Prevention is the Best Therapy: The Geneticist's Approach.

We present our experience using PGD for four Lysosomal storage disorders: Tay Sachs, Gaucher type 1, Hunter and Fabry disease with some of the couples being carriers of more than one genetic disorder. PGD is applicable to most disorders for which the gene and the familial mutation are known and should be presented to couples as an alternative to invasive prenatal testing. PMID: 27491212 [PubMed - in process]

http://www.ncbi.nlm.nih.gov/pubmed/27491212?dopt=Abstract

Source: Pediatric Endocrinology Reviews - August 8, 2016 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research