Prenatal Diagnosis of Congenital Heart Defects

A pregnant woman having an ultrasound

In 2013, the journal Prenatal Diagnosis published a CDC study that focused on mothers of babies with a congenital heart defect (CHD). The study looked at the timing of when mothers receive their baby’s CHD diagnosis, meaning whether it is during pregnancy or after the baby is born. Researchers from CDC and the National Birth Defects Prevention Study (NBDPS) found that 15% of women reported that they first learned about their baby’s congenital heart defect (CHD) during pregnancy (called a prenatal diagnosis). Many times it is critical that a baby receives their CHD diagnosis during the mother’s pregnancy to reduce serious complications after the baby is born. These research findings will help healthcare providers identify opportunities to increase the number of women who are offered and have access to prenatal screening for CHDs during pregnancy. You can read the abstract of the article here. Read more below for a summary of findings from this article.

Main Findings from this Study

  • Researchers found that about 15% of mothers who had a baby affected by a CHD reported getting their baby’s diagnosis while they were pregnant, although this percentage varied by the type of CHD and where the mother lived when she had her baby.
  • Mothers were more likely to report that they had received a diagnosis during pregnancy if
    • They were over 30 years of age
    • They had type 1 or 2 diabetes
    • Someone else in their family had a CHD
    • They were carrying twins or multiple babies
    • Their baby had a more complex heart defect or other birth defects in addition to the CHD
  • Mothers were less likely to report that they had received a diagnosis during pregnancy if
    • They were Hispanic
    • They were overweight or obese
    • They had hypertension

About this Study

  • Researchers used data on babies born with a CHD between 1997 and 2005 from the National Birth Defects Prevention Study, an ongoing study of birth defects in the United States.
  • Participating states were: Arkansas, California, Georgia, Iowa, Massachusetts, New York, North Carolina, Texas and Utah.
  • Researchers looked at how often women with pregnancies affected by a CHD reported that they received their baby’s CHD diagnosis during their pregnancy. They also looked at factors that might have affected whether a baby received a prenatal diagnosis.

Heart Defects: CDC’s Activities

The Centers for Disease Control and Prevention (CDC) works to identify causes of CHDs and ways to prevent them. We do this through:

  1. Surveillance and Disease Tracking:
    1. CDC funds and coordinates the Metropolitan Atlanta Congenital Defects Program (MACDP).  CDC also funds population-based state tracking programs. Birth defects tracking systems are vital to help us find out where and when birth defects occur and whom they affect.
    2. CDC funds projects to track CHDs across the lifespan in order to learn about health issues and needs among all age groups.
    3. CDC, in partnership with March of Dimes, surveyed adults with CHDs to assess their health, social and educational status, and quality of life. The survey is called CH STRONG, Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG.
  2. Research: CDC funds the Centers for Birth Defects Research and Prevention, which collaborate on large studies such as the National Birth Defects Prevention Study (NBDPS) (births 1997-2011) and the Birth Defects Study To Evaluate Pregnancy exposureS (BD-STEPS) (began with births in 2014). These studies are working to identify factors that put babies at risk for birth defects, including heart defects.
  3. Collaboration:
    1. CDC is assessing states’ needs for help with CCHD screening and reporting of screening results. CDC helps states and hospitals better understand the cost and impact of CCHD screening.   CDC also promotes collaboration between birth defects tracking programs and newborn screening programs to improve understanding of the effectiveness of CCHD screening.
    2. CDC provides technical assistance to the Congenital Heart Public Health Consortium (CHPHC). The CHPHC is a group of organizations uniting resources and efforts in public health activities to prevent congenital heart defects and improve outcomes for affected children and adults. Their website provides resources for families and providers on CHDs.

Reference for Key Findings Feature

Ailes EC, Gilboa SM, Riehle-Colarusso T, et al. Prenatal diagnosis of nonsyndromic congenital heart defects. Prenat Diagn. 2014;34(3):214-222.

More Information

To learn more about congenital heart defects, please visit