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Summit on Newborn screening for PWS

Summit on Newborn screening for Prader-Willi syndrome and other chromosome 15 abnormalities

Sunday April 3, 2022

Newborn Bloodspot Screening (NBS) refers to testing carried out on infants shortly after birth for specific disorders and health conditions.  Although NBS programs are in place in many countries, to our knowledge there is no country in which universal NBS for PWS is offered.

Much work has been undertaken in relation to the development of a cost-effective and accurate means of NBS for PWS. This session discussed recent developments and ongoing research as well as practical and ethical issues concerning NBS for PWS.

Please note this meeting is now concluded. 

    Presentation videos

    Dorica Dan, president Romanian Prader Willi Association, Romanian National Alliance for Rare Diseases, BoD EURORDIS

    “Newborn Screening: Harmonising approaches to NBS in EU” 

    Presented at IPWSO’s Summit Meeting on Newborn screening for Prader-Willi syndrome and other chromosome 15 abnormalities, Sunday April 3, 2022.

    Daniel J. Driscoll, MD, PhD, Professor of Pediatrics & Genetics, Hayward Professor of Genetics Research University of Florida College of Medicine, USA, IPWSO CSAB Chair

    “Overview of Newborn Screening (NBS) & Brief Discussion of Prader-Willi Syndrome” 

    Prepared in advance for IPWSO’s Summit Meeting on Newborn screening for Prader-Willi syndrome and other chromosome 15 abnormalities, Sunday April 3, 2022.

    Associate Professor David Godler, Group leader, Diagnosis and Development Laboratory, Murdoch Children’s Research Institute, Principal Fellow, Department of Paediatrics, University of Melbourne

    “Newborn screening for Prader-Willi Syndrome and other chromosome 15 abnormalities: Challenges and Opportunities” 

    Prepared in advance for IPWSO’s Summit Meeting on Newborn screening for Prader-Willi syndrome and other chromosome 15 abnormalities, Sunday April 3, 2022.

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