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Newborn screening

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Newborn screening is a set of tests and checks done on newborns. Its purpose is to try to find disorders that do not show on the outside yet, but that can be serious and need prompt attention.

For the blood part, the baby's heel is pricked and a few drops are placed on a filter paper card. The interesting part is the kind of answer it gives. A diagnostic test compares a number with a reference range, meaning the values that are expected. Screening does not do that: it gives a risk value. It works like a kitchen sieve: it confirms nothing, it just sets aside whatever carries more risk.

In the United States it checks several areas at once: hearing loss, critical congenital heart disease, which is a serious heart defect present at birth, and a group of metabolic, hematologic, endocrine and inherited disorders. The idea of screening began in the 1960s with one disease of that kind, phenylketonuria.

In brief

Newborn screening is a set of tests and examinations in newborns that attempts to identify hidden but potentially serious disorders that need prompt intervention.

The heel is pricked and a few drops of blood go onto a filter paper card; the result is a risk value, not a comparison with a reference range.

A sieve: it sorts out risk; it does not diagnose.

In the United States it covers hearing loss, critical congenital heart disease, and metabolic, hematologic, endocrine and inherited disorders; it began in the 1960s with phenylketonuria.

Sources (1)
  1. National Center for Biotechnology Information, StatPearls PublishingNewborn Screening, StatPearlsPublished

This page explains the topic in general terms; it does not tell anyone what treatment to follow.

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