Screening tests

Screening tests
After birth, all babies undergo a series of tests to ensure they’re in good health.


From the moment they’re born and for the next several months, a doctor, nurse, or midwife will perform various tests to make sure your little one is doing well.

The first three days

The Apgar score

A baby’s Apgar score is assessed within the first few minutes of life. It evaluates five health markers: heart rate, breathing, muscle tone, reflexes, and skin colour. The Apgar score gives you a sense of the state of your baby’s health when they’re born. However, it doesn’t predict how they will develop over time.

The medical exam
  • A medical practitioner will clear the baby’s mouth, throat, and nose using a bulb syringe or suction catheter.
  • They will also take the baby’s temperature and perform a general examination to screen for deformities. The baby is then weighed and their height and head size are measured.
  • The baby’s basic reflexes will also be checked, most notably their sucking reflex, which will enable them to feed now that the umbilical cord has been cut.

Quebec Newborn Blood Screening Program

Before you head home with the newest member of your family (between their first 24 and 48 hours of life), a nurse or midwife will prick your baby’s heel to draw a few drops of blood. Hospital staff will ask for your consent before proceeding. The Quebec Newborn Blood Screening Program is free and available to all newborns across the province.

Please note that the Newborn Blood Screening Program is not the same as the Newborn Urine Screening Program. These two programs do not screen for the same diseases.

Blood samples are absorbed and dried with blotting paper and sent to the newborn blood screening lab. All samples collected across the province are analyzed and processed at the same place. The tests are performed to detect rare but serious diseases that could have serious consequences on a child’s life. The earlier these diseases are detected, the sooner treatment can begin, ideally before the first signs and symptoms appear.

Diseases detected through the blood screening program can be categorized into three groups: those affecting hormonal functioning (e.g., congenital hypothyroidism), those affecting the circulatory system (e.g., sickle cell anemia), and those affecting metabolism (e.g., phenylketonuria, hepatorenal or tyrosinemia type 1, and medium chain acyl-CoA dehydrogenase deficiency, known as MCADD).

You will only be informed of the results if they are positive or at the upper limit of the normal range (i.e., borderline). A borderline result means that the results are unclear. This can happen for a number of reasons including a contaminated sample or interference from a medication. A second sample will be requested to ensure a normal result. In either case, a nurse from the program will contact you with more details on how to proceed.

Bilirubin testing

Hospitals screen for jaundice at birth so that they may intervene rapidly, if needed, to prevent certain rare but permanent consequences. The Canadian Paediatric Society (CPS) advises mothers who return home with their newborns within 24 hours of delivery to make an appointment with a health care professional. The doctor will be able to test the baby for high bilirubin levels 3 to 5 days after birth. You can also enlist the services of a professional who can perform the test at home.

The first few months after birth

The urine screening program

After leaving the hospital or birthing centre, you will receive a kit with everything you need to collect a sample of your baby’s urine when they’re 21 days old. The kit includes an envelope you can use to return the sample by mail. This provincial program is not mandatory, but it is free. It allows for the early detection and treatment of certain hereditary diseases that affect metabolism. The program screens for a number of illnesses, including various disorders that affect the urea cycle, metabolic acidosis, and disorders that affect the metabolism of amino acids (i.e., the building blocks of proteins).

Hearing and vision exams

Before your child is 3 months old, a doctor should perform a comprehensive eye exam, including a complete examination of the skin and external eye structures, the conjunctiva, cornea, iris, and pupils. They will also perform a red reflex assessment to test your baby’s reaction to light to screen for any potential vision problems. This doesn’t replace the need for regular check-ups, though, especially if you have a family history of vision problems.

Screening for hearing impairment and deafness is not systematic in all Quebec hospitals. However, if you think your baby may have an issue with their hearing, it’s important to notify your doctor. Different screening tests can easily be done to test your baby’s hearing depending on their age. If any of these tests are positive or if the doctor has reasonable doubt to believe there is an issue with your baby’s hearing, additional tests will need to be performed.

Other tests

In certain situations, additional screening tests may be useful. Such is the case if one or more family members have been diagnosed with a hereditary disease, or if the baby’s mother contracted a contagious disease during her pregnancy. Talk to your doctor if you have any concerns.

Iron deficiency anemia

The Canadian Task Force on Preventative Health Care sometimes recommends a blood test for iron deficiency anemia, especially if the baby weighed less than 2.5 kg at birth.

 

Naître et grandir

Scientific review: Marie-Thérèse Berthier, clinical biochemist and head of the Quebec Newborn Blood Screening Program, and Audrey Larone Juneau, nurse at CHU Sainte-Justine
Research and copywriting: The Naître et grandir team
Updated: January 2017

 

Photo: BSIP/Astier

 

Sources

Please note that hyperlinks to other websites are not updated regularly, and some may have changed since publication. It is therefore possible that a link may not be found. If a link is no longer valid, use search engines to find the relevant information.

  • Auray-Blais, Christiane, et al. “Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules,” J Inherit Metab Dis, vol. 30, no. 4, August 2007, pp. 515–521.
  • Bernard-Bonnin, Anne-Claude, et al. (under the supervision of Jean Turgeon). Dictionnaire de thérapeutique pédiatrique Weber. 2nd edition, Gaëtan Morin, 2007, 1490 pp.
  • CHU de Québec–Université Laval. Quebec Newborn Blood Screening Program. www.chudequebec.ca
  • Doctissimo. L’examen neurologique. www.doctissimo.fr
  • Doré, Nicole, and Danielle Le Hénaff. From Tiny Tot to Toddler: A practical guide for parents from pregnancy to age two. Quebec City, Institut national de santé publique du Québec. www.inspq.qc.ca
  • Kaye, Celia I. and the Committee on Genetics. “Newborn screening fact sheets.” American Academy of Pediatrics, Pediatrics, vol. 118, no. 3, September 1, 2006. www.pediatrics.aappublications.org
  • Mayo Clinic. Well-baby exam: What to expect during routine checkups. www.mayoclinic.com
  • Ministère de la Santé et des Services sociaux du Québec. Quebec Portal. Québec Newborn Urine Screening Program www.formulaire.gouv.qc.ca
  • Canadian Paediatric Society. Community Pediatrics Committee. Vision screening in infants, children, and youth. www.cps.ca
  • Université de Montréal et al. L’ABCdaire, Guide de référence du praticien. 2004. Recommandations concernant le dépistage de l’anémie ferriprive.

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