Birth screening tests

Birth screening tests

In the minutes following delivery, and then before you leave the maternity ward, your baby will undergo various tests and examinations to ensure that he is in good health. And, if necessary, to put in place an early adapted care in order to ensure a harmonious development.

The Apgar score

As soon as it comes into the world, your baby is weighed, measured and quickly examined by a midwife, a childcare center or a pediatrician in order, in particular, to establish his Apgar score. This assessment was developed in the 50s by the American anesthesiologist Virginia Apgar to assess the good adaptation of newborns to ectopic life and to determine whether or not they needed specific care such as oxygenation.

This score is so simple and effective that it bears his name and still applies. It is based on 5 criteria, each rated between 0 and 2, and observed by the medical team at 1, 5 and then 10 minutes of life: baby’s muscle tone, reflexes, breathing, heart rate, coloring of his skin. A score of 10/10 is of course ideal, but scores between 7 and 10 are common. They are sometimes explained quite simply by a slightly bluish skin or the absence of spontaneous cry. They do not require any particular care, unlike scores lower than 7, which may justify the fitting of an oxygen mask, the aspiration of phlegm encumbering the throat, placement in an incubator… This Apgar score is systematically recorded at the beginning. of the health record.

Guthrie’s test

Three days after birth, a nursery nurse will ask for your permission to collect a few droplets of blood from the heel fat or on the top of your baby’s hand. This Guthrie test, or neonatal screening (DNN), is not compulsory, but very few parents refuse this procedure because it makes it possible to detect and treat very early rare diseases which do not give, the first weeks, any symptoms. . Furthermore, the sample is taken very quickly and, in many maternity hospitals, the newborn is offered to suck a compress soaked in sugar water to limit stress and pain.

The blood samples collected on a blotting paper are sent during the day to the laboratory which will look for 5 rare diseases:

  • Phenylketonuria. This severe deficiency of an enzyme made by the liver causes serious brain damage that can be avoided by starting a specific diet early. This disease affects one in 16000 newborns.
  • Congenital hypothyroidism. Insufficient production of thyroid hormones can lead to severe mental retardation. It will also have an impact on the baby’s tone, his sucking capacities, the maintenance of his body temperature… Lifelong supplementation of synthetic thyroid hormones allows the children concerned to lead a normal life. Hypothyroidism affects about 1 in 3000 newborns.
  • Congenital adrenal hyperplasia. This abnormality of the adrenal glands, located just above the kidneys, causes in the absence of treatment various disorders, in particular disturbances of the salt balance (risk of severe dehydration), growth and puberty. A lifelong hormonal treatment makes it possible to overcome this. This disease affects 1 in 18500 newborns.
  • Cystic fibrosis. This genetic disease, which affects around 1 in 4000 children, can affect different organs, including the pancreas and the lungs. Rigorous and regular medical monitoring, supplemented by the prescription of appropriate drugs and physiotherapy sessions, gives young patients a better quality of life and reduces the progression of the disease.
  • Sickle cell anemia. This genetic blood disease linked to a hemoglobin abnormality manifests itself from the 3rd month of life by infections, painful crises, acute anemia… It therefore requires appropriate management. Systematic in the overseas departments where the disease is frequent, its screening is only offered in mainland France to children from the West Indies, black Africa and North Africa. Sickle cell disease affects about 1 in 2200 newborns.

If the results do not show one of the 5 diseases detected, the analyzes will not be given to you directly, but they will be available to you at the maternity hospital. If one of the 5 diseases is detected, you will be informed within 15 days of the sample. The result for cystic fibrosis is a little later.

In some establishments and in agreement with the medical team, the sample can be performed by a liberal midwife as part of the home return support service offered by Health Insurance. This offer is intended for women who have joined the service and who leave the maternity hospital within 72 hours (3 days) after a vaginal delivery or within 96 hours (4 days) after a cesarean delivery.

The bilirubin test, in case of jaundice

In most cases, jaundice (or jaundice) in the newborn is not serious and goes away on its own. It is explained by an abnormally high amount of bilirubin (yellow pigment) in the body, an excess itself due to the immaturity of the liver. But when these levels reach a critical threshold, they can lead to serious brain damage. This is why, in the presence of jaundice, the pediatrician adds the measurement of the level of bilirubin in the blood to the usual newborn screening.

Screening for hearing problems

Screening for permanent neonatal deafness has been compulsory since 2012. This simple and painless test, which can be carried out in less than 10 minutes by childcare assistants from the 36th hour of life, is gradually becoming widespread in all maternity hospitals. In the event of a result giving rise to suspicion of a problem and after a second test to limit false positives, babies and their parents are referred to an Expert Center for Hearing and Child Balance.

In France, 1 in 1000 children are born with severe to profound bilateral deafness. This prevalence reaches 2,5 per 1000 including all degrees of deafness and even 4 per 1000 when counting unilateral deafness. Early diagnosis and treatment can limit the impact of these hearing disorders on language development.

The maternity leave examination

Before leaving the maternity ward, your newborn baby must be examined by a pediatrician. The latter records his observations in your child’s health record which will be given to you on this occasion. At the same time, he transmits them to the maternal and child protection services (PMI) in the form of a so-called “8th day” health certificate.

During this physical examination, the pediatrician will again measure and weigh your baby. He will check his heart rate and breathing, feel his stomach, collarbones, neck, examine his genitals and fontanels. He will also check his eyesight, ensure the absence of congenital dislocation of the hip, monitor the proper healing of the umbilical cord … Finally, he will carry out a neurological examination by testing the presence of so-called archaic reflexes: baby grips the finger that is given to him, turns his head and opens his mouth when we brush his cheek or lips, makes walking movements with his legs …

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