Factors Influencing in Parental Decisions for Fetal Outcome in β-Thalassaemia Major

Maratib  Ali; Manzar  Bozdar; Hamid Saeed  Malik; Rafia  Mahmood; Ayesha  Khurshid; Aysha  Khan; Syeda Samia  Shafaat

doi:10.51253/pafmj.v76i1.12098

Authors

Maratib Ali Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi/National University of Medical Sciences (NUMS) Pakistan
Manzar Bozdar Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi/National University of Medical Sciences (NUMS) Pakistan
Hamid Saeed Malik Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi/National University of Medical Sciences (NUMS) Pakistan
Rafia Mahmood Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi/National University of Medical Sciences (NUMS) Pakistan
Ayesha Khurshid Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi/National University of Medical Sciences (NUMS) Pakistan
Aysha Khan Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi/National University of Medical Sciences (NUMS) Pakistan
Syeda Samia Shafaat Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi/National University of Medical Sciences (NUMS) Pakistan

DOI:

https://doi.org/10.51253/pafmj.v76i1.12098

Keywords:

Chorionic Villous Sampling, Prenatal Diagnosis, Polyacrylamide Gel Electrophoresis, Termination of Pregnancy

Abstract

Objective: To identify the factors that play a role in influencing decisions regarding the outcome of fetuses with ß-Thalassemia major (BTM).

Study Design: Prospective Observational Study.

Place and Duration of Study: Department of Haematology, AFIP, Rawalpindi, Pakistan, from Mar 23 to Feb 24.

Methodology: The Chorionic villus sample was received in laboratory for analysis of ß-Thalassemia mutations. Fetal DNA was extracted, and molecular analysis was performed by Polyacrylamide gel electrophoresis. All families diagnosed with a BTM fetus were followed up, and various factors affecting the decision were identified via a structured questionnaire. Results were entered and analyzed on SPSS version 23.

Results: Over a period of 1 year, a total of 182 samples were received for detection of ß-Thalassemia mutations. There were 48(26.4%) fetuses diagnosed as BTM, 51(28.0%) as normal and 83(45.6%) as ß-Thalassemia Minor. Parents of positive cases were followed up and out of 48 parents who had BTM fetuses, pregnancy was terminated in 43 cases (89.6%) and 5(10.4%) did not opt for termination. The main reason for not terminating the pregnancy were religious beliefs (60.0%), social pressure (20.0%) and twin pregnancy (20.0%). Regarding future use of PND in pregnancies, majority (60.4%) showed willingness, 8.3% were unwilling and 31.3% had no plan to conceive again.

Conclusions: This research has provided valuable insights into the nuanced and intricate landscape of families undergoing PND for ß-Thalassaemia major. The study highlights the need for awareness in the public and directs us to approach religious scholars, public figures, ,,

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References

1. Weatherall DJ. The inherited diseases of hemoglobin are an emerging global health burden. Blood 2010; 115(22): 4331-4336. https://doi:10.1182/blood-2010-01-251348

2. Cousens NE, Gibson JS, Blencowe H, et al. Thalassaemia s and other haemoglobin disorders in Southeast Asia. Lancet 2020; 396(10255): 843-845.

https://doi:10.1016/S0140-6736(20)31638-0

3. Galanello R, Origa R. Beta-thalassaemia . Orphanet J Rare Dis 2010; 5(1): 1-15.

https://doi:10.1186/1750-1172-5-11

4. Cappellini MD, Cohen A, Eleftheriou A, et al. Guidelines for the Clinical Management of Thalassaemia [Internet]. 2nd Revised edition. Nicosia (CY): Thalassaemia International Federation; 2008. REFERENCES. Available from:

https://www.ncbi.nlm.nih.gov/books/NBK173982/

5. Ahmed S, Atkin K, Hewison J, Green JM. The influence of faith and religion and the role of religious and community leaders in prenatal decisions for sickle cell disorders and thalassaemia major. Prenat Diagn 2006; 26(9): 801-809.

https://doi:10.1002/pd.1510

6. Lo KK, Li CK, Luk CW, Chung BH, Ha SY, Lau YL, et al. Changing incidence of ß-Thalassaemia major in Hong Kong: success story of a comprehensive prevention program. J Med Genet 2022; 59(1): 71-75.

https://doi:10.1136/jmedgenet-2021-107818

7. Tahura S, Mascie-Taylor CGN, Alam MS, et al. Knowledge, attitude and practice of thalassaemia prevention among the ethnic minorities in Bangladesh. J Biosoc Sci 2022; 54(2): 239-254. https://doi:10.1017/S0021932021000148

8. Nadeem I , Shabnum B, Saima K, Rizwana C. Role of Prenatal Diagnosis in Thalassaemia Prevention. JRMC [Internet]. 2017; 21(2).

https://mail.journalrmc.com/index.php/JRMC/article/view/71

9. Winichagoon P, Svasti S, Munkongdee T, et al. Burden and Prevention of Thalassaemia s in Thailand. Int J Environ Res Public Health 2021; 18(9): e4561.

https://doi:10.3390/ijerph18094561

10. Saleem N, Anwar A, Shahid NUA, Saleem R, Saleem Z, Asghar H, et al. Perception of Parents of Thalassemic Child to Thalassemia in Pakistan. Cureus 2021; 13(8): e17615.

https://doi:10.7759/cureus.17615

11. Singh G, Mitra Y, Kaur K, Bhardwaj K. Knowledge, Attitude and Practices of Parents of Thalassemic Children in District Patiala, Punjab, India. Public Health Rev Int J Public Health Res 2019; 6(1): 25-34. https://doi:10.17511/ijpr.2019.i01.04

12. Zaidi SU, Anjum F, Memon A, et al. A Comprehensive Review of Thalassaemia in Pakistan: Current Status and Future Perspectives. Hemoglobin 2022; 46(5-6): 295-304.

https://doi:10.1080/03630269.2022.2116284

13. Javed A, Hanafi N, Chaudhary SA, et al. Exploring the Knowledge, Attitude, and Practices of Thalassaemia Patients and Parents of Thalassaemia Children in Pakistan. Hemoglobin 2021; 45(1): 21-26. https://doi:10.1080/03630269.2021.1882524

14. Ebrahim S, Raza AZ, Hussain M, Khan A, Kumari L, Rasheed R, et al. Knowledge and Beliefs Regarding Thalassemia in an Urban Population. Cureus 2019; 11(7): e5268.

https://doi:10.7759/cureus.5268

15. Ansari SH, Shamsi TS, Ashiqai M, et al. Molecular Epidemiology of β-Thalassaemia in Pakistan: A Multicenter Study. Ann N Y Acad Sci 2020; 1470(1): 23-36.

https://doi:10.1111/nyas.14325

16. Bozdar M, Ahmed S, Jamy OH, Bin Hanif T, Ali N, Khan Khattak SA et al. Role of genetic counselling in prenatal diagnosis of β-thalassaemia in Pakistan. J Coll Physicians Surg Pak 2013; 23(8): 553-557.

https://doi:08.2013/JCPSP.553557

17. Ehsan Y, Bashir S, Sabir F, Ghafoor M, Khaliq S. Six-year experience of prenatal diagnosis for ß-Thalassaemia in twin pregnancies and selective foetal reduction - A case series. J Pak Med Assoc 2020; 70(11): 2061-2064.

https://doi:10.47391/JPMA.512

18. Manzoor I, Zakar R. Sociodemographic determinants associated with parental knowledge of screening services for thalassemia major in Lahore. Pak J Med Sci 2019; 35(2): 483-488.

https://doi:10.12669/pjms.35.2.613

19. Monni G, Ibba RM, Murgia F, Ventrella A, Murru S. Antenatal Screening and Diagnosis of ß-thalassaemia in High-Risk Population of Sardinia. Ann Hematol Oncol 2022; 9(5): e1410.

https://doi:10.26420/AnnHematolOncol.2022.1410

20. Saleem N, Anwar A, Shahid NUA, Saleem R, Saleem Z, Asghar H, et al. Perception of Parents of Thalassemic Child to Thalassemia in Pakistan. Cureus 2021; 13(8): e17615.

https://doi:10.7759/cureus.17615

21. Srivastava A, Shaji RV. Cure for Thalassaemia Major - From Gene Therapy to Editing. Stem Cells Transl Med 2019; 8(7): 626-628. https://doi:10.1002/sctm.18-0270

22. Motta I, Mussolino C, Cecchi L, Rosso R. Gene Therapy for Hemoglobin Disorders. Int J Mol Sci 2022; 23(5): 2729.

https://doi:10.3390/ijms23052729