1. Fetal whole genome sequencing as a clinical diagnostic tool: Advantages, limitations and pitfalls.
- Author
-
Basel-Salmon L and Brabbing-Goldstein D
- Subjects
- Humans, Pregnancy, Female, Fetal Diseases diagnosis, Fetal Diseases genetics, Genetic Diseases, Inborn diagnosis, Genetic Diseases, Inborn genetics, Exome Sequencing methods, Genetic Testing methods, Whole Genome Sequencing methods, Prenatal Diagnosis methods
- Abstract
Genome-wide sequencing, which includes exome sequencing and genome sequencing, has revolutionized the diagnostics of genetic disorders in both postnatal and prenatal settings. Compared to exome sequencing, genome sequencing enables the detection of many additional types of genomic variants, although this depends on the bioinformatics pipelines used. Variant classification might vary among laboratories. In the prenatal setting, variant classification may change if new fetal phenotypic features emerge as the pregnancy progresses. There is still a need to evaluate the incremental diagnostic yield of genome sequencing compared to exome sequencing in the prenatal setting. This article reviews the advantages and limitations of genome sequencing, with an emphasis on fetal diagnostics., Competing Interests: Declaration of competing interest None., (Copyright © 2024 Elsevier Ltd. All rights reserved.)
- Published
- 2024
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