Today marks the 50th anniversary of the introduction of the heel prick test (or newborn blood spot screening) in the Netherlands. This test involves the collection of a few drops of blood from newborn babies and screening the blood for serious and rare disorders. In 1974, this was done only for the metabolic disorder phenylketonuria (PKU), but nowadays the screening includes 26 other conditions – including a large number of metabolic disorders, a muscle disorder and an immune system disorder. In the past 50 years, almost everybody born in the Netherlands had a heel prick test, with the participation rate hovering around 99% from the beginning. This is equal to more than nine million babies. Each year, the heel prick test detects a serious disorder in around 225 children.
The objective of the heel prick test is to detect serious, but treatable congenital disorders at an early stage. Detection has the potential to reduce the impact of a disorder significantly: the sooner a disorder is detected, the sooner treatment can start. Treatment usually consists of medication or a diet. Timely treatment by a specialist paediatrician prevents serious damage to the health of the child and unnecessary suffering, ensuring a better quality of life for the whole family.
Thyroid disorder CH detected most often
Since last year, the heel prick test has been used to screen babies for 27 disorders. The disorder most recently added to the list is the metabolic disorder adrenoleukodystrophy (ALD). As a result, the heel prick test now detects a serious disorder in around 225 children each year. Congenital hypothyroidism (CH), a thyroid disorder, is detected most often, followed by sickle-cell disease and cystic fibrosis. The capability to detect 27 disorders makes the Dutch heel prick test one of the most advanced in Europe.
History of the heel prick test
The heel prick test has its origins in the 1960s. The discovery that rapid detection of a disorder could prevent a serious developmental delay was a major breakthrough. In 1974, the Netherlands introduced a national screening programme for the metabolic disorder PKU. Until 2007, the screening programme covered only three disorders. As the availability of screening tests and treatments increased, the programme’s coverage could be expanded with ever more disorders.
More disorders are expected to be covered in the future. The heel prick test is administered on behalf of the Ministry of Health, Welfare and Sport by a cooperative partnership consisting of youth healthcare services, providers of obstetric care, laboratories, paediatricians, patient organisations and scientists. RIVM is responsible for managing the screening programme.