Prenatal Congenital Defect Diagnosis on the Rise

This post was authored by Gerard R. Martin, MD, FACC, a past chair of the ACC’s Adult Congenital and Pediatric Cardiology Council and senior vice president, Center for Heart, Lung and Kidney Disease, Children’s National Health System.

In the last several years, cardiologists working with obstetricians have made great strides towards increased prenatal diagnosis of critical heart defects, with the proportion of defects diagnosed before birth increasing from 44.9 percent in 2004 to 63.8 percent in 2009, in a Massachusetts statewide population study. This is good news for the nearly 40,000 babies who are born with congenital heart disease every year – but we still have a long ways to go, as diagnosis rates continue to vary greatly between hospital centers and regions of the country.

A recent MedPage Today article entitled, “Heart Defects Still Often Found Late,” notes that once a newborn is discharged, rates of morbidity and mortality from a delayed diagnosis go up significantly. Delayed diagnosis affects the early care and can even mean an unnecessary or premature death.

Many states are beginning to combat late diagnosis of critical congenital heart disease (CCHD) by implementing pulse oximetry screening mandates for all newborns. As of August, 2014, 40 states have enacted pulse oximetry legislation or regulations, however that still leaves 10 states that have not enacted mandates for CCHD. The number of ‘saves’ reported by this inexpensive and painless test is notable, however, only a few states systematically track screening outcomes in a way that can be used at the national level to understand and improve timely diagnosis. These screenings are helping to further increase rates of pre-discharge diagnosis, but defects that don’t always cause hypoxemia will still present a challenge and the need for data collection either through birth defects registries and/or through state departments of health cannot be underestimated.

The College and the ACC’s Adult Congenital and Pediatric Member Section have been active advocates for pulse oximetry legislation or regulation in every state. These mechanisms are critical to increasing prompt diagnosis of defects. The ACC will continue to work with local ACC Chapters and medical and patient stakeholders to ensure the voice of the congenital heart disease patient, family and caregiver is heard at the local, state and national levels.

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