What is newborn screening?
Newborn screening, also known as the heel prick test, allows you to identify diseases, almost always genetic, in the first weeks of the baby's life, allowing them to be treated early.
How is the heel prick test done?
Screening is done through blood tests, from the 3rd day of life and if possible until the 6th, through one or two on the baby's heel.
What is the main purpose of this screening?
The purpose of this screening is to diagnose diseases that can later cause mental retardation, severe neurological changes, liver changes, or even coma.
What diseases are diagnosed with this screening?
Currently, the following diseases are screened:
- Congenital Hypothyroidism
- Cystic Fibrosis
- Aminoacidopathies
- Phenylketonuria (PKU)/Hyperphenylalaninemias
- Tyrosinemia Type I
- Tyrosinemia Type II
- Leucinosis (MSUD)
- Citrullinemia Type I
- Arginine-Succinic Aciduria
- Hyperargininemia
- Homocystinuria, Classical
- Hypermethioninemia (Déf. MAT)
- Organic Acidurias
- Propionic Aciduria (PA)
- Methylmalonic Aciduria (MMA, Mut-)
- Isovaleric Aciduria (IVA)
- 3-Hydroxy-3-Methylglutaric (3-HMG) Aciduria
- Glutaric Aciduria Type I (GA I)
- 3-Methylcrotonylglycinuria (Déf. 3-MCC)
- Malonic Aciduria
- Hereditary Diseases of Mitochondrial Fatty Acid ß-Oxidation
- Medium Chain Fatty Acid Dehydrogenase (MCADD)
- Very Long Chain Fatty Acid Dehydrogenase (VLCADD)
- Long-Chain 3-Hydroxy-Acyl-CoA Dehydrogenase (LCHADD)/TFP
- in Carnitine-Palmitoyl Transferase I (CPT I)
- in Carnitine-Palmitoyl Transferase II (CPT II)/CACT
- Multiple Acyl-CoA Fatty Acid Dehydrogenases (Glutaric Aciduria, Type II)
- Carnitine Primary (CUD)
How should parents proceed when the baby is born?
In maternity wards, hospitals and health centres, there are appropriate cards for harvesting. From the 3rd day of life and if possible until the 6th, parents should take the baby to one of these places to have blood drawn.
What is the cost of this screening?
The analysis is supported by the National Health Service and is free of charge for parents.
Why should the harvest be done between the 3rd and 6th day of life?
The reason is that before the 3rd day the values of the markers in the baby's blood may not have diagnostic value. After the 6th day, some markers lose sensitivity, and there is a risk of delaying the start of treatment.
However, the harvest should always be carried out, even if it is late.
Is screening mandatory?
Nope. The screening will always depend on the wishes of the parents. However, given that there is a treatment for all the diseases studied, the advantages for the baby are clear and evident.
What happens if I don't do the "heel prick test" on my baby?
Failure to carry out the screening does not imply any loss of rights for either the baby or the parents.
Are parents notified of the results?
Parents will only be contacted if the tests are not normal or if there was a need for any laboratory confirmation.
If any of these diseases are detected, parents are immediately advised to start treatment as soon as possible.
If there are no changes, how can I know the results?
Parents can find out the normal results through the internet, 3 weeks after the bite on the foot, by consulting the address: www.diagnosticoprecoce.pt.
- Select the "Heel Prick Test Results" option
- Enter the number of the barcode given to the parents at the time of collection and the contact telephone number associated with the newborn
- Select the Consult button