What is newborn screening? It is a test that allows you to identify and treat over 40 rare diseases
Filippo, 4 years old in April, owes his life as a normal, awake and lively child to a small blood sample, done in the hospital when he was only two days old. Philip, in fact, has themethylmalonic acidemia, a rare one metabolic disease which, if not treated, can lead to very serious consequences, including developmental delay, cognitive impairment, anemia, behavioral disturbances, cardiac malformations. Thanks to that sample, necessary for the execution of a test called newborn screening or metabolic screeningHowever, the worst was avoided, because together with the diagnosis of the disease, the solution also arrived: a cocktail of drugs and vitamins that prevents the manifestation of the damage associated with the disease itself and allows Filippo to have a completely normal existence.
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Extended neonatal screening
Law 167 of 2016 provides for it for all children, whether born in a public hospital, in a private center or at home, at no cost to families, given that it has been included in the new essential levels of assistance, which came into force. last year. We asked Giancarlo La Marca, head of the newborn screening laboratory of the Meyer Hospital in Florence and president of the Italian society for the study of hereditary metabolic diseases and newborn screening to clarify this topic.
What is neonatal screening and what is it for
The simple answer is that it is a biochemical test on a blood sample from a newborn, made to identify any symptoms before the onset hereditary metabolic diseases which, if not identified and treated in time, can lead to major and permanent clinical damage, such as mental retardation, or even a premature death.
If, on the other hand, the disease is identified and we start immediately with the appropriate treatment – as happened in the case of little Filippo – everything can change: quality and life expectancy drastically improve, up to the possibility of anormal existence (apart of course the need to take drugs or some limitations in the diet).
Time is of the essence, explains La Marca. If the damage has already occurred, it is generally impossible to go back or stop its progression: this is why we must act as soon as possible, recognizing the disease in the very first days of life.
The Marca, however, prefers one a little more articulated definition of newborn screening:
Not just a biochemical test, but a complex multidisciplinary system, which also provides forinformation to parents, the involvement of the staff who must take, store and send blood samples to the analysis laboratories, any diagnostic confirmation procedures and, in the event of a definitive diagnosis, the child’s care by doctors or other expert specialists of the disease in question
Filippo’s story: when newborn screening saves your life
An absolutely normal pregnancy, a quick and trouble-free birth, and finally, in April 2014, he arrives, Filippo, a newborn apparently in great shape. Roberta, the mother, does not know yet – she will be told at the time of discharge – but when Filippo is two days old he is subjected to the expanded neonatal screening. His salvation.
Ten days after returning home, in fact, Roberta receives a phone call from the hospital: they tell her that the child has tested positive, in particular with respect to a substance called acetyl-carnitine. While reassuring her that it could have been a false positive they summon her for further tests and her mother’s heart begins to get agitated: she tries to think positively, but “feels” that something would not have gone the right way.
In fact it is just like that: the new series of tests confirms that there is a problem and it has a difficult name, methylmalonic acidemia. A metabolic disease of genetic origin that could seriously and permanently compromise Filippo’s development. Fortunately, there is a solution: a cocktail of drugs and vitamins to be taken by mouth or with intramuscular injections: cystadane, vitamin B12, vitamin B6, folic acid and carnitine. The therapy, started immediately, works: the levels of toxic substances caused by the disease begin to drop. Four years later, Filippo is a perfectly normal child: he talks (he could not have done so), runs, plays, goes to kindergarten.
When she talks about her son’s problem, Roberta often hears the answer “but it doesn’t seem like it!”. He learned to have the answer ready: “It doesn’t seem like he was lucky enough to have one diagnosis at birth. Otherwise now we would be fighting another battle, certainly harder and more difficult than this one. “
This is why Roberta has become a staunch supporter of newborn screening, of whose importance she speaks every time she has the opportunity:
When a woman is pregnant she hears about many things, some as important as the preservation of the cord, others more superficial. But very little is said about newborn screening and those metabolic diseases which, if discovered in time, can still be dealt with in an excellent way, guaranteeing a normal life instead of very heavy damage “.
What are the diseases that newborn screening deals with?
As early as 1992, mandatory neonatal screening was conducted throughout Italy for the identification of three hereditary diseases:
- cystic fibrosis,
- congenital hypothyroidism.
Over time, some regions had added others to these three diseases, reaching a panel “enlarged“: a condition that had however generated a strong one inequality on a purely geographical basis in terms of opportunities for treatment and, at times, for salvation. In 2015 there was a lot of talk about the dramatic case of Malika, who died at just four months from the Pompe disease, a serious and very rare neuromuscular disease. In Emilia Romagna, where the child was born and resided, the disease was not included in the screening, while even then it was for example in Tuscany: if it had been identified at birth, Malika would probably be alive today.