Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child

Area of Science:

• Medical Genetics
• Reproductive Medicine
• Neuromuscular Disorders

Background:

• Myotonic dystrophy type 1 (DM1) is an inherited disease posing risks to offspring.
• Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis for at-risk couples.
• Limited data exists on the large-scale clinical application of PGD for DM1.

Purpose of the Study:

• To describe the clinical application and outcomes of PGD for DM1 in a large cohort of at-risk couples.
• To evaluate the safety and efficacy of PGD for preventing DM1 transmission.
• To assess the live-birth rate and health of children born following PGD for DM1.

Main Methods:

• Prospective description of PGD cycles for 78 couples at risk of transmitting DM1.
• Clinical assessment of affected DM1 females for potential cardiological, obstetrical, and anaesthetical issues.
• Monitoring of live-birth rates and infant health, including psychomotor development.

Main Results:

• PGD was offered to all 78 couples regardless of triplet repeat size.
• Major complications were minimal due to careful patient assessment.
• A 20% live-birth delivery rate per cycle with oocyte retrieval was achieved.
• 48 out of 49 children born were healthy with normal psychomotor development.

Conclusions:

• PGD is a viable and safe option for couples at risk of transmitting DM1.
• Careful multidisciplinary assessment minimizes complications in affected females.
• PGD enables the birth of healthy children, preventing the transmission of DM1.