Your baby 0-1 year

Guthrie test: 5 diseases in the line of sight

Guthrie test: 5 diseases in the line of sight


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Performed 72 hours after birth, the Guthrie test can detect "invisible" diseases, mostly genetic in origin. A small cut in the heel or on the hand that is only good for your baby!

72 hours after birth, your baby will have a small cut in the heel or on the hand to take a few drops of blood that will be sent and analyzed at the regional neonatal screening laboratory. These analyzes will focus on the detection of five diseases, which are of genetic origin for the most part.

  • Phenylketonuria is the first disease to be systematically screened: it was in 1980. It concerns one in 15,000 births. It is linked to the absence of an enzyme that makes it possible to transform phenylalanine, a substance contained in certain foods. As a result, phenylalanine builds up in the body and can cause serious damage to the baby's developing brain. To avoid mental retardation, it is necessary to intervene before three weeks of life. The treatment is simple and effective: it consists of giving the sick child a diet without phenylalanine, that is to say low in protein, until the development of his brain is completed around the age of 12 years.
  • In 1994, congenital hypothyroidism has added to this first detected disease. It affects one in 4000 children. It is a deficiency of thyroid hormone production, which can also cause mental retardation. To prevent it, treatment - the administration of hormone replacement - must begin before the 12th day of life. Of course, if your baby has this disease, you will be notified early enough to attack the treatment on time.
  • Sickle cell disease has also been diagnosed since 1994. This pathology mainly affects people from Africa, the Caribbean, Guyana and Reunion. Only babies with both parents responding to this profile are detected. This time, it is the red blood cells that suffer from an anomaly: they are deformed and, as a result, lose their ability to pass into the small blood vessels, which is likely to cause "microbouchages" and bad oxygenation of the body. Phenomenon all the more important when the child has an infection and temperature. Even if there is no treatment, it is possible to prevent serious complications by vaccinating the child very early, taking care of the slightest cold. After 4 years, he runs less risk.
  • Congenital adrenal hyperplasia was added to the list in 1995. This disease - one in 18,500 children is concerned - prevents the manufacture of a hormone, cortisol. It is manifested by a sudden loss of salts between the 12th and 14th day of life, which can lead to severe dehydration and the death of the child in twenty-four hours. The treatment is very simple and consists in giving two drops of the missing hormone in the bottle.
  • Finally, the screening of Cystic fibrosis was introduced in 2002. This disease affects one baby out of 3000. There is no treatment for this pathology causing notably pulmonary insufficiency, but we know from now on that an early management of the young patients improves the quality and the 'life expectancy.

Guthrie's test, how are things going? Our article

Isabelle Gravillon, with the collaboration of Dr. Roselyne Garnotel of the laboratory of biology and pediatric research of the University Hospital of Reims, and Pr Jacques Sarles, professor of pediatrics in Marseilles and vice-president of the AFDPHE (French Association for the detection and the prevention of the handicaps of the child).