Articles and resources

In this webinar, the father of FMF pre-eclampsia prediction models, Professor Kypros Nicolaides provides his insights to current developments and future prospects in this field. As one remarkable milestone in the journey from invention to implementation of pre-eclampsia screening is the first recommendation in public health to offer preterm pre-eclampsia screening to all women in Ontario, Canada.

Heidi Wallis - the Executive Director of the Association of Creatine Deficiencies, discusses the importance of newborn screening, and the potential impact it can have. Heidi discusses her own experiences as a parent of a child with GAMT.

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.

The lecture entitled “Clinical Validation of Fetal cfDNA Analysis Using Rolling-Circle-Replication and Imaging Technology in Osaka (CRITO Study) ” was presented by Dr Ritsuko Pooh at the 8th World Congress on Controversies in Preconception, Preimplantation and Prenatal Genetic Diagnosis (CoGEN) in 2021.

The lecture entitled “Implications of fetal fraction measurement variability in NIPS” was presented by Dr Fredrik Persson at the 2021 International Society for Prenatal Diagnosis (ISPD) conference.

Professor Jon Hyett, Head of High-Risk Obstetrics and a Senior Staff Specialist in Obstetrics, and Maternal and Fetal Medicine Royal Prince Alfred Hospital, Sydney, Australia

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.