A-350 Incidence of newborn disorders in private sector in Saudi Arabia

Abstract

The purpose of newborn screening program to eliminate disabilities to reduce rates of morbidity and mortality. Previous studies showed that the incidence of newborn diseases in Saudi Arabia is 1/1000 births. Most of these reports from public governmental hospitals. In our study we are reporting of the incidence of newborn diseases in private sector. A retrospective data ascertained from the Electronic Patient Medical Records database (VIDA) from January 2024 until December 2025 for all results of newborn. Dry blood spot (DBS) cards were received from new babies from 12 hospitals of Dr Suliman Alhabib medical group (HMG) over the country. Samples were analyzed at the Medical diagnostic reference laboratory (MDLab) of that belongs to HMG, Riyadh, Saudi Arabia. The instruments that used for screening were VICTOR2D Revvity ( Waltham MA,USA) which uses fluorometry immunoassay and LCMSMS tandem Waters (Framingham, MS, USA). A total of 26,063 and 34,592 DBS samples were analyzed with confirmed positive samples were found to be 28 and 33 for years 2024 and 2025 respectively. The incidences of 1/931 and 1/1048 were calculated for years 2024 and 2025 respectively. There was an increase of 30% in workload in 2025. Samples were collected 24 to 72 hours of births, 97.3% and 98% for years 2024 and 2025 respectively. The highest frequency of inborn error of metabolism (IEM) disorders was for congenital adrenal hyperplasia (CAH) 18 out of 60,655 with incidence of 1/3369 for two years. The second highest disorder was congenital hypothyroidism (CH) 15 with incidence of 1/4043. Other less frequent disorders include, Phenylketonuria, Propionic acidemia, Methylmalonic acidemia, MCC-3 -Methylcorotnyl Carboxylase Deficiency. Biotinidase deficiency, Glutaric Acidemia type-1(GA), Isovaleric Acidemia, Medium-chain Acyl CoA dehydrogenase deficiency (MCAD), Very long-chain AcylCoA Dehydrogenase deficiency (VLCAD), and galactosemaia. The incidence of newborn disorders in the private sector was almost similar to those found in public government sector in Saudi Arabia. There was an improvement in collection of samples after 24 hours to 72 hours of birth in spite of increasing workload in 2025