From birth, baby passes a battery of medical examinations. Since January 1, 2023, neonatal screening has been extending to new rare pathologies. Seven additional diseases can now be found.
Within 24 hours and first days following the birth of baby, a series ofmedical exams are carried out to verify its state of health, growth and psychomotor development. Among the various tests, doctors have been carrying out since 1972 to neonatal screening,, commonly called “Guthrie test”. It is used for detect certain serious illnesses. Until 2022, 6 pathologies could be detected as well as permanent deafness but since January 1, 2023, 7 additional diseases can be detected. Here is all the information on the Guthrie test as well as on other baby’s medical examinations in the first moments of his life.
Guthrie test
During the first week of baby’s life, the doctor performs Guthrie test By doing a little blood test either in the heel or on the top of the hand in order to now detect a total of 13 rare diseases. This blood sample whose drop of blood is placed on blotting paper, is then sent to one of the 13 laboratories specialized in France. The High Authority for Health has recommendedextend neonatal screening By mass spectrometry in tandem, which today makes it possible to multiply the number of diseases detected at birth, from the same blood sample.
What are the diseases detected?
- Phenylcetonuria
- Congenital hypothyroidism
- Congenital hyperplasia of the adrenals
- Drépanocytosis (red blood cell anomaly)
- Mucoviscidosis
- MCAD deficit (disease that prevents the body from using fats as an energy source)
- Leucinosis (MSUD)
- Homocystinuria (HCY)
- Type 1 tyrosinemia (Tyr-1)
- Type 1 glutaric aciduria (GA-1)
- ISOVALERIC ACIDURIA (IVA)
- Hydroxycyl-CoA long chain dehydrogenase deficit (Lchad)
- Carnitine capture deficit (CUD)
In the future, neonatal screening could even evolve thanks to New genetic techniques. Professor Frédéric HUET, president of the French Neonatal Screening Society, told Ouest France, that work is underway to possibly use this test “For the most common and easier to treat diseases. Specialists agree that there are between 100 and 150 diseases that would justify neonatal screening. “
The APGAR score
Just after childbirth, The APGAR score is systematically practiced on baby. This is the very first test he is going through. It makes it possible to verify the vitality of the newborn at the time of its birth, to assess its state of health and its ability to adapt to the outside world according to 5 criteria. He breaks down into 5 quick and reliable tests which concern the heart rate, breathing, tone, reactivity to stimulation and coloring of the skin. These states are noted on a scale of 0, 1 or 2. Depending on the result on 10 points, the midwife can envisage specialized management (resuscitation, oxygenation, unobstruction). The APGAR score is again carried out 5 minutes after the birth of the infant, and sometimes even 10 to 20 minutes later if the score is too low. If the result highlights a more serious case, the baby can be transferred to an intensive neonatal care unit.
Baby’s first physical examination
After the apgar score, the newborn must pass a clinical examination Before he could be transferred to the diaper service with his mother. The pediatrician is measure and weighs it, determines its cranial perimeter in order to detect possible respiratory or cardiac vital pathologies (cyanosis, respiratory or neurological distress). Then, in order to be able to detect certain anomalies or malformationshe observes the motor skills of the newborn, and examines his head, his eyelids, his eyes, his mouth, his members, the permeability of the anus, the esophagus, the umbilical cord.
Auscultation of organs
The doctor then examines the right aspect of genitals Like the anus and the baby’s exterior genitarine-up device to ensure whether they are male or feminine type. In boy, the healthcare professional checks if his testicles went down to the scrotum. In the little girl, he can note the presence of edema at the level of the large lips which generally disappears in a few days. It also analyzes the femoral pulse at the level of the groin. He also palpates his kidneys, his abdominal cavity (belly and navel), he examines with his stethoscope the baby’s heart and lungs.
Examination of the feet, hands and joints
The doctor will count fingers of the newborn, watch the feet To identify a possible bot foot (foot turned inward or outside the ankle), and check if its toes fold up properly. Then the doctor examines his legs and hips. A test called “Barlow maneuver “ Can be carried out to detect possible congenital dislocation of the hip. It then checks the appearance and the state of the spine and its collarbones. Finally, he examines the shape of the skull, The Fontanelles (which must be flexible), the baby’s mouth and palate.
Examination of measurements
The baby is weighed and measured by the midwife or the childcare assistant. Note that a newborn baby loses between 5 and 10% of its weight in the days following childbirth because of the evacuation of an excess of water. He will return to his weight after about three weeks. It also determines the cranial perimeter which must be proportional to the size of the baby. Twenty-four hours later, the doctor resumes his measurements and postpones them in the baby’s health book.
Baby view and hearing examination
The doctor observes the external appearance of baby’s eyes To detect a possibly continuous flow of tears (tearing), a cataract or a malformation. He also performs, within hours of birth, an acoustic otoether test (OAE) which makes it possible to determine if your baby hears well.
The examination of archaic reflexes
The doctor assesses the baby’s “primitive” reflexes which are involuntary automatic movements characteristic of newborns: it is the suction, swallowing, gripping, the reflex of walking on a flat surface, the defense reflex (dit de Moro) or the reflexes of the cardinal points (Oubs when you caress the baby’s cheek, which it turns the head on the side which is stimulated). Systematically sought by the doctor or the midwife during the first examination, they testify to the good nervous development and a satisfactory muscle tone.
Maternity exit exam
The examination carried out just before returning to the home allows the pediatrician to Check that the baby is capable of extra-uterine life and encourage the child’s responsibility by his parents. It also makes it possible to check the weight of the newborn and to define the potential complications or pathologies requiring continuous observation or treatment. At the end of this examination, the pediatrician establishes a First health certificate.
