Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women

• Conditions: Spinal Muscular Atrophy

• Registration Number: NCT04859179
• Lead Sponsor: Mahidol University

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.

Study Timeline

• Study Start: 2021-03-10
• Study First Submitted: 2021-03-26
• Status Verified: 2021-04
• Study First Submitted QC: 2021-04-21
• Last Update Submitted: 2021-04-21
• Study First Posted: 2021-04-26
• Last Update Posted: 2021-04-26
• Primary Completion: 2022-03
• Study Completion: 2022-03

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: Female
• Target Recruitment: 200

Inclusion Criteria

• Maternal age > 18 years
• Singleton pregnancy
• Gestational age ≤ 14 weeks

Exclusion Criteria

• Refuse to participate the research trial

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
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
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
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.
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

Trial Locations

Locations (1)

Faculty of Medicine, Ramathibodi Hospital, Mahidol University; 🇹🇭 Ratchathewi, Bangkok, Thailand