Articles and resources

We are very excited to announce the World View Newborn Screening Summit 2022 from 28-30th June in conjunction with International Neonatal Screening Day. There will be discussion around the latest advances in screening, but also hearing from those projects initiating new screening services. This event will have over 20 presentations from participants from 11 different countries. The sessions will be live streamed during the event and will be available ‘On-Demand’ after the event for those who register. Registration for the World View Newborn Screening Summit is free, and there will be opportunity to submit questions during the event to the speakers.

Duchenne muscular dystrophy (DMD) is a rare, X-linked pediatric neuromuscular disease with onset in early childhood, leading to progressive loss of function. With life-altering treatments on the near horizon, there is a growing need to identify boys born with Duchenne in order for them to benefit from the emerging therapies as early as possible. See our videos for clinical aspects of DMD, insights on early detection, setting up a screening pilot, and more.

In her enlightening presentation, Dr. Venée N. Tubman takes a historical perspective on our understanding of Sickle Cell Disease. From African folk beliefs and oral histories, to early clinical observations in the 19th century, to the first newborn screening efforts in the USA in the 1970s, to the present challenges in sub-Saharan Africa. Dr. Tubman discusses how newborn screening could make a great difference in future decades, and what potentially lies ahead. See the presentation for great insights on SCD.

Nigeria is severely burdened by Sickle Cell Disease, with an estimated of 150,000 babies born with SCD each year. Many infants do not reach adolescence, however about 70% of deaths could be prevented with low-cost diagnostic and treatment plans. In her presentation, Professor Obiageli Nnodu discusses the future hopes for Nigeria, including ongoing newborn screening projects and learning ways to develop and expand screening programs.

More than 300,000 babies are born with Sickle Cell Disease (SCD) each year in sub-Saharan Africa, many resulting in death by the age of five. The Consortium on Newborn Screening in Africa (CONSA) and their network of partners are taking life-saving action by demonstrating the effectiveness of early intervention. The aim to screen up to 10,000–20,000 babies per country annually and to provide clinical follow-up for SCD-positive babies. See a presentation by Dr. Maureen Achebe to learn more.

In a recent case in India, a child was diagnosed with simultaneous Pompe disease and spinal muscular atrophy (SMA). See Dr. Priyanshu Mathur’s presentation to learn more about the rare case and how the child was identified for treatment.

Early diagnosis of lysosomal storage disorders is essential for better patient outcomes. In her presentation, Dr. Francyne Kubaski of the Medical Genetics Service of Brazil shares the learnings from an LSD newborn screening pilot study using tandem mass spectrometry. The study was conducted using PerkinElmer’s NeoLSD ™ MSMS kit, which enables screening of up to six lysosomal storage disorders from a single blood spot punch. See the video to learn more.

It’s technically possible to produce high-quality genomic sequencing data from blood spot cards used in newborn screening. However, there are cost considerations, ethical issues as well as limitations in infrastructure and human resources to delivering genomic sequencing at scale. What additional value would genomic sequencing bring to newborn screening? For fresh insights, see the presentation by Professor John Christodoulou of the University of Melbourne Department of Paediatrics.

In her presentation, Professor Mei Baker of the University of Wisconsin Department of Pediatrics discusses the state of molecular testing in newborn screening. Wisconsin’s screening program covers 47 disorders, including hemoglobinopathies, fatty acid disorders, amino acid disorders and the latest addition, Spinal Muscular Atrophy (SMA). Click below to learn some of the latest results and insights in molecular testing.