Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women
study id #: NCT04859179
condition: Spinal Muscular Atrophy
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.
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.
- 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
- Factors associated rate of acceptance of prenatal carrier screening for spinal muscular atrophy
- Copies number of SMN1 and SMN2 genes in pregnant women
- Carrier frequency among individuals who accepted carrier screening
- Pregnant women's attitudes toward spinal muscular atrophy and carrier screening
• Eligible Sexes: female
Maternal age > 18 years
Gestational age ≤ 14 weeks
exclusion criteria: Criteria:
Refuse to participate the research trial
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