Erica Thayer   |   July 8, 2019

The Most Common Birth Defect


1 in 100

Do you know which birth defect is the most prevalent in the U.S. and worldwide? I’ll give you a hint, it occurs in 1 out of every 100 births. Maybe you are thinking Downs Syndrome? Or hearing loss even? Downs Syndrome affects approximately 1 in 700 births and hearing loss is the third most prevalent condition present at birth which affects approximately 1 in 3,000. But, the #1 most common birth defect worldwide is…drumroll please…congenital heart disease (CHD). 

What is CHD?

CHD stands for Congenital Heart Disease or Congenital Heart Defect. Both terms are used interchangeably. Congenital means “present at birth.” So CHD, in its simplest terms, is when a heart defect is present at birth. Heart defects include any structural malformation of the chambers, valves, or vessels of the heart. It can also be an abnormal rhythm of the heart.

What causes CHD?

The short answer is, for most cases, we really don’t know. A few known causes and risk factors have been identified, but more research is needed to better understand exactly when and why CHD occurs. 

85-90% of cases have no known cause or origin

In these cases, the cause is theorized to be some form of multifactorial inheritance. This means that a possible combination of genetics from both parents and possibly unknown environmental factors are involved in causing the heart defect. 

5% of cases are caused by chromosomal abnormalities

3-5% are due to single gene defects

2% can be attributed to possible environmental factors

How is CHD detected?

Often more severe types of CHD are discovered during pregnancy at the anatomy ultrasound, but not always. Most states have not implemented a cardiac screening protocol to try and identify babies with CHD whose condition was undetected in utero. Despite increased awareness efforts, many cases of CHD go undiagnosed for days, weeks, months, or even years depending on the severity. 

CHD Warning Signs

Here are a few warning signs to look for that may indicate an underlying congenital heart defect in an infant:

Difficulty gaining weight 

Excessive fatigue – must be awoken often to feed 

Difficulty feeding – falling asleep quickly, sweating while eating 

Rapid breathing or retracting – nostrils flaring and ribs visible when breathing 

Dusky blue or purple coloring – especially around the eyes, mouth and nail beds

Now you’re well versed with a few facts on CHD, the world’s most common birth defect. Tell a friend and help spread awareness for this underfunded condition!

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