Critical Congenital Heart Disease
Birth defects are one of the leading causes of infant mortality in Ohio. According to the American Academy of Pediatrics nearly one percent of all newborns have a congenital heart defect. Critical congenital heart defects (CCHD), at a rate of about 18 per 10,000 births, are the leading cause of birth defect-associated illness and death.
Some heart defects are diagnosed during the prenatal period. However, some babies are born appearing healthy and without symptoms who may have serious critical congenital heart diseases. These infants will need surgery or intervention within the first year of life.
In 2014 Ohio implemented universal newborn screening for critical congenital heart diseases. Legislation and administrative rules, Ohio Revised Code 3701-5010 and Ohio Administrative Code 3701-54-03, require all newborns to be screened for CCHD using pulse oximetry prior to hospital discharge, and for hospitals to report the screening results to the Ohio Department of Health.
Screening newborns by pulse oximetry prior to hospital discharge has been shown to be an effective strategy for identifying babies with 7 specific CCHDs. Early diagnosis of CCHDs improves health outcomes for babies and reduces health care costs.
Newborn screening for CCHDs is listed on the national Recommended Uniform Screening Panel, developed by the U.S. Secretary of Health & Human Services Ad Hoc Advisory Committee on Heritable Disorders in Newborns and Children. The purpose of this committee is to develop a uniform panel of disorders that all states should include for newborn screening. These recommendations ensure that babies are screened in a uniform manner independent of their geographic location.
Importance of Screening for CCHD
Some CCHDs may be diagnosed during pregnancy using a special type of ultrasound called a fetal echocardiogram, which creates pictures of the heart of the developing baby. However, some heart defects are not found during pregnancy. In these cases, heart defects may be detected at birth or as the child ages.
Facts about Congenital Heart Disease
Congenital heart diseases (CCHDs) are the most common type of birth defect. As medical care and treatment have advanced, babies with a CCHD are living longer and healthier lives. Learn more facts about CCHDs below.
What are Congenital Heart Defects (CCHDs)?
CCHDs are present at birth and can affect the structure of a baby’s heart and the way it works. They can affect how blood flows through the heart and out to the rest of the body. CCHDs can vary from mild (such as a small hole in the heart) to severe (such as missing or poorly formed parts of the heart). About one in four babies born with a heart defect has a critical CCHD (also known as critical congenital heart disease). Babies with a critical CCHD need surgery or other procedures in the first year of life.
What is Critical Congenital Heart Disease (CCHD)?
In the United States, about 7,200 babies born every year have critical CCHDs. Typically, these types of heart defects lead to low levels of oxygen in a newborn and may be identified using pulse oximetry screening at least 24 hours after birth. A baby with a critical CCHD needs surgery or other procedures in the first year of life. Other heart defects can be just as severe as critical CCHD and may also require treatment soon after birth.
How is Newborn Screening for CCHD Done?
Newborn screening for CCHDs involves a simple bedside test called pulse oximetry. This test estimates the amount of oxygen in a baby’s blood. Low levels of oxygen in the blood can be a sign of a CCHD. The test is done using a machine called a pulse oximeter, with sensors placed on the baby's right hand and one foot(either right or left). The test is painless and takes only a few minutes. Pulse oximetry screening does not replace a complete history and physical examination, which sometimes can detect CCHD before oxygen levels in the blood become low. Pulse oximetry screening, therefore, should be used along with the physical examination.
Timing of CCHD Screening
Screening is done when a baby is at least 24 hours of age, or as late as possible if the baby is to be discharged from the hospital before he or she is 24 hours of age.
Pulse Oximetry Screening Results
Pulse oximetry screening is most likely to detect seven of the critical CCHDs. These seven main screening targets are hypoplastic left heart syndrome, pulmonary atresia, tetralogy of Fallot, total anomalous pulmonary venous return, transposition of the great arteries, tricuspid atresia, and truncus arteriosus. Other heart defects can be just as severe as the main screening targets and also require treatment soon after birth. However, pulse oximetry screening may not detect these heart defects as consistently as the seven disorders listed as the main screening targets.
Centers for Disease Control & Prevention
Baby’s First Test
Federal Maternal & Child Health Bureau
American Academy of Pediatrics
Allyson Van Horn
Critical Congenital Heart Disease Newborn Screening
Ohio Department of Health
246 N. High St.
Columbus, Ohio 43215