Diagnosing CHD
Many heart defects will be detected on ultrasound during pregnancy or after birth on physical exam. However some babies are not diagnosed early and do not show any signs at birth. It can also be harder to identify the bluish discoloration in babies with darkly pigmented skin.
Some children are not diagnosed until a few days or weeks after birth and even much later in life. Late detection can lead to complications, even death, since some types of CHD require immediate surgery or cardiac catheterization. This is known as critical congenital heart disease (CCHD). Infants with this critical defect comprise approximately 25% of all CHD. Unfortunately 30% of these infants appear normal at birth and are therefore identified late. Consequently, the American Academy of Pediatrics recommends universal screening for CCHD in all newborns.
The CCHD screen involves using a pulse oximeter to measure the amount of oxygen in the blood. Trained personnel perform this test at least 24 hours after birth prior to discharge home. Studies have shown that using the screen leads to earlier detection of CCHD and can also identify infants with other serious problems that may have otherwise gone undetected. However the CCHD screen is not perfect.
Some infants will be missed. Additionally, there could be false positives leading to unnecessary work up. Nevertheless the ease of use and minimal cost to perform this test is well worthwhile considering it can lead to earlier treatment and greater survival.
Dr. Launice is a Board certified Pediatrician trained in the specialty of Neonatology whose passion is caring for sick babies and helping Moms transition to life in the NICU with a preemie. She is an author, speaker and social media expert. Learn more about Dr. Launice by following her on Facebook, Instagram and Twitter @DrLauniceMD.