Prenatal carrier screening for spinal muscular atrophy among Thai pregnant women

Abstract

Objectives. To 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 of SMN2 copy numbers. Materials and methods. Singleton 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. Results. We 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 of SMN2 (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%). Conclusion. The 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.

Competing Interest Statement

The authors have declared no competing interest.

Funding Statement

Yes

Author Declarations

I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.

Yes

The details of the IRB/oversight body that provided approval or exemption for the research described are given below:

The protocol was granted by the Ramathibodi Hospital Institutional Review Board (COA, MURA2020/1420) and complied with the Declaration of Helsinki.

I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals.

Yes

I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance).

Yes

I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable.

Yes

Data Availability

The datasets generated and/or analyzed during the current study are not publicly available due to limitations of ethical approval involving the patient data and anonymity but are available from the corresponding author on reasonable request.

留言 (0)

沒有登入
gif