How do you screen a newborn for congenital heart disease?

Newborn screening for critical CHDs involves a simple bedside test called pulse oximetry. This test estimates the amount of oxygen in a baby’s blood. Low levels of oxygen in the blood can be a sign of a critical CHD. The test is done using a machine called a pulse oximeter, with sensors placed on the baby’s skin.

How do you screen for heart defects?

Tests

  • Electrocardiogram (ECG). This painless test records the electrical signals in the heart.
  • Chest X-ray.
  • Pulse oximetry.
  • Echocardiogram.
  • Transesophageal echocardiogram.
  • Exercise tests or stress tests.
  • Heart CT scan and heart MRI.
  • Cardiac catheterization.

What does PKU measure?

A PKU screening test is a blood test given to newborns 24–72 hours after birth. PKU stands for phenylketonuria, a rare disorder that prevents the body from properly breaking down a substance called phenylalanine (Phe). Phe is part of proteins that are found in many foods and in an artificial sweetener called aspartame.

How are heart defects diagnosed in babies?

Congenital heart disease may initially be suspected during a routine ultrasound scan of the baby in the womb. Specialist ultrasound, called foetal echocardiography, will then be carried out at around 18 to 22 weeks of the pregnancy to try to confirm the exact diagnosis.

Why is PKU testing mandatory?

Although PKU is rare, all newborns in the United States are required to get a PKU test. The test is easy, with virtually no health risk. But it can save a baby from lifelong brain damage and/or other serious health problems. If PKU is found early, following a special, low-protein/low-Phe diet can prevent complications.

What tests are included in the newborn screening?

What are newborn screening tests?

  • Phenylketonuria (PKU). PKU is an inherited disease in which the body cannot metabolize a protein called phenylalanine.
  • Congenital hypothyroidism.
  • Galactosemia.
  • Sickle cell disease.
  • Maple syrup urine disease.
  • Homocystinuria.
  • Biotinidase deficiency.
  • Congenital adrenal hyperplasia.

What is a positive PKU mean?

Positive phenylketonuria (PKU) test: The test looks for phenylalanine levels in the blood, which should be less than 2 mg/dL. A blood phenylalanine level of more than 4 mg/dL is considered excessive and could indicate that the child has PKU.