Critical Congenital Heart Defects (CCHDs)

What are Critical Congenital Heart Defects (CCHDs)?

This term refers to several types of serious heart defects that are present from birth.  Some may be diagnosed during pregnancy using an ultrasound.  Others are identified using pulse oximetry screening 24 hours after birth.  Newborns with CCHD need surgery or other procedures in their first year of life. Seven CCHDs are the target for screening. 

Importance of Screening

Babies with CCHD often appear healthy at first.  Without screening they may be sent home before their heart defect is detected and are at risk of severe complications.  Symptoms can include abnormal heart beat, rapid breathing, low blood pressure, low levels of oxygen in the blood, and a blue or purple tint to the skin caused by low oxygen levels.  If untreated CCHD can lead to shock, coma, and death. 

How is screening done?

Pulse oximetry testing is completed to estimate the amount of oxygen in the baby's blood.  Low levels can be a sign of CCHD.  The test is completed by placing a sensor on the baby's skin which is painless and only takes a few minutes.  Screening is done between 24 and 48 hours of life.

What are the seven specific conditions screened for?

Hypoplastic left heart syndrome, pulmonary atresia with an intact ventricular septum, tetralogy of Fallot, total anomalous pulmonary venous return, transposition of the great arteries, tricuspid atresia, and truncus arteriosus are the targeted conditions.  Screening can also help providers detect other conditions and illnesses.  The pulse oximetry may miss a diagnosis therefore it is imperative that a clinical evaluation of every newborn be performed.

Where can I get more information?

If you have questions about your baby's newborn screening result, contact your baby's health care provider or call the Pennsylvania Department of Health's Newborn Screening and Follow-Up Program at 717-783-8143.