AI Article Synopsis
- * Rapid whole-exome sequencing (R-WES) was performed on 18 infants in ICU suspected of having a genetic cause for their severe conditions, yielding a diagnosis in 72.2% of cases within 5-14 days.
- * R-WES is suggested as an effective first-tier diagnostic tool for critically ill infants, enabling timely medical management and providing families with essential genetic counseling.
Article Abstract
Genetic disorders are the leading cause of infant morbidity and mortality. Due to the large number of genetic diseases, molecular and phenotype heterogeneity and often severe course, these diseases remain undiagnosed. In infants with a suspected acute monogenic disease, rapid whole-exome sequencing (R-WES) can be successfully performed. R-WES (singletons) was performed in 18 unrelated infants with a severe and/or progressing disease with the suspicion of genetic origin hospitalized in an Intensive Care Unit (ICU). Blood samples were also collected from the parents. The results from the R-WES were available after 5-14 days. A conclusive genetic diagnosis was obtained in 13 children, corresponding to an overall diagnostic yield of 72.2%. For nine patients, R-WES was used as a first-tier test. Eight patients were diagnosed with inborn errors of metabolism, mainly mitochondrial diseases. In two patients, the disease was possibly caused by variants in genes which so far have not been associated with human disease ( and ). R-WES proved to be an effective diagnostic tool for critically ill infants in ICUs suspected of having a genetic disorder. It also should be considered as a first-tier test after precise clinical description. The quickly obtained diagnosis impacts patient's medical management, and families can receive genetic counseling.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408678 | PMC |
| http://dx.doi.org/10.3390/jcm9072220 | DOI Listing |
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