Congenital heart defects are common among individuals with 22q11.2 deletion syndrome (22q) and are also present in people who do not have the deletion. In some critical cases, the babies' hearts have not formed properly, and this can lead to severe health problems or even death. To complicate the matter, some babies appear normal at first, and their heart defects may not be recognized until their health has seriously deteriorated. When that happens, the babies may need more complex surgeries, and their chances of survival may decrease.
A newborn heart screening program has started, and it will be available to all babies born in Ontario by January 2018. It can identify newborn babies with critical congenital heart disease earlier so that they can be treated sooner and have better outcome. Between 24 to 48 hours of being born, all babies in Ontario will receive a "pulse oximetry" test. This test is painless and only takes about 5 minutes. The nurse or midwife will shine a special light through the baby's hand and toe to measure the amount of oxygen at each location. The results will be available within minutes. If there is a difference between the top limb and bottom limb, the doctors can diagnose a heart defect. This simple, non-invasive procedure can provide early detection of critical congenital heart diseases for 50 to 100 babies (with or without 22q) each year.
It is important to note that this newborn screening program for critical congenital heart diseases is only an interim measure before we have the 22q newborn screening. It would miss all those of babies with 22q who have no major detectable heart defect. In order to be sure that we can detect the 22q11.2 deletion in all babies who have it, we need true molecular newborn screening. Multiple 22q healthcare providers continue to discuss this possibility with policy makers. We look forward to the day when 22q become part of standard newborn screening programs so that everyone with 22q can receive timely and suitable medical care.
If you have any concerns about this topic, please call the Dalglish Clinic at (416) 340-5145 to make an appointment with one of our physicians.