Healthcare professionals' perceptions of implementing a decision support intervention for cascade screening for beta-thalassemia in Pakistan.

Counselling relatives of individuals with ßeta-Thalassaemia Major (ß-TM) about cascade screening is the role of field officers (FOs) in the Punjab Thalassaemia Prevention Project (PTPP). This paper presents FOs' views about using a 'decision support intervention for relatives' (DeSIRe) to facilitate informed decision making, and their perception of its implementation and sustainability. Semi-structured qualitative interviews were conducted with nine FOs (June to July 2021) in seven cities in the Punjab province (Lahore, Sheikhupura, Nankana Sahab, Kasur, Gujranwala, Multan, and Faisalabad) following its use in routine clinical practice. Thematic analysis shows that the FOs were overwhelmingly supportive of the DeSIRe, expressing enthusiasm and identifying benefits of its use, both for their own practice and for relatives. They supported the aim of the intervention to enable them to facilitate relatives' decision-making about cascade screening, and advocated its use more widely within the PTPP and the other provinces of Pakistan. Overall, the DeSIRe was valued by the FOs for use in routine practice. These findings suggest the DeSIRe is highly likely to be implemented by healthcare professionals more widely in the PTPP and, therefore, is worth evaluating to prove its efficacy. Further research is needed on the extent to which the DeSIRe could be adapted for use by other healthcare professionals with similar responsibilities in the other provinces of Pakistan, and in other low-middle income countries.

Cascade screening for beta-thalassaemia in Pakistan: relatives' experiences of a decision support intervention in routine practice.

Low uptake of cascade screening for ßeta-thalassaemia major (ß-TM) in the 'Punjab Thalassaemia Prevention Project' (PTPP) in Pakistan led to the development of a 'decision support intervention for relatives' (DeSIRe). This paper presents the experiences of relatives of children with ß-TM of the DeSIRe following its use by PTPP field officers (FOs) in routine clinical practice. Fifty-four semi-structured qualitative interviews were conducted (April to June 2021) with relatives in seven cities in the Punjab province (Lahore, Sheikhupura, Nankana Sahab, Kasur, Gujranwala, Multan and Faisalabad). Thematic analysis shows that participants were satisfied with the content of the DeSIRe and its delivery by the FOs in a family meeting. They understood that the main purpose of the DeSIRe was to improve their knowledge of ß-TM and its inheritance, and to enable them to make decisions about thalassaemia carrier testing, particularly before marriage. Participants also raised concerns about the stigma of testing positive; however, they believed the DeSIRe was an appropriate intervention, which supported relatives to make informed decisions. Our findings show that the DeSIRe is appropriate for use by healthcare professionals in routine practice in a low-middle income country, and has the potential to facilitate shared decision making about cascade screening for thalassaemia. Further research is needed to prove the efficacy of the DeSIRe.

Cascade screening for beta-thalassemia in Pakistan: development, feasibility and acceptability of a decision support intervention for relatives.

The government-funded 'Punjab Thalassaemia Prevention Project' (PTPP) in Pakistan includes cascade screening for biological relatives of children with beta-Thalassaemia Major (ß-TM). However, there is low uptake of cascade screening. This paper presents the (i) development of a paper-based 'decision support intervention for relatives' (DeSIRe) to enable PTPP Field Officers to facilitate informed decision making about carrier testing, and (ii) assessment of the feasibility and acceptability of the DeSIRe. The intervention was developed using the International Patient Decision Aids Standards quality criteria and Ottawa Decision Support Framework. Twelve focus groups were conducted (September and October 2020) to explore the views of healthcare professionals (HCPs) and relatives of children with ß-TM, in six cities. The focus groups were attended by 117 participants (60 HCPs and 57 relatives). Thematic analysis showed that the DeSIRe was considered acceptable for supporting relatives to make informed decisions about cascade screening, and potentially feasible for use in clinical practice. Suggestions for changing some words, the structure and adding information about how carrier testing relates to consanguineous marriages will enable further development of the DeSIRe. Participants generally welcomed the DeSIRe; however, they highlighted the perceived need to use more directive language, hence showed a cultural preference for directive genetic counselling. The findings highlight challenges for researchers using western theories, frameworks, policies and clinical guidelines to develop decision support interventions for implementation more globally. Future research is needed to evaluate the use of the DeSIRe in routine practice and whether it enables relatives to make informed decisions.

Intrauterine Fetal Blood Transfusion (IUBT) for Rh Incompatibility - 12 Years' Experience from Pakistan.

OBJECTIVE: To determine the perinatal outcome of pregnancies complicated by Rh-alloimmunisation, requiring intrauterine blood transfusion. STUDY DESIGN: Observational study. PLACE AND DURATION OF STUDY: Feto-maternal Unit of Gene Tech Laboratory, Lahore, from 2007 to 2019. METHODOLOGY: A retrospective analysis was done on the data of cases of intrauterine, intravascular blood transfusion given to at-risk foetuses to correct foetal anaemia due to Rh-alloimmunisation or parvovirus B19. All cases, who were eligible to receive IUBT were included in the study. Cases where historic data was not available have been excluded. RESULTS: A total of 305 intrauterine blood transfusion (IUBT) procedures were performed on 127 foetuses. The gestational age ranged from 18-32 weeks at the time of referral. Infra-hepatic part of umbilical vein was preferred for transfusion, but in some cases of anterior placenta, the cord insertion was approached with exception of only two cases where intra-cardiac route was employed. In this study, 71.6% of the babies survived, 14.2% were loss to follow and 14.2% died. CONCLUSION: IUBT is a safe procedure, especially when performed by experienced hands, and helps save the foetuses at risk. Mothers with Rh-alloimmunisation should be referred before developing hydrops fetalis for better outcome. Key Words: Red cell alloimmunisation, Intrauterine intravascular blood transfusion, Foetal anaemia.

Attitudes towards non-invasive prenatal diagnosis among obstetricians in Pakistan, a developing, Islamic country.

OBJECTIVES: Stakeholders' views are essential for informing implementation strategies for non-invasive prenatal testing (NIPT). Little is known about such views in developing countries. We explored attitudes towards NIPT among obstetricians in Pakistan, a developing, Islamic country. METHODS: A 35-item questionnaire was distributed and collected at eight events (a national conference and seven workshops in five cities) for obstetric professionals on advances in fetal medicine. RESULTS: Responses from 113 obstetrician show positive attitudes towards implementation of NIPT: 95% agreed prevention of genetic conditions was a necessity, and 97% agreed public hospitals should provide prenatal screening tests. However, participants also agreed the availability of NIPT would increase social pressure on women to have prenatal screening tests and to terminate an affected pregnancy (53% and 63%, respectively). Most participants would not offer NIPT for sex determination (55%), although 31% would. The most valued aspects of NIPT were its safety, followed by its utility and then accuracy. CONCLUSION: Participants generally supported the implementation of NIPT but raised concerns about social implications. Therefore, national policy is needed to regulate the implementation of NIPT, and pretest information and post-test genetic counselling are needed to mitigate social pressure and support parents to make informed decisions. © 2017 John Wiley & Sons, Ltd.