Pre-implantation Genetic Testing in Inherited Metabolic Diseases? Stateof- the-art and current challenges

CONCLUSION: PGT is a reliable approach to reduce the risk of transmission of a genetic condition to the offspring. The list of IEM disorders currently accepted for this technique in Portugal are small, but it is expanding, as many more diseases fit the necessary criteria. While appealing in theory, low success rates coupled with limited availability can be discouraging for patients. Genetic counselling is of paramount importance after the diagnosis of IEM diseases. It is important for both clinicians and patients to be made aware of the available reproductive options and their limitations.PMID:38111111 | DOI:10.2174/0118715303279986231211090830
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - Category: Endocrinology Authors: Source Type: research