From birth, baby passes a battery of medical examinations. Since January 1, 2023, neonatal screening has been extended to new rare pathologies. Seven additional diseases can now be found.
In the 24 hours and the first days following the birth of the baby, a series ofmedical exams are carried out to check his state of health, his growth and his psychomotor development. Among the various tests, doctors have been carrying out since 1972 the newborn screening, commonly called “Guthrie test”. It serves to detect certain serious diseases. Until 2022, 6 pathologies could be detected as well as permanent deafness but since January 1, 2023, 7 additional diseases can be screened. Here is all the information about the Guthrie test as well as on the other medical examinations of baby in the first moments of his life.
Guthrie’s test
During the first week of baby’s life, the doctor performs the Guthrie test taking a blood test either in the heel or on the top of the hand in order to now screen a total of 13 rare diseases. This blood sample, the drop of blood of which is placed on blotting paper, is then sent to one of the 13 specialized laboratories in France. The High Authority for Health has recommendedexpand newborn screening by tandem mass spectrometry, which now makes it possible to multiply the number of diseases detected at birthfrom the same blood sample.
What diseases are screened for?
- Phenylketonuria
- congenital hypothyroidism
- Congenital adrenal hyperplasia
- Sickle cell disease (abnormal red blood cells)
- The cystic fibrosis
- MCAD deficiency (disease that prevents the body from using fat as a source of energy)
- Leucinosis (MSUD)
- Homocystinuria (HCY)
- Tyrosinemia type 1 (TYR-1)
- Glutaric aciduria type 1 (GA-1)
- Isovaleric aciduria (VIA)
- Long chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
- Carnitine uptake deficiency (CUD)
In the future, neonatal screening could even evolve further thanks to new genetic techniques. Professor Frédéric Huet, president of the French Society for Neonatal Screening, told West Francethat work is in progress to possibly use this test “for the most common and easily treated diseases. Specialists agree that there are between 100 and 150 diseases that would justify newborn screening.”
The Apgar score
Right after giving birth, the Apgar score is practiced systematically on babies. This is the very first test he passes. It makes it possible to check the vitality of the newborn at the time of his birth, to evaluate his state of health and his ability to adapt to the outside world according to 5 criteria. It breaks down into 5 quick and reliable tests which relate to heart rate, breathing, tone, responsiveness to stimulation and skin color. These states are noted on a scale of 0, 1 or 2. Depending on the result out of 10 points, the midwife can consider specialized care (resuscitation, oxygenation, clearing). the score Apgar is done again 5 minutes after the infant is born, and sometimes even 10 to 20 minutes later if the score is too low. If the result points to a more serious case, the baby may be transferred to a neonatal intensive care unit.
Baby’s first physical exam
After the Apgar score, the neonate must pass a physical examination before he could be transferred to the postpartum ward with his mother. The pediatrician measures and weighs it, determines its head circumference in order to detect any vital respiratory or cardiac pathologies (cyanosis, respiratory or neurological distress). Then, in order to be able to detect certain abnormalities or malformationshe observes the motor skills of the newborn, and examines his head, his eyelids, his eyes, his mouth, his limbs, the permeability of the anus, the esophagus, the umbilical cord.
Auscultation of organs
The doctor then examines the good aspect of the genitals such as the baby’s anus and outer genitourinary tract to ascertain whether they are male or female. In boys, the healthcare professional checks to see if their testicles have descended into the scrotum. In the little girl, he can note the presence of an edema at the level of the labia majora which generally disappears in a few days. It also analyzes femoral pulses in the groin. He also palpates his kidneys, his abdominal cavity (belly and navel), he auscultates with his stethoscope the heart and the lungs of the baby.
Examination of the feet, hands and joints
The doctor will count the fingers of the newborn, look at the soles to identify possible clubfoot (foot turned inward or outward from the ankle), and check to see if their toes fold in properly. Then, the doctor examines his legs and hips. A test called “Barlow maneuver” can be performed to detect possible congenital hip dislocation. He then checks the shape and condition of the spine and his collarbones. Finally, he examines the shape of the skull, the fontanelss (which must be flexible), the baby’s mouth and palate.
Examination of measurements
The baby is weighed and measured by the midwife or childcare assistant. Note that a newborn loses between 5 and 10% of its weight in the days following delivery due to the evacuation of excess water. It will regain its weight after about three weeks. It also determines the head circumference which must be proportional to the size of the baby. Twenty-four hours later, the doctor takes his measurements and records them in the baby’s health record.
Baby’s vision and hearing test
The doctor observes the outward appearance of the baby’s eyes to detect a possible continuous flow of tears (lacrimation), a cataract or a malformation. He also carries out, in the hours following the birth, an otoacoustic emissions test (OAE) which makes it possible to determine if your baby hears well.
Examination of archaic reflexes
The doctor assesses the baby’s “primitive” reflexes which are involuntary automatic movements characteristic of newborns: this is the sucking, swallowing, grasping, the reflex of walking on a flat surface, the defense reflex (called Moro) or the reflexes of the cardinal points (Observed when you caress the baby’s cheek, he then turns his head to the side that is stimulated). Systematically sought by the doctor or midwife during the first examination, they testify to good nervous development and satisfactory muscle tone.
Maternity discharge examination
The examination carried out just before returning home allows the pediatrician to check that the baby is fit for extrauterine life and to encourage parents to take responsibility for the child. It also makes it possible to check the weight of the newborn and to define the potential complications or pathologies requiring observation or continuous medical treatment. At the end of this examination, the pediatrician draws up a first health certificate.