Introduction: Beta-thalassemia is the most prevalent hemoglobin disorder in Pakistan, posing a significant disease burden. Prenatal diagnosis through chorionic villus sampling (CVS) offers an effective strategy for preventing the birth of affected children. However, the acceptability of this procedure and compliance with subsequent therapeutic abortion are influenced by a variety of medical, cultural, and social factors. This study aimed to evaluate the rates of CVS procedure acceptability and therapeutic abortion compliance among high-risk mothers and to identify the associated sociodemographic determinants.

Methods: A retrospective observational study was conducted from January 2014 to April 2025. The study included 266 thalassemia minor pregnant mothers, each having previously given birth to a child with thalassemia major, who were selected via non-probability consecutive sampling. Informed consent was taken. The study was conducted in two phases; first phase assessed CVS procedure acceptability, defined as the agreement of couples and their immediate family to undergo the procedure. The second phase determined compliance for therapeutic abortion of fetuses affected with thalassemia major. Data on ethnicity, gestation (weeks) at reporting, monthly income, parental education, residence and family support system were collected by physical interviews and telephone contacts. The data was analysed using IBM SPSS v27.

Results: Majority of the participants were of Punjabi ethnicity (n=190, 71.4%), followed by Pathan (n=48, 18.0%), Kashmiri (n=16, 6.0%) and others (n=12, 4.5%). Area of residence was urban (n=128, 48.1%), rural (n=101, 38%) and not reported (n=37, 13.9%). One hundred fifty-eight (59.4%) lived in a joint family system compared to a nuclear family (n=70, 26.3%). Primary schooling (Grade 5) was the commonest education level with values for fathers and mothers being 34.2% (n=91) and 32.7% (n=87), respectively. Mean gestational age at reporting for the initial consultation was 8.86±2.27 weeks. For the 227 participants who reported their income, the median value was 3.76 USD per day (IQR = 2.94 USD per day).

Out of 266 mothers, 208 (78.2%) accepted to undergo CVS procedure. Fifty-eight mothers (21.8%) did not undergo CVS procedure due to pregnancy complications (n= 17, 29.3%), family pressure (n=8, 13.8%), financial constraints (n=2, 3.4%) and refusal to answer (n=3, 5.2%). Twenty-eight (48.3%) mothers did not return telephone calls. Mother's education status had a significant association with CVS procedure acceptability (χ², p=0.013). CVS procedure acceptability was 81.6% in mothers with grade 5 education, 76.6% with grade 10, 90% with grade 12 and 88.9% with a graduate degree. The education status of fathers was also significantly associated with support for the wife to undergo CVS procedure (χ², p=0.020). CVS procedure acceptability in fathers was 83.5% with grade 5 education, 81.5% with grade 10, and 80.8% with grade 12. Acceptance was higher among mothers residing in urban areas (83.6%) compared to rural areas (80.2%) (χ², p=0.001) and those living in a nuclear family system (84.3%) versus a joint family system (81.0%) (χ², p=0.001).

CVS testing of 208 pregnancies revealed thalassemia major in 55 (20.7%) fetuses, thalassemia minor in 80 (30.1%) and normal results in 73 (27.4%). Two normal cases (0.8%) turned out to be thalassemia major after birth, giving a false negative rate of 1%. Among 55 pregnant females with thalassemia major fetuses, 51 (92.7%) opted for therapeutic abortion. Reasons for refusing therapeutic abortion were being skeptical of the reliability (n=1), family pressure (n=1) and lack of access to medical facility and late CVS test result (n=1). One family declined to disclose about undergone therapeutic abortion.

Conclusion: In this high-risk cohort of mothers with firsthand experience of raising a child with thalassemia major, the acceptability to undergo CVS procedure was positively influenced by better sociodemographic status like parental education, urban living, and a nuclear family structure. Once a diagnosis of thalassemia major was confirmed in the fetus, some mothers still declined therapeutic abortion. There is a need for targeted interventions using community awareness, education at school and religious forums, early gestational referrals in the target population and provision of facilities for CVS procedure and therapeutic abortion.

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2025
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