Ghassan Abdoh

TL;DR: The study offers a reliable method for newborn screening for cystathionine beta-synthase deficiency, reaching a sensitivity of up to 100%, even if samples are taken within the first 3 days of life.

TL;DR: A reliable screening for classical homocystinuria showing a unique incidence of >1:3000 and for sickle cell disease has now been added, revealing a high incidence of treatable inborn metabolic diseases in the population of Qatar.

TL;DR: First‐line molecular neonatal screening is technically feasible and may be developed as an option for presymptomatic identification of genetic disorders caused by specific mutations or a limited number of prevalent mutations, however, sensitivity for the diagnosis of disorders cause by various mutations is limited even in a homogeneous population such as Qatar.

TL;DR: The results of a new statistical approach to identify parameter combinations that allow for 100% sensitivity as well as increased specificity for newborn screening for disorders of propionate metabolism are reported.

TL;DR: A new optimized newborn screening strategy for remethylation disorders and homocystinuria was developed and evaluated for newborns from Qatar and an adapted second-tier strategy is presented for screening in Germany and will be prospectively evaluated over the next years.