Parental Knowledge and Attitudes Toward Expanded Newborn Screening to Include SCID Screening in Saudi Arabia: A Cross-Sectional Study

Introduction Severe combined immunodeficiency (SCID) newborn screening (NBS) has been successfully implemented in various countries using T cell receptor excision circles (TRECs) in dried blood spots. This innovative approach not only facilitates early diagnosis but also mitigates the risk of complications associated with live vaccines, such as the oral poliovirus vaccine and BCG, which can potentially cause disseminated infection in susceptible individuals. The prevalence of SCID in Saudi Arabia is likely to be elevated given the high rate of consanguinity, which further suggests the importance of including it to the NBS program. Methodology This descriptive cross-sectional study utilized a validated questionnaire to evaluate knowledge and attitudes regarding the expansion of NBS. The study included Saudi parents aged 18 and above, each with at least one child. A total of 242 parents completed the self-administered questionnaire. Parental knowledge of NBS was assessed using 12 true/false questions, with a score of 60% (7 out of 12), indicating sufficient knowledge. Attitudes were measured using a 12-item questionnaire on a 5-point Likert scale, with responses categorized as agree, uncertain, or disagree. Results The results revealed that 76.9% of parents had poor knowledge about NBS. Parents in healthcare occupations were associated with better knowledge (p < 0.001). Regarding SCID, 72.3% of parents lacked prior knowledge about the condition. Prior knowledge of SCID was associated with gender, educational level, and occupation, (p = 0.007, p = 0.004, and p < 0.001, respectively). Despite this knowledge gap, 82.2% of parents wanted their children to undergo NBS, although 48.8% expressed anxiety about potential positive screening results. A significant majority (87.6%) supported screening for SCID when it becomes available. Furthermore, while 86% indicated that the government should cover the costs of expanded screening, 69.4% expressed a willingness to pay out of pocket for the test. Conclusion This study reveals a significant knowledge gap among Saudi parents regarding NBS and SCID. However, the majority of parents express a desire for their children to undergo NBS and demonstrate strong support for the implementation of SCID screening, should it become available.