Rare Diseases in Uruguay: Focus on Infants with Abnormal Newborn Screening

Abstract

Introduction: Newborn Screening Program (NBS) in Uruguay includes congenital hypothyroidism (CHT), phenylketonuria (PKU), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), and Congenital Hearing Loss (CHL). Objetives: This study describe the epidemiological characteristics of newborns with abnormal neonatal screening tests diagnosed by blood drop and otoacoustic emissions in Uruguay. Results: Cases with abnormal NBS tests (399 newborns; 0.17%) were compared to the newborns with normal tests in the same period (239,240). Prevalence rates (per 10,000 livebirths) were 10.00 for CHL; 3.70 for CH; 1.20 for CF; 0.59 for CAH; 0.54 for PKU; 0.13 for MCADD. The Department of Artigas had the highest rate of abnormal tests. Lower maternal education, less prenatal care, increased prematurity rate and neonatal depression were more frequent in in mothers whose children had CHL. Conclusions: This is the first study evaluating the characteristics of newborns with abnormal screening in Uruguay. Because these results may impact the planning of health services, data transmission between clinical care and public health systems is needed to improve both follow-up and management.

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

“…Various health proclamations related to NBS and a challenging transition to heelstick specimens have led now to one of the more comprehensive, universal, free, and equitable screening programs [ 1268 ]. Among other activities, a pilot HGB project [ 1270 ] and an evaluation of newborns with abnormal screening results, including NHS, have recently been reported [ 1271 ], along with a 25-year history of NBS in Uruguay [ 1272 ]. Currently, implementation of a NBS pilot for BIO is planned for 2024 and recently the MOH designated BPS as a national resource center for rare diseases.…”

Why are Birth Defects Surveillance Programs Important?

“…Additionally, some researchers advocate expanding surveillance systems to ensure that functional or developmental defects are also counted along with structural birth defects ( 36 ). The National Registry of Congenital Defects and Rare Diseases-RNDCER of Uruguay, for example, have included the mandatory notification of neonatal screening pathologies ( 56 ). Newborn screening is one of the most widely distributed population screening programs worldwide ( 57 ).…”

25 Years of Newborn Screening in Uruguay

“…All positive cases are reported to the National Registry of Congenital Defects and Rare Diseases (RNDCER) of the Ministry of Public Health for its epidemiological control and surveillance. [15] Patients with altered newborn screening results are referred to their health provider if it corresponds to a diagnosis of CH or HAC (Endocrinopathies) as well as haemoglobinopathies.…”