Date of Award

11-4-2024

Degree Type

Thesis

Degree Name

Master of Science in Nursing (MScN)

First Advisor

Ms. Arusa Lakhani

Second Advisor

Dr. Zahra Hoodbhoy

Third Advisor

Dr. Salman Kirmani

Department

School of Nursing and Midwifery, Pakistan

Abstract

Background: Genetic and Rare diseases are gradually weakening and life-threatening medical conditions that affect a small number of the population. Genetic and Rare diseases affect 400 million people globally. Prenatal diagnostic genetic testing stands as a pivotal intervention in alleviating the considerable burden imposed by Genetic and Rare diseases, especially in resource-constrained settings such as Pakistan (Cohen‐Kfir et al., 2020).
Objectives:The study aimed to understand the couple’s knowledge about prenatal diagnostic genetic testing. Also, identify facilitating and hindering factors influencing the decision to opt for prenatal diagnostic genetic testing.
Methodology: The study employed an exploratory descriptive qualitative research method to explore the couples’ perceptions of prenatal diagnostic genetic testing at a private tertiary care hospital in Karachi, Pakistan. The purposive sampling technique was utilized to include participants in this study. Couples coming to genetic clinic were recruited for the study. Written informed consent was obtained from the participants who met the inclusion criteria and volunteered to participate. Data collection from 14 couples was done till saturation achieved.
Findings:Five major themes extracted were (1) knowledge gap and accessibility of information, (2) Sociocultural and religious influence, (3) Support networks and relationships, (4) Interaction with healthcare providers, and (5) Emotional wellbeing and mental health. Our findings also v highlight that decision-making is influenced by factors such as risk perception, personal values, and financial considerations. Interactions with healthcare providers significantly affect couples experiences, with communication styles, referral systems, and empathy playing crucial roles. The impact on relationships varies, with both supportive and conflictual outcomes observed, while socio-cultural factors such as cultural beliefs and socioeconomic status shape attitudes toward prenatal diagnostic genetic testing. The study also addresses implications for policy and practice, acknowledges limitations, and suggests areas for future research to enhance understanding and improve genetic testing experiences.
Conclusion: This study delves into Pakistani couples' perspectives on prenatal diagnostic genetic testing, examining their knowledge, anxieties, coping mechanisms, and decision-making processes amid challenges like poverty, limited healthcare access, and cultural norms such as consanguineous marriages. Findings aim to guide healthcare providers in delivering compassionate care and shaping policies to improve outcomes for those who are at high risk to get affected by genetic and rare disorders in Pakistan.

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