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.
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.
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.
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.
Newborn screening (NBS) expansion is once again gaining momentum in the United States with many disorders being considered due to promising new treatments, better testing methods and other factors that impact the decision making process. Three factors that have helped shape the NBS landscape in the U.S.
Dr. Yin-Hsiu Chien, director of the newborn screening center at the National Taiwan University Hospital, has made diverse contributions in the field of inborn errors of metabolism and immunodeficiency. Her team, lead by Dr Wuh-Lang Hwu is devoted to the diagnosis and treatment of lysosymal storage diseases (LSD). Dr. Chien’s current work focuses on Pompe disease, specifically on early diagnosis and improvement of treatment. Dr. Chien and her team have played an important role in making Taiwan’s newborn screening programs into one of the most developed newborn screening programs in the world.
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.