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A Pilot Study on an Expanded Newborn Screening Program in Palestine. Phase Ш

This pilot study explores the expanded newborn screening program in Palestine, focusing on metabolic diseases. It includes research objectives, methodology, results, and conclusion, indicating the need for further assessment of the existing program.

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A Pilot Study on an Expanded Newborn Screening Program in Palestine. Phase Ш

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  1. A Pilot Study on an Expanded Newborn Screening Program in Palestine. PhaseШ Genetics and Metabolic Diseases Center Faculty of Medicine/Al-Quds University SamirKhatib, PhD AmerAyyad,MSc

  2. Outline 1.Background Information 2-Justification of the study 3-Research Objectives 4-Methodology 5-Results 6-Conclusion

  3. PALESTINE

  4. Background Population : 4.5 million. 61% West Bank, 39% Gaza Birth Rate : 25.9/1000. Screening Program began in 1994. Tests done since then for PKU and Hypothyroidism. Methodology of testing for Phe and TSH : ELISA.

  5. Background ….. Statistics for 2013 (MoH): PKU 63,430 samples 21 positive TSH 57,607 samples 27 positive

  6. Background ….. Positive Experience: • Government commitment. • Public awareness. • Coverage nearly 100%.

  7. Background ….. Constraints: • Government priorities. • Financial burdens. • Limited resources. • Lack of data. • Limited management/treatment .

  8. Justification of the study Until this day newborns in Palestine are being screened for PKU and CH only. However, a number of other metabolic diseases have been recognized amongst the population. This pilot study was conducted in an effort to investigate the possibility of finding such cases in newborns throughout the West Bank of Palestine. In previous phases (I and II) of the study some amino acids and organic acids levels were examined in blood samples of newborns. In the present phase (III) some acylcarnitine profiles of different fatty acid oxidation disorders (MCAD, MAD, LCHAD and VLCHAD) are reported.

  9. Research Objectives *To assess the expanded screening tests among newborns of Palestine. *To investigate the relationship between some demographic variables such as gender, kinship, district, and weight with fourteen acylcarnitine levels. *To establish the reference ranges for fourteen acylcarnitines of different fatty acid oxidation disorders intermediatesfor the Palestinian newborns.

  10. Methodology *Study Design, Setting, and Sample Selection A cross-sectional observational study design was used and the study covered all 12 districts of the West Bank during the period between January 2012 and January 2013 where 4240 samples were collected. Convenience sampling was used to recognize study participants of newborns. A pilot study was conducted before the actual study took place and informed consent was taken from each parent participant.

  11. *Data collection method Participating groups in the study and their respective roles 1 - The Palestinian Ministry of Health Provided health information for this study, in addition to collection of 80 samples from all the districts on a weekly basis for the duration of the study(one year). 2 – Liege University/ Human Genetics Department, Belgium Its role was primarily to receive, analyze and send results for the collected samples to GMDC at Al-Quds University. Sample analysis was done by tandem MS/MS. 3 - GMDC/ Al-Quds University A)Coordinated with the Palestinian MoH and Liege University. B)Accumulated and analyzed all data for each collected and tested card .

  12. *Data Analysis Statistical Package for Social Sciences (SPSS version 20) was used. The reference range for each acylcarnitine level was calculated based on non- parametric percentile method (CLSI (C28-A3)*).Statistical relation between acylcarnitine levels and some of the demographic variables such as gender, kinship, weight, and district were examined by different statistical methods. P-values were considered statistically significant at (P=<0.05). *Clinical and Laboratory Standards Institute, Approved Guideline—Third Edition (C28-A3), 2008.

  13. Results

  14. Distribution of Newborns by Gender

  15. Distribution of Newborns by Kinship

  16. Differences in the mean weight by Gender

  17. Normal values for Acylcarnitines as provided by Liege University/Human Genetics Department

  18. Reference range of Acylcarnitines based on Non- parametric percentile method CLSI (C28-A3)

  19. Distribution of Newborns by Acylcarnitine levels (Normal & Abnormal)

  20. Distribution of Newborns by Different Status of Abnormal Acylcarnitine Levels

  21. Relationship between Kinship and Mean Acylcarnitine Levels

  22. Relationship between Gender and Mean Acylcarnitine Levels

  23. Relationship between Mean Weight and Acylcarnitine Levels

  24. Relationship between District and Acylcarnitine Levels

  25. Relationship between District and Acylcarnitine Levels(cont.)

  26. Relationship between District and Acylcarnitine Levels(cont.)

  27. Conclusion *Based on our established reference ranges for each analyte the results showed that 28.8% of the tested samples (1219) had at least one acylcarnitine level in the upper 2.5% of the population. *There is a significant difference between some acylcarnitine levels and mean weights. *There is a significant difference between some acylcarnitines mean and gender and also some acylcarnitines mean and kinship. * There is a significant difference between districts in some acylcarnitine levels. * The study results support further assessment of the need to expand the existing NBS program in Palestine.

  28. Acknowledgment 1. Liege University / Human Genetics Department Prof V Bours, Dr R Schoos and Dr F Boemer. 2. Palestinian Ministry of Health

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