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Key Findings: Prenatal Diagnosis of Congenital Heart Defects

A pregnant woman having an ultrasound

The journal Prenatal Diagnosis has published a new CDC study that focuses 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.

Congenital Heart Defects: CDC’s Activities

At CDC, we work to identify causes and prevention opportunities for congenital heart defects by applying a comprehensive public health approach:

  • Research: CDC funds the Centers for Birth Defects Research and Prevention, which collaborate on large studies such as the National Birth Defects Prevention Study (births 1997-2011) and the Birth Defects Study To Evaluate Pregnancy exposureS (to start in 2014). These studies work to identify risk factors for congenital heart defects.
  • Prevention: Studying the occurrence of congenital heart defects among the population holds promise for identifying risk factors that can be translated into prevention strategies.
  • Collaboration: CDC provides technical assistance to the Congenital Heart Public Health Consortium, a unique collaboration that brings together families, experts, and organizations to address congenital heart defects.

Reference for Key Findings Feature

Ailes EC, Gilboa SM, Riehle-Colarusso T, Johnson CY, Hobbs CA, Correa A, Honein MA, National Birth Defects Prevention Study. Prenatal diagnosis of non-syndromic congenital heart defects. [Epub ahead of print].

More Information

To learn more about congenital heart defects, please visit