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 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.
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.
“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.
PerkinElmer® Genetics, located just outside of Pittsburgh, Pennsylvania, has been providing newborn screening services for over 20 years. During that time, the laboratory has processed close to six million samples using biochemical, molecular and mass spec based technology while partnering with the states of Pennsylvania, Mississippi, Nebraska, Louisiana and the District of Columbia. In 2010, PerkinElmer Genetics started offering a 6-plex assay to test for Gaucher, Niemann-Pick, Krabbe, Hurler-MPS-I, Pompe and Fabry lysosomal storage disorders. More recently, they completed the development and validation of tests for MPS-IVA and VI. Work is also underway to add testing for Adrenoleukodystrophy (X-ALD) with the goal to being able to offer all these tests as part of their StepOne® Newborn Screening, a “Lab in a Lab” or as back-up testing for labs that experience unplanned outages. For more information, please contact PJ Borandi at PJ.Borandi@PerkinElmer.com.
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.