Screening at birth, for what?

Screening at birth for what? This was the theme developed by Dr. François Hervé, head of the neonatal unit, obstetrics and gynecology reproductive medicine at Tenon Hospital, during a day of information and prevention in the pregnant at this 20th district of Paris.
"Phenylketonuria, Congenital adrenal hyperplasia, hypothyroidism, cystic fibrosis and sickle cell anemia are 5 diseases that are currently the subject of a biological screening at birth, whose characteristics are to be serious, undiagnosed clinically unpredictable, frequent enough that testing is cost effective and has only a preventive or early treatment can prevent the occurrence of serious sequelae and even life-threatening, "recalls the neonatologist during an interview with the APM on the sidelines of the event.

The assays are performed upon taking venous blood then sampled on a blotter, it is sent by post in the regional federations of screening (eg, at the Necker Hospital for the Ile de France region).

"The laboratory techniques to provide prompt results in 10 to 12 days to establish urgent treatment in some cases, such as hypothyroidism (every day lost with adverse consequences on the intellectual capacity of the child) and congenital adrenal hyperplasia (risk of shock from dehydration can occur in 24 hours in acute forms), "said Dr. Hervé while emphasizing the inexpensive and reproducible measurements of the appearance.

Most of these diseases are autosomal recessive: siblings can be reached while the parents are just carriers of the genetic mutation responsible.

"PKU was the first in 1967 to be a biological screening at birth, which was widespread in 1975. Linked to an enzyme deficiency causing an accumulation of an amino acid (the phenylalanine), the disease was previously revealed to 6-7 months of life, most often by encephalopathy, "traces the specialist.

The treatment is very simple: it is to put in place quickly, in a few weeks, a diet with very little milk, providing an acceptable level of phenylalanine associated with supplements containing mixtures of amino acids, except that the body accumulates without being able to remove.

"The treatment is not intended for life, unlike that imposed hypothyroidism and congenital adrenal hyperplasia which themselves require any hormone replacement therapy throughout the life of the individual (thyroid hormones and adrenal hormones which assays are easy to balance, administered in daily catch, suggesting good compliance on the part of patients), "said the doctor.

In terms of frequency, this condition is diagnosed in 1 15,000 newborns, congenital adrenal hyperplasia at 1/15 to 20,000, with 1/4.000 hypothyroidism and cystic fibrosis, the most common among 1/2.000, but "many are very few symptomatic children achieve may be more or less important depending on genetic mutations," said Dr. Hervé.

About sickle cell disease, this disease is specific to certain ethnic backgrounds (mainly sub-Saharan Africa, India, West Indies), which requires targeted screening, he added.

And the future in that? "With the improvement of knowledge and technical progress, all individuals could, at birth, have a genetic map of a smart card: some revolution but falls a real philosophical problem is it desirable. Indeed, to know too far in advance their future health and not there is a risk of drift eugenics? "is he asked in conclusion.