China NBS program formally started in 1983, even small pilot study since 1981.During the past 35 years, China has achieved great progress in newborn screening, no matter in uptake rate but also in expanding screening program. By 2017, overall uptake rate for CH and PKU screening was >96%. This is a great number if you take the newborn number in China is 17 M every year. Currently CH/PKU and hearing loss are included as national wide screening program, which is also mandatory for all newborn.
In this presentation, the mother of a boy diagnosed with Duchenne Muscu- lar Dystrophy will discuss her experience with newborn screening and the immediate impact it made on her family. She will talk about the challenges of being diagnosed ahead of a universal therapy, and share her thoughts about the pros and cons of giving parents an early diagnosis of a terminal disease.
It took more than a month to properly diagnose our second son, Artur Bucar Santos. The odyssey started in 2002 in a poor region in Brazil and ends in Pittsburgh, Pennsylvania in the Northeast of the United States. In August 2005, my son Artur was the first Brazilian cured from Maple Syrup Urine Disease, or MSUD for short. Unlike most stories of children born with a rare disease in Brazil, ours ends with a happy ending.
When my brother was born, I had no idea of what was happening. Why was everyone only caring about him as if I did not exist and why did we have to move from my home country to a place very far from my friends. With strong family support I overcame my obstacles and today, more than ever, I am focused in helping other families like mine.
The Vietnam newborn screening scheme was officially started in 2007 by The General Office of Population and Family Planing. The objective was to raise community awareness and set up networks of new- born screening service all over the country. Screening tests were not covered by public insurance system; therefore, the scheme paid the screening G6PD deficiency and congenital hypothyroidism for the poor and remote area resi- dents while local governments helped hospitals and health centers socialize the screening for other people.
The increasing availability of treatments and the importance of early inter- vention have stimulated newborn screening (NBS) for lysosomal storage dis- eases (LSDs). We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases.
Duchenne muscular dystrophy (DMD) is an X-linked disorder character- ized by rapid progression of muscle degeneration that occurs early in life. The incidence rate is estimated at 1 in 3500 boys worldwide. The effective emerg- ing treatment methods and strategies have results in growing interest of dis- cussion regarding newborn screening (NBS) for DMD.
Spinal muscular atrophy (SMA) is one of the most common lethal reces- sive genetic conditions, with an incidence of 1 in 10,000 births. The con- dition is associated with significant motor disability, respiratory and nutri- tional compromise, and death in infancy or childhood in more than 50% of affected children.
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.
Severe combined immunodeficiency (SCID) is a life-threatening disease characterized by a disturbed development of T and B cells. SCID can be screened by measuring T-cell receptor excision circles (TRECs), a marker of normal T lymphopoiesis. Newborn screening (NBS) for SCID has already been initiated in several countries to save 1 in 60,000 newborns carrying this disease.
Introduction: Lysosomal storage disorders (LSD’s) are a group of more than 40 disorders caused by the specific deficiency of enzymes (& co-factors) within the lysosome. This leads to the accumulation of substrates, lipids, sphingolipids and mucopolysaccharides resulting in organelle and cellular dysfunction and the pathology in the LSD’s. The estimated incidence has been determined to be as high as 1 in 7,000 in the Australian population (1), even higher in certain ethic groups.
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.
Duchenne muscular dystrophy is one of the ten most severe and common pediatric genetic diseases and affects an estimated 1 in every 5000 male births. While Duchenne muscular dystrophy is still a 100% fatal disease, the clinical community has demonstrated that immediate identification and early clinical interventions can add years, even decades to an individual’s life span.
The World Health Organization has recently issued directives for countries in sub-Saharan Africa to develop newborn screening, and to establish care and treatment programs, but most countries lack training and expertise. Over the past four years, Dr. Russell Ware has worked with teams in Angola and Uganda to develop pilot newborn screening programs for SCD.
Visit ZB Foundation homepage » Zahra Beau Naqvi, was born with a metabolic, incurable disease that left her in intensive care, fighting for her life. Zahra could have beaten the disease and gone on to live a normal, healthy life if doctors had performed just one simple ‘heel prick’ test to identify the disorder. From this painful experience came the birth of the ZB Foundation, set up by her parents to give other babies the chance that Zahra never had.
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.
Severe combined immune deficiency (SCID) was proposed as a potential candidate for universal new born screening as early as the 1970s, but only recently has the technical and political ability to implement universal SCID screening been possible. Among the first states to pilot new born screening for SCID using T cell receptor recombination excision circles (TRECs), California has been able to screen almost two million infants in its first four years of screening. This program has provided a detailed and relatively unbiased assessment of the clinical manifestations of SCID, its incidence, and the genetic epidemiology of the disease. 87% of those infants identified by screening survive through transplant. Screening has resulted in earlier transplant of patients with SCID prior to the emergence of opportunistic infections, improving outcomes and helping to ensure that all children at risk have access to life-saving therapy. While screening for SCID has significantly improved the ascertainment and outcome for most cases of profound T cell lymphopenia, there are important causes of PID that remain undetected by existing screening, and these are excellent candidates for future investigation and possibly for new screening modalities. In addition, improvements in the uniformity and systematic means of transplanting these infants should become an important focus.