The field of Newborn Screening (NBS) has come a long way since the days of Dr. Guthrie and the introduction of PKU screening in the 1960s. Most developed countries now have expanded NBS programs covering a range of disorders, many of which are population based. In many developing coun- tries, due to a number of factors, the role of expanded NBS programs is often left to the private sector and for those who can afford to pay for the test.
Flavia Balbo Piazzon graduate in medicine at Faculdade de Medicina de Marília (2002). PhD on Pathology and Genetics at FMUSP. Inborn Errors of Metabolism and Newborn Screening consultant at APAE DE SÃO PAULO. Clinical Geneticist with experience in Pediatrics, Medical Genetics, Rare Diseases and Inborn Errors of Metabolism.
Abstract Background: The recently completed Uganda Sickle Surveillance Study (US3) documented a high prevalence of sickle cell trait (13.3%) and disease (0.7%) among 97361 HIV-exposed infants and toddlers, with non-uniform geospatial distribution across the country. However this survey was done among HIV exposed infants. Following US3, the Uganda Ministry of Health began a prospective targeted newborn hemoglobinopathy screening program to (1) confirm trait and disease estimates within high-burden districts; (2) compare the prevalence among both HIV-exposed and non-exposed chil- dren; (3) validate the proposed HIV co-morbidity; and (4) demonstrate the feasibility of conducting targeted new born screening program in a resource limited setting.
Children born with the rare SCID disorder can be cured with bone marrow transplantation or gene therapy. However, without the benefit of early detection, lives are lost. Bobby Gaspar, Professor of Pediatrics and Immunology at University College London, is working towards implementing
“Newborn screening is not simply buying a kit or a machine; it’s a whole approach of analysis and interpretation. Now, it’s time to convince the authorities to move forward”, says Dr. Issam Khneisser, NBS pioneer in the Middle East and North Africa (MENA) region.
A video created in South Africa with the support of the Newborn Screening Laboratory at North-West University and the Technology Innovation Agency addresses the lack of neonatal screening in South Africa. Through the stories of three South African families whose babies could have been saved permanent disability and even untimely death, the video urges all mothers to make sure their babies are screened.
Like many Asian countries, India has welcomed newborn screening (NBS) as a valuable public health programme for the detection of congenital disorders and improvement of infant mortality rates. Although steady progress has been made, screening is not yet available to most of the 26 million babies born yearly in India. PerkinElmer is committed to helping chart a course that will change this. Following global trends in neonatal screening, India has been training physicians to screen for physical birth defects, and many states within India are now launching similar pilot programs of their own. Biochemical testing for inborn error of metabolism (IEMs) is anticipated to follow with rising local awareness on the importance of improving child health outcomes. A major challenge is to recognize that newborn screening is not merely a test, but a whole system of sample collection, quality control, training, treatments, and therapies. PerkinElmer has been supplying pediatricians and hospital staff in India with maternal fetal health and NBS solutions since 2009. In an ETHealthworld interview, Linh Hoang, vice president of Neonatal Screening Diagnostics at PerkinElmer, provides a glimpse into how the company’s vision for India is currently unfolding.
The NBS Program in the Philippines started out as a pilot project involving 24 hospitals in the country’s capital region. It took some time for the newborn screening program to be successfully integrated into the national health program through the Philippine Newborn Screening Act of 2004. Almost two decades after the pilot project, the program was deemed ready for the expansion from screening for six disorders to screening for more than 20 disorders. The presentation from Dr. Melanie presents the challenges of implementing an expanded newborn screening program in a developing country like the Philippines and the conditions identified in the first phases of offering the service.