Reflective Note: Establishing Newborn Screen Services at AKUH and its impact​​​

Azeema Ja​​​mil, Charge Techno​​logist​

Department of Chemical Pathology and Laboratory Medicine​​​​

I wanted to share my journey in developing the newborn screening initiative and share some insights into the outcomes it has yielded. The process of developing the newborn screening program has been both challenging and rewarding. It required meticulous planning, coordination, and collaboration with a multidisciplinary team. I remember the countless hours spent researching best practices, analyzing potential biomarkers, and fine-tuning the screening protocols to ensure their accuracy and feasibility. I learned that good teamwork is the key to success in design activities when time and resources are limited. As everyone had their own point of view, many different ideas could be produced, and I found the energy of group participation made me feel more energetic about contributing something.

One of the most gratifying aspects of this endeavor has been visiting one-month observational training at Mayo-Lab USA in 2018 during my visit I observed the advanced technique of LCMSMS, High-Performance Liquid Chromatography (HPLC), and spectrofluorometric methodology to develop newborn screening tests also sit in on several case interpretation sessions where I had the opportunity to discuss cases with our on-call fellow and consultant of Mayo-Lab.

The successful implementation of the newborn screening program including the test of dried blood spot (DBS)-Neonatal TSH, 17-hydroxyprogesterone, and expanded metabolic profile of selective amino acid and acylcarnitine has led to early detection of various congenital conditions including congenital hyperthyroidism, congenital adrenal hyperplasia and 12-specific disorder related to amino acid and acylcarnitine enabling timely interventions and treatments.

Throughout this journey, I learned the true essence of determination and strength. There were moments of doubt and obstacles that seemed insurmountable, but these challenges only fueled my determination to make this initiative a reality. The unwavering support of my colleagues, mentors, and stakeholders played an instrumental role in keeping the momentum alive.

First and foremost, I would like to extend my deepest appreciation to our esteemed faculty members who served as mentors and guides throughout this process, your wisdom, guidance, and willingness to share your expertise have been invaluable and to my incredible team their dedication, expertise, and tireless efforts have been the driving force behind the successful implementation of the newborn screening program.

The data collected from the newborn screening program has provided invaluable insights into the prevalence of certain conditions within our population. This information has not only facilitated evidence-based decision-making but has also paved the way for further research and advancements in the field of pediatric health.

As I reflect on this journey, I am reminded that the impact of our efforts extends far beyond the confines of a laboratory or a screening test. We are making a difference in the lives of families, ensuring that every newborn has the opportunity for a healthy start.

Thank you for your unwavering support and belief in the importance of this initiative. I look forward to the continued growth and success of our newborn screening program.​