Newborn Screening workshop

NBS (Newborn Screening) samples are collected shortly after birth to screen infants for various genetic, metabolic, and congenital disorders..

Challenging cases of NBS for inborn errors of metabolism often involve disorders with subtle or overlapping symptoms, making accurate diagnosis complex. These cases may require advanced screening methods, confirmatory testing, and multidisciplinary collaboration among clinicians, geneticists, and laboratory specialists. Additionally, challenges may arise when interpreting results due to variations in metabolic markers or genetic mutations. Timely intervention is crucial to prevent long-term complications, highlighting the importance of vigilant monitoring and follow-up in these cases.

Challenging cases of NBS for endocrine disorders involve conditions with variable or nonspecific symptoms, leading to difficulties in early detection. These disorders often require comprehensive hormonal testing and clinical evaluation to confirm diagnosis. Additionally, some endocrine disorders may present with normal initial screening results but manifest later in infancy or childhood, necessitating ongoing surveillance. Multidisciplinary collaboration between pediatricians, endocrinologists, and laboratory experts is essential for accurate diagnosis and timely intervention to optimize long-term health outcomes in affected infants.

Challenging cases of NBS for blood disorders encompass conditions such as sickle cell disease, thalassemia, and various hemoglobinopathies. These disorders can present with subtle symptoms early on, making accurate detection via NBS critical. Challenges arise due to the diverse genetic mutations underlying these conditions and the potential for false-negative or false-positive results. Confirmatory testing, including hemoglobin electrophoresis and genetic analysis, is often necessary to establish a definitive diagnosis. Additionally, ongoing monitoring and coordination between hematologists, genetic counselors, and healthcare providers are essential for comprehensive management and support of affected infants and their families.

This workshop is availble online

• Theoretical lectures will be held in Madina, Saudia Arabia
• Hands on will be held in Madina, Saudia Arabia

Free