An extra analysis of a drop of blood from the heel prick can prevent about 100 babies from raising the wrong alarm every year about the serious hormone disease AGS. ‘That saves a lot of stress and anxiety for the parents. The extra test, developed in Amsterdam UMC, has been added as standard to the first heel prick since 1 October,” the Amsterdam UMC reported on Sunday.
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AGS
Adrenogenital syndrome (AGS) is a serious metabolic disease in which the adrenal gland produces too little of the ‘stress hormone’ cortisol. The hormone 17-hydroxyprogesterone actually accumulates. Since 2000, the latter hormone has been measured in one of the droplets of blood from the heel prick that children receive in the first week after birth.
false positive
‘Unfortunately, many children are wrongly suspected of AGS for a short time,’ says Professor Anita Boelen, head of the screening lab at Amsterdam UMC. ‘Of every 10 abnormal tests, only 1 child turns out to really have this hormone disease. It is only after a repeat of the heel prick or after other additional tests that the other 9 children are found to be OK.’ The disease occurs in 1 in 12,000 newborns. With 170,000 births per year in the Netherlands, this equates to more than 14 children with AGS every year.
Stressful period for parents
‘The period of uncertainty after a positive test is very stressful for parents,’ agrees Professor Annemieke Heijboer, head of the endocrinology laboratory at Amsterdam UMC, of which the screening lab is a part. ‘They are often unsure whether their newborn child has a serious condition for a week. But also in the years that follow, many of these parents are extra uncertain about the health of their child. Research shows that children who have had a false positive result on the first heel prick, require more care later in life. Even a temporary positive result that later turned out to be unjustified can still give a long-lasting stigma that there is ‘something’ with a child.’
Additional test
In 2016, the endocrinology laboratory of Amsterdam UMC developed an additional test that can be performed on the blood from the first heel prick. Boelen: ‘It measures another hormone, 21-deoxycortisol. During a 3-year study with this test, in 328 children who tested positive for AGS at the first screening, we were able to recognize all 288 false positive cases without taking extra blood and thus without unnecessarily worrying the parents. At the same time, no real cases of AGS were missed.’
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