Spinal Muscular Atrophy
Conditions
Keywords
spinal muscular atrophy, prenatal screening
Brief 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.
Interventions
None listed
Sponsors
Mahidol University
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Maternal age \> 18 years * Singleton pregnancy * Gestational age ≤ 14 weeks
Exclusion criteria
* Refuse to participate the research trial
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Rate of acceptance of prenatal carrier screening for spinal muscular atrophy | 12 months | Rate of acceptance of prenatal carrier screening for spinal muscular atrophy among pregnant women seeking prenatal care |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Factors associated rate of acceptance of prenatal carrier screening for spinal muscular atrophy | 12 months | Factors associated rate of acceptance of prenatal carrier screening for spinal muscular among pregnant women seeking prenatal care |
| Copies number of SMN1 and SMN2 genes in pregnant women | 12 months | Copies number of SMN1 and SMN2 genes in pregnant women among individuals who accepted carrier screening |
| Carrier frequency among individuals who accepted carrier screening | 12 months | Screen positive rate or rate of having 1 copy of SMN1 among individuals who accepted carrier screening |
| Pregnant women's attitudes toward spinal muscular atrophy and carrier screening | 12 months | After genetic counseling, pregnant women's attitudes toward spinal muscular atrophy and carrier screening will be evaluated by validated questionnaire. |
Countries
Thailand
Contacts
Primary ContactChayada Tangshewinsirikul
Backup ContactTakol Chareonsirisuthigul
Outcome results
None listed