Prenatal carrier screening for spinal muscular atrophy among Thai pregnant women

Abstract

ABSTRACTObjectivesTo investigate the acceptance rate for spinal muscular atrophy (SMA) carrier screening among Thai pregnant women, their attitudes toward the prenatal screening, carrier rate, and the frequencies ofSMN2copy numbers.Materials and methodsSingleton pregnant women who aged ≥18 years, with a gestational age of ≤14 weeks at their first visit, were invited to participate the study. All participants completed the questionnaire: Section I - demographic data. Then, they received a pre-test group counseling, followed by an offer of SMA carrier testing at no cost and completion of the questionnaire: Section II - awareness and attitudes toward the screening and Section III – reasons for their choosing ‘to have’ or ‘not to have’ the screening done. Only those having the test done and undergoing post-test counseling were asked to complete the questionnaire: Section IV – attitudes toward the screening process.ResultsWe found a high acceptance rate for carrier screening at 91.4% (181/198 participants), a carrier rate of 2.2% (1 in 45), and high frequency of ≤2 copies ofSMN2(98.3%). The preexisting knowledge about SMA was low (30.8%). The majority of participants became realized about the severity of SMA and its burden to the families (94.4%) and agreed to have fetal diagnosis if they were found to be a couple-at-risk (92.4%). Most participants (98%) suggested that SMA carrier screening should be offered to all pregnant women and that the cost of testing should be covered by the government and/or by their health coverage schemes (95.5%).ConclusionThe high acceptance rate and positive attitude toward prenatal SMA carrier was demonstrated among Thai pregnant women. Data from the present study highlight urgent needs for endorsement from professional society and public health policy in advancing the SMA carrier screening program in Thailand.