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How can France make newborn selection?



Illustration of a blood test to discuss the diagnosis of newborn infants. – pixabay

  • In December, after telethon, the International Day of Rare Diseases is a possible opportunity for more than 3 million French people affected by strange illnesses 6,000 and 8,000.
  • As France prepares to review bioethics, it can change the diagnosis of precocious and newborns.
  • In fact, nowadays, five diseases are being tested in all newborns, in Sweden and in Austria 24 times.

"The disease can be strange when it affects a family in 100%", philosopher, geneticist and president Jean-Louis Mandel.
Rare Disease Foundation. Telethon-highlighted pathologies are very numerous (between 6,000 and 8,000), the genetic origin complex and 80%.

On Thursday, the International Day of Illnesses organized by the Association of Patients and Foundations is once again calling on the health authorities to request it; In fact, France has suffered a great deal of delay, especially in the newborn diagnosis.

Prediction, preterm birth and newborn diagnosis

Low precision through definitions. It is necessary to separate the three stages of the diagnosis. Pre-conception tests are pairs of children and French wishes, with children already born or family history. But this access to preconcepto testing can be expanded
Revision of the 2019 bioethics laws. "In Israel, a public health program offers all the couples that offer three screening for rare diseases," says Jean-Louis Mandel.

Second case: pregnancy during pregnancy during pregnancy: we will take a small tissue around embryos and amniotic fluid to prevent the fetus from being genetically pathogenic. Analysis proposed for couples with a risk.

The third step, after the baby is born, is a diagnosis of newborns. "Today, we take some blood drops for all newborns to confirm that they have no serious illnesses: phenylketonuria, congenital hypothyroidism, adrenal hyperplasia, cell disease and cystic fibrosis," says Bernard Delorme, president
Rare Diseases Infos Services, an information platform. "Thus, 25,000 children were treated to get early treatment and, therefore, to live better in their daily lives," said Nathalie Triclin, the president.
Rare Alliances Alliance.

French delay

However, in relation to many associations, France needs this diagnosis of pregnancy urgently. In fact, in Sweden, there are 24 rare diseases in Austria. "Since 2002 there is no new disease listed for early detection," Pr Mandel gradually prohibits. Why this delay? For the Alliance, the financial argument has not maintained. "The cost is ridiculous: it only represents 8.6 million euros per year or 11 euros per newborn", the president confirmed.

What is the problem? "This problem is a poor organization and its reform is very slow," says Nathalie Triclin. As proof of this, an MCAD deficit childcare operation, recommended from 2011
Higher Health Authority … and it has not yet been created. "This illness causes it to lower blood sugar and, unless rapid management is carried out, children can cause sudden death," warns Bernard Delorme. "Behind this delay, hidden real dramas are hiding," Nathalie Triclin admits. That is why Risk Prevention and Research Agents are participating in these days, so that the health authorities can extend these tests to all babies.

Good context

"We are mainly in a good context, launching the 3rd National Nation Plan for Rare Diseases 2018-2022.
The review of the French Genomic Medical Plan 2025 and the bioethics laws, "Nathalie Triclin argues. Diagnosis of the first days of life would be inevitable." After the brain is destroyed, it is too late, a simple dietary treatment started the first week can prevent certain intellectual delays, "says Jean-Louis Mandel.

Another advantage: before making a diagnosis, more efficient treatments. "For those children, delaying or increasing the occurrence of symptoms due to their illness," said Christian Cottet, CEO of AFM-Telethon. Associations also suffer to help families of everyday life who condemn pathologies.

In recent years, the genetic progress has been enormous, it is necessary to obtain the introduction of advanced technological tools to obtain highly accurate diagnostic genomes, but also to market new drugs, which seems to improve the previous diagnosis. The first stone to change the lives of thousands of families, often joining ongoing therapeutics. And sometimes, even if it is impossible to know that pregnancy is a glass of champagne, that is, caused by sequences or just scarce genes …


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