Publications by authors named "Breanna N Valcarcel"
Article Synopsis
- Nonimmune hydrops fetalis (NIHF) is a serious condition where fluid accumulates in a fetus due to various genetic and non-genetic causes, and the study aimed to improve diagnostic outcomes using prenatal exome sequencing after standard tests returned negative results.
- Researchers in the HYDROPS study performed exome sequencing on fetal samples and parental blood, finding that 50% of the cases yielded diagnostic results, while about 22.7% had possible diagnoses.
- The study concluded that exome sequencing is a valuable tool in identifying the causes of NIHF, which can inform prognosis and future pregnancy risks, highlighting its importance in clinical practices after standard evaluations.
Article Synopsis
- Hydrops fetalis (HF) is a serious condition where fluid builds up in a fetus, often linked to genetic disorders, yet genetic testing usually focuses on a limited number of genes.*
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- A comprehensive literature review identified 131 genes with strong links to nonimmune hydrops fetalis (NIHF), as well as 46 emerging genes related to various disorders, highlighting the diagnostic gap in current testing.*
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- The study suggests that many significant genes associated with NIHF may be missed by existing sequencing techniques, indicating a need for broader genetic testing methods, like exome sequencing, to improve clinical diagnosis and treatment.*
