Expanded Newborn Screening Programs in Saudi Arabia; A Questionnaire-Based Study

The newborn screening procedures are also known as public health programs as they help in diagnosing disorders that may not be identified before being manifested, clinically. The study aims to understand the significance of expanded newborn screening programs in Saudi Arabia. The study has conducted a cross-sectional survey by selecting 324 medical professionals from the clinics of the Clinical Genetics Department at King Faisal Specialist Hospital and Research Centre (KFSH&RC). The data was analyzed in the form of frequencies and percentages using SPSS version 20.0. The results have shown that 52.5% post-graduates agreed that NBS was an effective tool for better diagnosis; whereas 50% surprisingly mentioned that NBS is not an effective tool for diagnosis. Moreover, 85.8% post-graduate professionals agree that they can diagnose infancy impairments through NBS. Similarly, 30.4% nurses agree that they can diagnose infancy impairments through NBS. The findings have indicated that 45.7% post-graduate professionals agree that they can identify diagnostic problems related to surgeries. The study has concluded medical healthcare professionals are responsible for interacting with several newborn screening stakeholders, which include practices and healthcare providers, newborn screening treatment centers, families of infants screened, and prenatal educators assuring smooth execution of the newborn screening system. Expanded Newborn Screen ing Programs in Saudi Arabia; A Question-naire-Based Study. Biomed J Sci & Tech Res 32(1)-2020. BJSTR. MS.ID.005184.


Introduction
The screening programs in Saudi Arabia are limited to ensure long-term management, because mostly programs are responsible for screening and diagnosis of certain diseases [1]. A single test is allowed within the expanded newborn screening for early diagnosis and treatment of the concerned disorder, which may help in preventing serious health consequences. The newborn screening programs in Saudi Arabia are important as they provide coordinated and comprehensive system comprising of screening, diagnosis, treatment, management, and follow-ups. The main aim of this strategy is to bring about better outcomes for the newborns suffering from various disorders [2]. Efforts are needed by the professionals to overcome significant problems, despite of the widespread acceptance of newborn screenings. It is believed that the evolution of newborn screening capabilities may face multiple challenges.
There is a lack of comprehensive screening programs to diagnose congenital diseases of newborn infants at national as well as regional level in Saudi Arabia. It is important to modify the comprehensive newborn screening programs based on the availability of the needs and resources. The screening programs are important to diagnose diseases such as the occurrence of abnormal hormones, congenital hypothyroidism, dehydrogenate deficiency, abnormal hemoglobin, incompatible blood groups, or the deficiency of glucose-6-phosphate dehydrogenase (G6PD) [3]. The screening programs require several modifications as encountered during the operation of infectious diseases. Various clinical symptoms are exhibited by inborn errors of metabolism, which comprise of heterogeneous and complex group of mono-genetic disorders.
This takes place in the form of genetic code, which results in decreased activity of an enzyme functioning in a single pathway of intermediary metabolism [3]. DOI: 10.26717/BJSTR.2020.32.005184

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The major causes leading to morbidity and mortality within the clinical practice are important due to the association of several consequences with the inborn errors of metabolism, especially in pediatrics. The adverse disease outcomes result due to delay in diagnosis and treatment of certain disorders, which may include mental retardation, neuropsychological dysfunction, and death.
Screening programs among the newborns are important as they help in identifying the infants suffering from serious inherited disorders that may be metabolic in origin. Some of the disorders diagnosed through screening can be treated through drug and dietary interventions before they lead to significant morbidity and mortality [4]. Therefore, the newborn screening programs are presented as a major advancement in child health care [5].  A recent study of Alfayez et al. [11] has demonstrated that increasing the awareness of screening programs require informing the parents about the screening benefits as well as its process based on the believe that adequate knowledge might improve the response for additional testing. Tu et al. [12] have supplemented that providing false positive screening results increase the parent's anxiety and stress for infants who are required to undergo more follow-up test, despite confirmation of the good health. Although, the recognition of pre-screening education of parents is considered as a crucial factor, little information about NBS shared with parents may still be oblivious to the screening of their baby. For instance, Abed [13] has revealed low awareness of mothers about NBS; however, their attitude was observed to be positive for NBS test.
In Saudi Arabia, Al-Sulaiman et al. [5] have demonstrated the concerns of Saudi mothers concerning the improvement in the availability of the educational materials, and its awareness. Bakr et al. [15] have indicated that despite the execution of the mandatory program for Saudi national premarital screening (PMS), there exists a substantial need to escalate the awareness of the parents, particularly mother along with its screening time.
The availability of the adequate medication, communication, genetic counselling, and awareness about the test and education materials is hindered among the Saudi women [11]. However, the newborn screening was done in the three major cities of Saudi Arabia but by only three institutes among which were from the same city. Thus, the country should generalize the panel for newborn screening in the country. Therefore, the present study aims to understand the significance of expanded newborn screening programs in Saudi Arabia. It is well established that the newborn screening programs are helpful in reducing the overall costs and improve the outcomes. To the best of the researcher's knowledge, this study is the first to assess the significance of the   (Table 1).

Data Collection and Analysis
After obtaining information from the respondents, the questionnaires were coded and entered into Statistical Package of Social Sciences (SPSS) version 20.0. The data was analyzed in the form of frequencies and percentages. Moreover, inferential tests were attempted to analyze the data for significance testing.

Results
Both male and female healthcare professionals have responded purposively in this study, acknowledging that NBS is an important tool for the diagnosis at early phase. healthcare professionals were having an experience of 0-5 years.     Table 5 has presented medical professionals' perceptions toward diagnostic problems identified through NBS. The findings have indicated that 45.7% post-graduate professionals agree that they can identify diagnostic problems related to surgeries.
Moreover, 37% nurses agree that they can identify diagnostic problems by using NBS.

Discussion
The study has provided an in-depth information about the healthcare professionals' perceptions toward diagnosis using newborn screening programs. Post-graduates have found NBS as an effective tool for diagnosis. Moreover, nursing professionals and allied healthcare professionals also found NBS as an effective tool for diagnosis. In this regard, the findings of Zuckerman15 are in-line with the findings of the present study that NBS program is assessed as an independent and stand-alone program for diagnostic problems.
The use of NBS program has been well-established in improving the well-being of the baby and medical care of the newborn. In a similar context, Christoffel et al. [16] have supported the present study findings and stated that allied health professionals, nursing staff,

Implications
The findings of the study have suggested to heighten the public awareness about the NBS programs, which are found to be limited in Saudi Arabia. For expanding the NBS programs, it is essential to attain the public view which can provide new insights for the NBS expansion. Consequently, the study contributes as a platform for instigating the awareness campaigns for the professional societies to pose a strong and lasting influence on the professionals as well as the public. Also, the study suggests that these campaigns can lead to the incorporation of the newborn screening in the educational curriculum of the professionals and can also escalate the public acceptance toward the newborn screening.
The educational campaigns are required because the population of the developing countries is generally reachable through various public media such as online platforms, radio, television, and newspapers. Therefore, it suggests the NBS advocates to avail the opportunity of participation on the radio, and television shows and also execute an online campaign within the country. Previous research conducted in Philippine has also endorsed the significance of extensive media campaign for influencing the NBS initial activities [24]. Moreover, the progression in the smart devices has also aided in improving the educational endeavors pertaining to the population while also assisting to identify the children who have been screened through newborn screening program.
Since the screening of the newborn will be a national program; therefore, the initiated educational campaigns and programs must be consistent with the existing governmental system. The support of the health ministry can play a vital role in initiating these NBS programs within the country government hospitals are supervised by the department. Thus, by using a similar supervisory infrastructure, a mechanism can be created which spreads newborn screening opportunities in the remote area as well. Also, the practitioners should discuss the issues of parental education, communicative outcomes, and the process of informed concerns at various forums.

Conclusion
The study has aimed to understand the significance of expanded newborn screening programs in Saudi Arabia. The results depicted positive response from majority of the healthcare professionals regarding the effectiveness of NBS for better diagnosis. There was a positive association between the expansion of newborn screening programs and its impact on newborn in Saudi Arabia. Therefore, it has been concluded that medical healthcare professionals in King Faisal Specialist Hospital and Research Centre are responsible for interacting with several newborn screening stakeholders, which include practices and healthcare providers, newborn screening treatment centers, families of infants screened, and prenatal educators that assure smooth execution of the newborn screening system.
The study has suggested the policy makers to include an internal hospital NBS protocol for maintaining an inventory of NBS supplies, which include forms, educational materials, and cards for increasing parents' awareness. Secondly, medical professionals should record and enter the NBS card number on the electronic birth certificate to maintain tracking logs and screening results.
Qualitative assessment of expanding newborn screening programs should be conducted for academicians and future studies to provide a more comprehensive understanding of the significance of the program. The future studies need to conduct comparative analysis in different cities of Saudi Arabia to assess the perceptions of both parents and medical professionals toward the NBS program.