Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women

study id #: NCT04859179

condition: Spinal Muscular Atrophy

status: Recruiting

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.

results: https://clinicaltrials.gov/ct2/show/results/NCT04859179

last updated: February 04, 2022

start date: March 10, 2021

estimated completion: March 2022

last updated: April 26, 2021

size / enrollment: 200

study 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.

primary outcomes:

• Rate of acceptance of prenatal carrier screening for spinal muscular atrophy
  Rate of acceptance of prenatal carrier screening for spinal muscular atrophy among pregnant women seeking prenatal care
• 12 months
  

secondary outcomes:

• Factors associated rate of acceptance of prenatal carrier screening for spinal muscular atrophy
  12 months
• Copies number of SMN1 and SMN2 genes in pregnant women
  12 months
• Carrier frequency among individuals who accepted carrier screening
  12 months
• Pregnant women's attitudes toward spinal muscular atrophy and carrier screening
  12 months

inclusion criteria:

exclusion criteria: Criteria:

Refuse to participate the research trial

sponsor: Mahidol University

contacts: Chayada Tangshewinsirikul, 0898905444, [email protected]

investigators: Chayada Tangshewinsirikul,Ramathibodi Hospital, Mahidol University

trial center locations: Thailand

• Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women