International Society for Prenatal Diagnosis 2022 debate 3-Fetal genome sequencing should be offered to all pregnant patients.
Ignatia B Van den VeyverYuval YaronZandra C DeansPublished in: Prenatal diagnosis (2022)
Prenatal trio exome sequencing (ES) has become integrated into the care for pregnant women when the fetus has structural anomalies. Details regarding optimizing indications for prenatal exome sequencing, its detection rates with different categories of fetal anomalies, and principles of interpretation of pathogenicity of sequence variants are still under investigation. However, there is now growing consensus about its benefits for finding the cause of fetal structural anomalies. What is not established, is whether exome or genome sequencing (GS) has a place in the care of all pregnant women. This report is a summary of the debate on this topic at the 26th International Conference on Prenatal Diagnosis and Therapy. Both expert debaters considered the advantages and disadvantages. Advantages include the ability to diagnose serious childhood conditions without a prenatally observable phenotype, which creates the potential of early treatments. Disadvantages include difficulties with variant classification, counseling complexities, healthcare cost, and the burden on healthcare systems and families, in particular with the discovery of adult-onset disorders or variants of uncertain significance. Although both debaters weighed the balance of these conflicting arguments differently, they agreed that more research is needed to further explore the clinical utility and ethical aspects of GS for all pregnant women.
Keyphrases
- pregnant women
- healthcare
- copy number
- single cell
- end stage renal disease
- pregnancy outcomes
- genome wide
- palliative care
- ejection fraction
- quality improvement
- chronic kidney disease
- newly diagnosed
- small molecule
- machine learning
- peritoneal dialysis
- prognostic factors
- clinical practice
- high throughput
- chronic pain
- deep learning
- risk factors
- staphylococcus aureus
- affordable care act
- risk assessment
- gene expression
- smoking cessation
- label free
- cell therapy
- childhood cancer
- human health
- men who have sex with men