2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Preimplantation Genetic Diagnosis for Facioscapulohumeral muscular dystrophy

Pdf Summary

This study focuses on the use of preimplantation genetic testing for facioscapulohumeral muscular dystrophy (FSHD). FSHD is a progressive disease that primarily affects the face, scapular stabilizers, legs, and hip girdle. This type of testing, known as PGT-M, is not commonly used for FSHD but can be effective in preventing the transmission of the disease to offspring.<br /><br />The method employed in this study involved constructing haplotypes using informative markers surrounding the FSHD gene, along with mutation testing if necessary. The FSHD gene is located in a subtelomeric region, which makes direct mutation analysis challenging. To overcome this, the researchers developed a set of six polymorphic Short Tandem Repeats (STR) markers closely linked to FSHD.<br /><br />A total of 21 women underwent PGT-M for FSHD, with a pre-PGD workup that included haplotype analysis for each family. Two to six informative STR markers were selected for each family to determine the affected parental allele. The study found that PGT-M using haplotype analysis from one side of the STR markers was a safe and effective method for preventing FSHD in the offspring.<br /><br />The results showed that a total of 196 IVF cycles were performed for the 21 women, resulting in the analysis of 268 embryos. The FSHD haplotype was successfully determined in 97.8% of the embryos (262 embryos). However, there were six instances of recombination events that led to embryo discordance.<br /><br />Overall, this study demonstrates the potential of PGT-M for FSHD as a means of preventing the transmission of the disease to future generations. The use of informative STR markers and haplotype analysis proved to be effective in identifying affected embryos during preimplantation testing.

Asset Subtitle

Presenting Author - Hagit Shani, MD; Co-Author - Baruch Feldman, MD PHD; Co-Author - Noa Harel Inbar, PHD; Co-Author - Haike Reznik-Wolf, PHD; Co-Author - Elon Pras, MD;

Meta Tag

Genetic Testing

Preimplantation Diagnosis

Co-Author Baruch Feldman, MD PHD

Co-Author Noa Harel Inbar, PHD

Co-Author Haike Reznik-Wolf, PHD

Co-Author Elon Pras, MD

Presenting Author Hagit Shani, MD

Keywords

preimplantation genetic testing

facioscapulohumeral muscular dystrophy

FSHD

PGT-M

disease prevention

haplotype construction

informative markers

mutation testing

Short Tandem Repeats

embryo discordance