Newborn screening (NBS) programmes detect inherited disorders, including inborn errors of metabolism, before a baby shows symptoms, so that treatment can start early. Running a programme needs a multidisciplinary team of neonatologists, nurses, biochemical geneticists, endocrinologists, laboratory staff, NBS coordinators and metabolic dietitians.
This manual sets out what is needed to establish and maintain an NBS programme, drawing on newborn screening in Saudi Arabia, where high rates of consanguinity make autosomal recessive disorders common. It covers each step from blood sampling to the management of screened disorders, with clinical algorithms and multiple choice questions for self-assessment.
Contents
- Newborn screening programs in Saudi Arabia
- Stakeholders of NBS
- Blood sampling
- Interpretation of abnormal results
- False positive and false negative results
- Clinical algorithms of NBS programs
- Summary of screened disorders
- Management of screened disorders
- Criteria for including a disease in NBS programs
- Key performance indicators for NBS programs
- Multiple choice questions
About the lead author
Prof. Majid Alfadhel MD, MHSc, SSC-Ped, ABHS(CH), FCCMG
Deputy Executive Director, King Abdullah International Medical Research Centre
Chairman, Genetics and Precision Medicine Department (GPM)
Director, Medical Genomic Research Lab
King Saud Bin Abdulaziz University for Health Sciences
King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia
Co-authors: Saif Al Saif MD, FRCPC, ABP, and Abdullah Al Zaben MD, FRCPC.
The full book is free to download as a PDF.