IMPE Abstracts

Background: Since August 1985 we started a neonatal screening program for 1) Congenital Hypothyroidism (CH) and 2) Phenylketonuria /Hyperphenylalaninemias PKU/HPA) adding to the program in 1997 3) Cystic Fibrosis (FQ) 4) Galactosemia (GAL) and 5) Congenital Adrenal Hyperplasia (CAH), in 2006 6) Biotinidase Deficiency (BD) and in 2013 7) Maple syrup disease (MSUD).

Objective: To Communicate the results of the implemented program since its beginning to 06/2022

Methods: Screening was performed in filter paper dried blood spot obtained between 36hs and 5 days of life. Disease Markers, methods of screening, detection and respective cutoffs (CO) were: 1) TSH (IA, IRMA till 1997 and Delfia-IFMA thereafter. CO: 15mUI/L till 2003 and then 10 mUI/l. 2) Phenylalanine (fluorometry) CO:2.5 mg/dl 3) Immunoreactive Trypsin (Delfia –IFMA), with IRT/IRT strategy (CO:70 ng/dl) 4) Total Galactose. Enzymatic Colorimetric (CO:12mg/dl) 5) 17OHProgesterone (Delfia-FIA) (CO adapted to gestational age and age of sampling) 6) Biotinidase activity (colorimetric qualitative) 7) Branched amino acids (enzymatic colorimetric) (CO: 4 mg/dl). Confirmation studies were performed in every detected newborn, treatment was started according to results and follow up performed in our center or referred to specialized ones

Results: are shown in the Table. Coverage was >98%, with a median age of sampling of 3 days.

Conclusions: with adequate analytical parameters, screening was performed and diseases confirmed timely. CH, CF, CAH and PKU/HPA are prevalent conditions in our country while GAL, BD and MSUD are more rare. Our program assumed the responsibility of confirmation and treatment in order to reassure the benefits of the adequate detection.