus trios where the fetus had sonographic abnormalities but normal karyotype, microarray and, in some cases, normal gene-specific sequencing. METHODS: ES was performed from DNA of 102 anomalous fetuses and from peripheral blood from their parents. Parents provided consent for the return of diagnostic results in the fetus, medically actionable findings in the parents, and identification as carrier couple for significant autosomal recessive conditions. RESULTS: In 21/102 (20.6%) fetuses, ES provided a positive-definitive or positive-probable diagnosis. In 10/102 (9.8%), ES provided an inconclusive-possible result. At least 2/102 (2.0%) had a repeat pregnancy during the study period and used the information from the study for prenatal diagnosis in the next pregnancy. Six of 204 (2.9%) parents received medically actionable results that affected their own health and 3/102 (2.9%) of couples received results that they were carriers for the same autosomal recessive condition. CONCLUSION: ES has diagnostic utility in a select population of fetuses where a genetic diagnosis was highly suspected. Challenges related to genetics literacy, variant interpretation, and various types of diagnostic results affecting both fetal and parental health must be addressed by highly tailored pre- and post-test genetic counseling. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|