Primary Targets

The primary targets of CCHD screening are the “Cyanotic Seven” diseases. Pulse oximetry screening may also pick up other heart malformations and non-cardiac causes of cyanosis.

The Cyanotic Seven

  • Hypoplastic left heart syndrome
  • Pulmonary atresia with intact septum
  • Total anomalous pulmonary venous return
  • Transposition of the great arteries
  • Truncus arteriosus
  • Tetralogy of Fallot
  • Tricuspid atresia

Secondary targets

  • Coarctation of the aorta
  • Double outlet right ventricle
  • Ebstein’s anomaly
  • Interrupted aortic arch
  • Single ventricles

Additional non-cardiac causes of cyanosis potentially identified by CCHD screening

  • Infection
  • Persistent Pulmonary Hypertension of the Infant (PPHN)
  • Respiratory Illnesses

Contact NSO

Subscribe to the Submitter Bulletins to stay up to date on the latest newborn screening updates, or submit a question about newborn screening.