Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women
试验速览
- 阶段
- 不适用
- 入组人数
- 200
- 试验地点
- 1
- 主要终点
- Rate of acceptance of prenatal carrier screening for spinal muscular atrophy
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 是
入选标准
- •Maternal age > 18 years
- •Singleton pregnancy
- •Gestational age ≤ 14 weeks
排除标准
- •Refuse to participate the research trial
结局指标
主要结局
Rate of acceptance of prenatal carrier screening for spinal muscular atrophy
时间窗: 12 months
Rate of acceptance of prenatal carrier screening for spinal muscular atrophy among pregnant women seeking prenatal care
次要结局
- Carrier frequency among individuals who accepted carrier screening(12 months)
- Factors associated rate of acceptance of prenatal carrier screening for spinal muscular atrophy(12 months)
- Pregnant women's attitudes toward spinal muscular atrophy and carrier screening(12 months)
- Copies number of SMN1 and SMN2 genes in pregnant women(12 months)
研究者
Chayada Tangshewinsirikul
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University
Mahidol University