In the days following birth, motherhood, a little blood is taken from the heel of the newborn. This exam will find five diseases whose diagnosis must be made very early to allow for early care and lessening its impact. What are these diseases?
Phenylketonuria
- It is detected at birth in all children since 1978.
- It is a genetic disease that affects a child of 15 000-17 000 (50 children per year in France).
- It is due to the absence or decreased levels of an enzyme (phenylalanine hydroxylase), responsible for degradation of phenylalanine in the body. Phenylalanine is a substance (amino acid) provided by dietary protein.
- The accumulation of phenylalanine in the body causes a nervous system causing mental retardation.
- Measurement of phenylalanine in the blood taken shortly after birth can make a diagnosis.
- If the rate is too high, it sets up a regime that excludes foods high in phenylalanine. This regime should be continued generally for at least ten years and taken during pregnancy. It allows a satisfactory mental development.
Congenital hypothyroidism
- It is detected at birth in all children since 1978.
- It is a disease that affects one child in 3500 and is due to insufficient production of hormones by the thyroid or a poor quality of these hormones. Thyroid hormones are especially necessary for growth and maturation of bone and nervous system.
- The lack of thyroid hormones leads to growth retardation (up to and dwarfism) and intellectual deficit more or less marked.
- Diagnosis is made by assaying, in blood taken at the heel of the newborn, a hormone that stimulates the thyroid (TSH).
- If positive, treatment with thyroid hormone-to-day is started in the early days and continued throughout life. This treatment allows normal development.
The congenital adrenal hyperplasia
- It is routinely screened at birth since 1996.
- It is a genetic disorder that a child reaches about 15 000 to 20 000. It is linked to abnormal production by the adrenal glands (located above the kidneys) of certain hormones, one of which occurs in particular in the right use of salt by the body. When this hormone is absent or very low levels, there is a very serious risk of dehydration.
- Diagnosis is made by assaying a hormone produced by the adrenal glands: the 17-hydroxy progesterone.
- Treatment (by hormones) should be started as soon as possible, preferably before the 15th day of life.
Cystic fibrosis
- It is routinely screened at birth since 2002.
- It is a genetic disorder that affects 1 child in about 3000.
- It is characterized by an abnormality of various secretions of the body: at the unit respiratory, digestive, skin (sweat). It is reflected in particular by recurrent respiratory infections and digestive disorders.
- The diagnosis is based on testing of a blood enzyme, trypsin, with confirmation in positive cases by genetic testing.
- The early initiation of treatment with kinesith-therapy, antibiotics, diet can improve the prognosis of the disease.
Sickle Cell Disease
- This genetic disease which affects the black population is detected since 1996 in children born in departments overseas and in some children born in metropolitan France (those whose parents originate from the Caribbean, Guyana, Africa Sub-Saharan, the meeting ...).
- It is a genetic disorder that is characterized by an abnormal hemoglobin, forming RBCs carry oxygen. It causes anemia, a tendency to lung infections and bone, blockage of the vessels.
- An early treatment with infection, anemia and profound situations that can trigger sickle cell crisis can prevent or delay the onset of serious complications.