New Born Screening

(Guthrie Heel Prick)

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Rationale

-  Test for treatable congenital metabolic disorders

-  Performed between 48 & 72 hours after birth

-  False positives possible if <48 hrs

 

Features

-  May also be given Vitamin K1 (2nd dose) at same time if parents have opted for PO rather than IM prophylaxis

 

Procedure

-  Heel prick

-  Blood drop placed on Guthrie paper

-  Sent to laboratory

-  Results available in 24 hrs

-  4-6 weeks for CF results

 

Tests for

-  Phenylketonuria (PKU)

-  Congenital Hyopthyroidism (TFT)

-  Cystic Fibrosis (CF)

-  Galactosaemia

-  Aminoacidopathies

-  Organic Acidaemias

-  Fatty Acid Oxidation Defects