NCT04859179

Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 200 (estimated)
• Sponsor: Mahidol University · Academic / Other
• Sex: Female
• Age: 18 Years
• Healthy volunteers: Accepted

Summary

Spinal muscular atrophy (SMA) prenatal carrier screening is recommended by American College of Medical Genetics (ACMG) and American College of Obstetrics and Gynecology (ACOG). However, in Thailand, there are no standard protocol for SMA prenatal carrier screening.

Detailed description

Spinal muscular atrophy (SMA) is one of the most common neuromuscular autosomal recessive disorders. The incidence is about 1:10,000 livebirths. There are 5 subgroups base on onset of symptoms and clinical severity. Type 1 is the most severe type which age of onset is 6 months old and life expectancy is less than 1-2 years. SMA carrier frequency is approximately 1/40-1/60. Molecular genetic testing to detect copies number of SMN1 gene is possible with as high as 95% detection rate. Since 2008, American College of Medical Genetics (ACMG) and American College of Obstetrics and Gynecology (ACOG) recommended SMA preconceptional and prenatal carrier screening in general population. In Thailand, there are no standard protocol for SMA prenatal carrier screening.

Conditions

• Spinal Muscular Atrophy

Timeline

• Start date: 2021-03-10
• Primary completion: 2022-03-01
• Completion: 2022-03-01
• First posted: 2021-04-26
• Last updated: 2021-04-26

Locations

1 site across 1 country: Thailand