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2025 Updated Newborn Screening Test in Turkey: What Is Heel Prick Blood Test and Which Diseases Are Detected?
A few drops of blood taken from your newborn’s heel can deeply impact their future health and quality of life. Turkey’s newborn screening program has expanded over the years and now detects 6 serious diseases early on.
In this article, I answer parents’ most common questions such as:
“What is the heel prick test?”, “Which diseases are screened?”, “When did CAH screening start?”, “When is it repeated?”, and “When do results come out?”
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🧪 What Is the Heel Prick Test?
The heel prick test, or newborn screening test, is an early diagnosis screening performed by taking a few drops of blood from the baby’s heel between 48 and 72 hours after birth. It helps detect metabolic, genetic, or endocrine diseases that may show no symptoms initially.
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🗓️ When Should It Be Taken?
First sample: Between 48–72 hours after birth (usually before discharge).
If taken too early or insufficiently (within first 24 hours), it should be repeated within the first week at your family health center.
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🧬 Which Diseases Are Screened in Turkey?
As of 2025, the program screens for these 6 diseases:
Phenylketonuria (PKU)
Congenital Hypothyroidism (CH)
Biotinidase Deficiency
Cystic Fibrosis (CF)
Congenital Adrenal Hyperplasia (CAH) – routine screening started in 2018
Spinal Muscular Atrophy (SMA) – included since 2022
This is a continuously updated program offered free by the government.
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⚙️ Why Are These Diseases Screened?
PKU: Phenylalanine accumulates and untreated causes intellectual disability. Preventable with diet.
CH: Thyroid hormone deficiency affects brain development; early treatment prevents problems.
Biotinidase Deficiency: Causes neurological, skin, and metabolic issues; controlled with biotin supplements.
CF: Affects lungs and digestion; early diagnosis even in asymptomatic babies is crucial.
CAH: Hormonal disorder with serious health risks; screening expanded in 2018.
SMA: Genetic muscle disease; treatment can slow progression.
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📥 When Do Test Results Come?
Usually within 1–2 weeks, results are sent to the family doctor or birth hospital.
If positive or suspicious, families are contacted for repeat tests or referred to treatment centers.
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🚼 Does It Hurt? Is It Harmful?
A tiny needle pricks the heel to collect a few drops of blood — minimal pain with no lasting effects.
However, the results are life-saving: early treatment prevents permanent damage and intellectual disabilities.
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💡 Frequently Asked Questions
“We missed the test, what should we do?”
You can go to a family health center to have the test repeated.
“Is CAH screening routine for all babies?”
Yes, since 2022 all newborns in Turkey are routinely screened for CAH.
“What happens if the result is positive?”
Additional tests are done and specialist doctors start close monitoring and treatment. Early diagnosis enables effective therapy.
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✅ A Small Drop, a Big Difference
Turkey’s National Newborn Screening Program screens around 930,000–950,000 babies each year and prevents permanent damage with over 5,000 early diagnoses.
Early diagnosis prevents intellectual disability, muscle diseases, and hormonal disorders
Treatment becomes easier: diet, hormone, vitamin, or medication regulation enables a normal life
It is a free and government-supported public health service