The numbers are there, indisputable. “Across France, we observe Slight downward trend in the number of newborns with cystic fibrosis since 2002, the start date of birth counts for children with cystic fibrosis throughout the territoryMarie-Pierre Audrezet, research engineer and national reference at Brest University Hospital concludes “Molecular biology of cystic fibrosis” for newborn screening. However, by region, the decline was not significant. »
Between 2002 and 2009, the average incidence was one affected child in 4,800 births. Then, between 2010 and 2017, that number dropped to one child in every 5,800 births. In 2021 alone, the incidence will be 1 in 6,150 births. “It is best to calculate the average impact over a period of five to seven years to correct for fluctuating impacts from one year to the next”Marie-Pierre Audrezet explains that these fluctuations are associated with a low incidence of the disease.
Since 1994, genetic counseling has been provided to relatives of affected children. When a couple has their first affected child, they have a 25% risk of having a new affected child with each subsequent pregnancy. This calculation depends on how the disease spreads. Cystic fibrosis is actually a recessive genetic disease. Children can only develop cystic fibrosis if they carry two mutated copies of the disease-causing CFTR gene, one on each chromosome 7. He would inherit one mutated copy from his father and one mutated copy from his mother, with each parent carrying only one mutated copy. Individuals who carry a single copy of the gene are called “healthy carriers”; it is estimated that this occurs in 1 in 38 people.
When a couple has their first affected child, genetic investigations are extended to the family: siblings of parental couples are especially advised. This work can identify other healthy carriers in the family and, if they wish, screen their spouses.
If both members of a couple carry a mutated copy of the CFTR gene, they can, if they wish, in prenatal diagnosis from week 12 of pregnancy (by taking a sample from the trophoblast – the future placenta) or week 15 of pregnancy benefit (via amniocentesis). “Identification of fetuses carrying cystic fibrosis may justify medical termination of pregnancy”2009 Higher Health Authority Emphasis. As a second intent, some couples may undergo medically assisted reproduction followed by preimplantation diagnosis.
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