Lentry into force of a new decree this December 1stauthorizes the systematic screening of the deficiency in medium-chain fatty acid acyl-CoA dehydrogenase (more simply called deficiency in MCAD). This screening is in addition to the five others already offered to newborns as part of the newborn screening program.
What is the MCAD deficiency ?
LL it is a hereditary illness rare (1 to 5/100,000 babies) characterized by the body’s inability to use certain fats (fatty acids) as a source of energy. The consequences for the child can be very serious when the child’s energy needs exceed what his body manages to produce, especially in the event of infections, vomiting or periods during which he does not eat enough.
As the Directorate General for Health points out, “gThanks to birth screening, an adapted diet helps to avoid the complications of this disease and will allow the child to develop normally.”
What are the 6 screenings offered at birth?
From the first days after birth, tests are offered by the maternity ward to each newborn, as part of the national screening program.
These screening tests identify children with six serious diseases, often of genetic origin : phenylketonuria, congenital hypothyroidism, congenital adrenal hyperplasia, sickle cell disease, cystic fibrosis and from December 1st MCAD deficiency (Medium-Chain-Acyl-CoA Dehydrogenase).
The purpose of these screenings is simple:Children with these diseases are identified and treated from their first weeks of life. They can thus benefit from a early treatment Who prevents the onset of a severely disabling disease or significantly reduces its harmful effects.
Screening from a drop of blood
In 2019, 763,706 children benefited from the national neonatal screening program. It is carried out in the maternity ward (sometimes at home) by taking drops of blood on a blotter, after a small prick in the heel or in the hand of the newborn. It is performed at the earliest 48 hours after birth, at best at 72 hours.
It is systematically offered with parental consent. Done free of charge, the sample is taken between 2 and 3 days after birth. Initially limited to screening for phenylketonuria in 1972, neonatal screening was extended to congenital hypothyroidism in 1978, to sickle cell disease in Overseas France in 1985 and ten years later in a targeted manner in mainland France, congenital adrenal hyperplasia in 1995, cystic fibrosis in 2002 and permanent bilateral deafness in 2012.
Source: DGS press release, 30/11/2020.
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