A national screening program performed with a few drops of blood taken from the baby's heel to detect congenital diseases that can be prevented through early diagnosis. Usually performed between days 3-5 of life.
Indication
- All live-born infants covered by the Ministry of Health Newborn Screening Program
- Phenylketonuria (PKU) — screening for an inherited amino acid metabolism disorder manageable by diet
- Congenital hypothyroidism (congenital deficiency of thyroid hormone) — prevention of developmental delay
- Biotinidase deficiency — vitamin metabolism disorder
- Galactosemia — inherited deficiency in the breakdown of milk sugar
- Congenital adrenal hyperplasia (CAH) — adrenal gland hormone disorder
- Severe combined immunodeficiency (SCID) — congenital deficiency of the immune system
Preparation
- The baby should have been fed with breast milk or formula for at least 24-48 hours after birth
- The heel area should be clean and warm to improve blood flow
- Parents should inform the team about medications used and family history
- Premature birth, blood transfusion, or intensive care history must be reported; sample timing may vary
How it's performed
- The lateral aspect of the baby's heel is cleaned with an antiseptic and gently warmed
- A small puncture is made on the heel with a single-use sterile lancet
- A few drops of blood are placed onto circles on a special absorbent filter paper
- The blood sample is dried at room temperature and sent to the reference laboratory
- The whole procedure takes a few minutes; the baby usually cries briefly and quickly settles
- Breast milk, cuddling, or a pacifier may comfort the baby during the procedure
Post-procedure
- If the result is normal, the family is not contacted; if a deviation is detected, contact is made promptly through the family physician or hospital
- If the result is suspicious, a confirmation test (blood test, urine test, or genetic analysis) is requested
- If diagnosis is confirmed, the baby is referred to a pediatric specialist or to a pediatric metabolism/endocrine/immunology unit
- Repeat screening may be planned for premature, sick, or transfused infants
- Throughout the process, the baby's growth and development are followed with routine well-child visits
Risks
- Brief crying and mild bruising at the puncture site are the most common findings
- Very rarely, a small infection may develop at the puncture site; redness or warmth should prompt a doctor visit
- If the sample is insufficient, the screening may need to be repeated
- Screening does not detect all diseases at 100%; if clinical symptoms exist, additional evaluation is required
- Tests done too early or after transfusion may be misleading; timing rules are important
FAQ
Will the heel prick test harm my baby?
No. It is a safe procedure performed with a single-use sterile lancet and requires only a few drops of blood. Although the baby may cry briefly, no long-term harm has been reported.
If the result is abnormal, does it mean my baby is ill?
No. Screening tests identify potential risk; they do not make a diagnosis. An abnormal result only means confirmatory tests should be performed. Most suspicious cases turn out normal on further investigation.
When should the test be done?
It is usually taken between days 3-5 of life, after the baby has been feeding for at least 24-48 hours. For premature or sick infants, the timing is planned by the physician.
Is the screening program mandatory?
In Turkey, the National Newborn Screening Program of the Ministry of Health is offered free of charge to all live-born babies and is strongly recommended. Early diagnosis can prevent permanent intellectual and developmental damage in these conditions.
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