CHD, or congenital heart defect, refers to a group of abnormalities within the heart that are present in infants at birth, and it represents the most common type of birth defect, averaging about 1 in 110 babies. While there's no known way to prevent CHD, there are important and basic facts to know about screening, detecting, and managing. This week is Congenital Heart Defects Awareness Week, which is why we're taking a moment now to share key information.

Causes of CHD

For most cases of congenital heart defects, we don't know the cause. However, there are many things believed to play a role in causing CHD, including:

• If the pregnant person has diabetes, lupus, obesity, rubella in the first 3 months of pregnancy, phenylketonuria (PKU), or a connective tissue disease
• Changes in baby's genes or chromosomes 
• Parent, sibling, or family history of CHD
• Smoking before or during pregnancy
• Drinking alcohol or taking non-prescription drugs during pregnancy
• Taking certain medications  

It's important to talk with your care provider about your potential risk factors to determine what, if any, tests or screenings are recommended. 

Detecting CHD During Pregnancy

If a congenital heart defect is severe, it can often be detected in pregnancy, either during the 20 week anatomy scan ultrasound or during a doppler reading of baby's heart rate. Less severe heart defects may not be detected until after birth or when a child is older. If a heart abnormality is suspected during routine ultrasound or doppler reading, your care provider may order a fetal echocardiogram test, which is an ultrasound that focuses specifically on the structures of baby's heart. Depending on your risk factors for CHD, your provider may order a fetal echo even if an abnormality is not seen during a routine scan. If a defect is found, your care provider and a pediatric cardiologist will work with you to discuss treatment options and interventions that could happen during pregnancy, after birth, or both. 

CHD Screening at Birth

The critical congenital heard disease (CCHD) screening is a simple, non-invasive test that can be performed on newborns in the first few days of life. Since the procedure is a screening, it does not confirm the presence of a congenital heart defect but provides evidence that could require more testing. When caught early, a CHD is often treatable. The biggest worry about CHD is that it is often not detected until a baby or child starts experiencing symptoms. CHD can also be successfully treated later, but earlier intervention and treatment is always preferable.  

The CCHD screening test puts a pulse oximeter on baby's hand or wrist and another on one of baby's feet. A pulse oximeter is a painless tool that wraps around the finger, hand, wrist, or foot to measure the level of oxygen in the blood. When the CCHD screening test is performed, it will either result in a pass, fail, or try again, which means it landed somewhere in between. 

If your baby's CCHD screening shows an oxygen level that is out of the normal range, it does not necessarily mean that your baby has a congenital heart defect; it indicates that further testing is necessary. Your baby's doctor will be notified and there will be further evaluation prior to leaving the hospital. 

In many hospitals across the United States, CCHD screening is part of the routine newborn screening that is done in the first 48 hours after birth. However, this is not the case for every state or each hospital. You can find out if your hospital offers and requires this screening during a hospital tour or by calling the administrative offices. To be sure your child receives the screening, request that it be performed during your hospital stay. If you're giving birth in a birth center or at home, talk to your midwife or pediatrician about newborn screenings, including the CCHD screening.  

It's easy to get carried away with worries about your baby's health during pregnancy. The most reassuring thing you can do is become informed about your risks, and the options and care in place should you experience a problem. The good news is that there is so much that can be done to treat, manage, and care for birth defects, including CHD. Armed with facts and supported by knowledgeable care providers, you can feel more confident about you and your baby's health outcomes. 

References/Resources for Further Reading

Symptoms & Diagnosis of Congenital Heart Defects - American Heart Association

Important Questions to Ask Your Cardiac Team - Pediatric Congenital Heart Association

Follow Up Testing - Baby's First Test

Detection of a Heart Defect in the Fetus

Fetal Echocardiography

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