Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women

ID de estudio #: NCT04859179

condición: Atrofia muscular en la columna

Estado: Reclutamiento

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.

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

última actualización: Febrero

fecha de inicio: Marzo 10, 2021

finalización estimada: Marzo 2022

última actualización: 26 de abril de 2021

tamaño / inscripción: 200

descripción del estudio: 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.

resultados primarios:

• 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 meses
  

resultados secundarios:

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

criterios de inclusión:

Criterio de exclusión: Criterios:

Refuse to participate the research trial

patrocinador: Universidad de mahidol

Contactos: Chayada Tangshewinsirikul, 0898905444, chayada.tan@mahidol.ac.th

investigadores Chayada Tangshewinsirikul,Ramathibodi Hospital, Mahidol University

ubicaciones del centro de prueba: Tailandia

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