Neonatal screening allows early diagnosis

• May 2, 2024

It is a study that identify to newborns with alterations in metabolism. The objective of the neonatal screening is to detect the existence of a disease or congenital deficiency , before it manifests itself, for the timely and integral detection and treatment.

The neonatal screen must be applied to all children newly born . It is not a diagnostic procedure, since newborns with suspicious results must undergo confirmatory diagnostic tests.

The study is currently carried out in all countries through the analysis of blood drops, from the heel, collected on a specific filter paper, which is known as the "Guthrie card", a pioneer of screening programs around the world.

Through this analysis can detect from a disease, such as phenylketonuria or congenital hypothyroidism, up to nearly fifty diseases such as congenital adrenal hyperplasia, cystic fibrosis, galactosemia, maple syrup urine disease (maple), defects of the cycle of urea, tyrosinemia, congenital organic acidemias, oxidation defects of fatty acids, thalassemias, Duchenne muscular dystrophy, infectious diseases such as toxoplasmosis and HIV (human immunodeficiency virus).

In Mexico, the neonatal screen for the detection of congenital hypothyroidism is mandatory by law and must be performed on all children born in Mexican territory.

(Source: Ministry of Health, National Center for Gender Equity and Reproductive Health, "Neonatal Screening, Detection and Timely and Comprehensive Treatment of Hypothyroidism, Technical Guidelines", 2007, Mexico D.F.)

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