Jiraanont, Poonnada

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Jiraanont, Poonnada
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Email
poonnada.ji@kmitl.ac.th

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    Item type:Publication,
    Population-based FMR1 carrier screening among reproductive women
    (2024-11-01)
    Ain, Quratul
    ;
    Hwang, Ye Hyun
    ;
    Yeung, Daryl
    ;
    Panpaprai, Pacharee
    ;
    Iamurairat, Wiwat
    Purpose: Fragile X syndrome (FXS) is a neurodevelopmental disorder, caused by an CGG repeat expansion (FM, > 200 CGG) in the fragile X messenger ribonucleoprotein 1 (FMR1) gene. Female carriers of a premutation (PM; 55–200 CGG) can transmit the PM allele, which, depending on the CGG allele size, can expand to an allele in the FM range in the offspring. Methods: Carrier screening for FMR1 PM is not available in Thailand. This study aimed to investigate the prevalence of PM carriers among Thai reproductive women at the tertiary hospital. A total of 1250 females participated in this study; ages ranged from 20 to 45 years, mean of 30 years (S.D. = 6.27). Results: Two carriers of a premutation allele, with 32,62 and 32,69 CGG repeats respectively, were identified. This corresponds to 1 in 600 women or 0.17% of the population. Further, three women carrying a gray zone allele (45–54 CGG repeats) were identified (29,51; 29,49; and 30,47 CGG repeats) which equals to 1:400 women or 0.25% of the population. No FM case was detected. Conclusions: This study heightens the importance of PM carrier screening of women of reproductive age, particularly for the higher risk of developing fragile X–associated primary ovarian insufficiency (FXPOI). Early identification of PM carrier status enhances family planning and fecundity alternatives and improves reproductive health outcomes leading to a better life.
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    Item type:Publication,
    Acceptance and attitudes towards carrier and prenatal screening for fragile X syndrome among reproductive-aged Thai women: a cross-sectional study
    (2026-01-01)
    Tassanakijpanich, Nattaporn
    ;
    Chumchuen, Kemmapon
    ;
    Panpaprai, Pacharee
    ;
    Iamurairat, Wiwat
    ;
    Chutimongkonkul, Wiboon
    Objectives: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability, but Thailand lacks a carrier screening programme. We assessed knowledge, attitudes, and acceptance of FXS carrier and prenatal screening among reproductive-aged Thai women, exploring socio-demographic correlates. Methods: This study was conducted at a drop-in clinic, Department of Obstetrics and Gynecology of a Tertiary Hospital, where eligible women watched a 3-min educational video, and then completed a questionnaire evaluating knowledge, screening acceptance, and four attitude domains (disclosure, policy, relationship, pregnancy continuation). Ordinal logistic regression analysed socio-demographic associations. Results: Post-video, 87% of 772 women understood FXS well. Acceptance was substantial: 82% for carrier screening and 95% for prenatal investigation. Higher education was associated with greater knowledge (adjusted odds ratio [aOR] = 1.66, 95% confidence interval [CI]: 1.23–2.23) and policy support (aOR = 1.83, 95% CI: 1.35–2.48). Older age was associated with lower knowledge (aOR = 0.98, 95% CI: 0.96–1.00), disclosure intent (aOR = 0.98, 95% CI: 0.96–1.00), and agreement in continuing an affected pregnancy (aOR = 0.97, 95% CI: 0.95–0.99). Conclusion: Brief educational interventions can support informed acceptance of FXS screening. To support the diverse reproductive options, Thailand should implement publicly funded voluntary screening with culturally sensitive genetic counselling.