Critical Congenital Heart Disease
What is Critical Congenital Heart Disease (CCHD)?
Critical congenital heart disease (also called CCHD) is a broad term that refers to several different heart defects. A heart defect occurs when a baby's heart does not develop correctly. Approximately 2/1,000 babies are affected by CCHD each year in the U.S.A. baby born with one of these heart defects often has a low amount of oxygen in their blood. All of these heart defects require treatment, often involving surgery, to correct them soon after birth. If a baby has CCHD and does not receive treatment shortly after birth, the baby has a higher chance of developing serious health outcomes, including death. Infants with CCHD are able to receive necessary treatment sooner if the disease is detected early. Your baby’s doctor should work with a Cardiologist (doctor who specializes in treating problems with the heart and blood vessels) to ensure proper care.
What is a CCHD Screen?
The CCHD screening through pulse oximetry is one part of newborn screening. CCHD screening is a quick, noninvasive, gentle way to measure how much oxygen a baby has in his or her blood. CCHD is used as part of newborn screening to determine the health of your baby’s heart and lungs. Babies who have low oxygen levels, less than 95%, may need to be evaluated for CCHD, sepsis, respiratory problems, or other conditions. It is important for parents to know that pulse oximetry cannot identify every child with CCHD, however (7) different CCHDs can be detected by pulse oximetry screening. Most babies who pass the pulse oximetry screen will not have CCHD.
Pass: If the baby passes the screen (also called “negative” or “in-range” result), it means that the screening did not show signs of a low level of oxygen in the blood. A baby that passes the screen is unlikely to have a critical CHD. However, not all babies with a critical CHD will have a low level of oxygen in the blood detected during newborn screening. This means it is possible for a baby who passes the screen to still have a critical CHD or other CHD. Parents should know the signs and symptoms of CCHD.
Fail: If the baby fails the screen it means that the screening showed low levels of oxygen in the blood, which could be a sign of a critical CHD. This does not always mean that the baby has a critical CHD but could mean that more testing is needed. There may be other causes, such as breathing problems, for low levels of oxygen in the blood. The baby’s doctor might recommend that the baby get screened again or have more specific tests, like an echocardiogram (an ultrasound picture of the heart), to diagnose a critical CHD.
Information Courtesy of CDC
What are Signs and Symptoms of CCHD?
- Loss of healthy skin color
- Cyanosis (a bluish tint to the skin, lips, and fingernails)
- Rapid or troubled breathing
- Swelling or puffiness in the face, hands, feet, legs, or areas around the eyes
- Shortness of breath or tires easily during feedings
- Sweating around the head, especially during feeding
- Poor weight gain
Information Courtesy of Baby’s First Test
Information for Providers
It is the responsibility of the physician or midwife, whoever oversees the birth, to educate the family about the importance of each of the three (3) screens, to perform each of the three (3) screens or ensure the family is referred to have the screens performed. In the case that the family wishes to refuse one, two, or all three of the screens, it is the responsibility of the physician or midwife to have the parents complete and sign a Religious Waiver and enter this as an exception within your MSR (upload the completed Religious Waiver within the exception when prompted). Midwives, doulas, and other birth attendants are required by the state of Indiana to ensure newborn screening occurs and is reported to IDOH GNBS for each infant delivered. This means every midwife must be set up to submit Monthly Summary Reports (MSRs) in INSTEP.
Visit our Information for Midwives page for information and resources geared toward midwives and community birth partners.
For more information about MSRs, contact the Genomics and Newborn Screening Program by calling us at 888-815-0006 or emailing us at ISDHNBS@isdh.in.gov.
If you need help with newborn screening, contact the Genomics and Newborn Screening Program by calling us at 888-815-0006 or emailing us at ISDHNBS@isdh.in.gov.
Additional Critical Congenital Heart Disease Resources
Page last revised 02/03/2022 by DWard