Posts Tagged ‘pulse oximetry’

What is tetralogy of Fallot?

Friday, May 5th, 2017

You have probably heard about Jimmy Kimmel’s baby, Billy, being born with a critical congenital heart defect called tetralogy of Fallot (TOF). Fortunately, Billy received lifesaving heart surgery and is home from the hospital, reportedly doing well.

Congenital heart defects are the most common types of birth defects. Nearly 1 in 100 babies (about 1 percent or 40,000 babies) is born with a heart defect in the United States each year. And critical congenital heart disease (CCHD) is a group of the seven most severe congenital heart defects. About 4,800 babies each year are born with a CCHD. Babies with CCHD need treatment within the first few hours, days or months of life. Without treatment, CCHD can be deadly.

TOF is a rare congenital heart defect that affects about 1,660 babies each year in the United States. Babies born with this condition actually have four different problems with their heart. According to the CDC, they are:

  1. A hole in the wall between the two lower chambers―or ventricles―of the heart. This condition also is called a ventricular septal defect.
  2. A narrowing of the pulmonary valve and main pulmonary artery. This condition also is called pulmonary stenosis.
  3. The aortic valves, which opens to the aorta, is enlarged and seems to open from both ventricles, rather than from the left ventricle only, as in a normal heart. In this defect, the aortic valve sits directly on top of the ventricular septal defect.
  4. The muscular wall of the lower right chamber of the heart (right ventricle) is thicker than normal. This also is called ventricular hypertrophy.

Signs and Symptoms

After birth, signs and symptoms of heart defects can include:

  • Fast breathing
  • Gray or blue skin coloring (also called cyanosis)
  • Fatigue (feeling tired all of the time)
  • Slow weight gain
  • Swollen belly, legs or puffiness around the eyes
  • Trouble breathing while feeding
  • Sweating, especially while feeding
  • Abnormal heart murmur (unusual sounds heard during a heartbeat)


TOF can be diagnosed during pregnancy or after birth. During a prenatal ultrasound a doctor may be able to determine that there is a problem with the baby’s heart. A fetal echocardiogram (an ultrasound of just the heart) would then be ordered for further testing. An echocardiogram is an ultrasound of the baby’s heart that can show problems with the structure of the heart and how the heart is working.

However, TOF is usually diagnosed after the baby is born. In most cases, health care providers detect a heart murmur (often a “whooshing” sound heard between heartbeats) or cyanosis (baby’s skin turns blue).

To confirm the presence of a CCHD, a health care provider will order an echocardiogram.

TOF and CCHD can also be detected with newborn screening. Newborn screening checks for serious but rare conditions at birth. It includes blood, hearing and heart screening. All states require newborn screening, but they don’t all require screening for CCHD. Babies are screened for CCHD with a test called pulse oximetry (also called pulse ox). This test checks the amount of oxygen in your baby’s blood using a sensor attached to his finger or foot.


Babies born with TOF need to have surgery soon after they are born to widen the pulmonary valve. This allows the blood to reach the lungs and become oxygenated. They will also correct the hole between the lower chambers of the heart. And additional surgeries to replace valves may also be required.

Most babies born with TOF go on to be active and healthy, but they will need to be followed by a cardiologist throughout their lives. We’re glad Jimmy Kimmel’s baby received prompt care and continues to do well.


Heart defects develop in the early weeks of pregnancy when the heart is forming, often before you know you’re pregnant and most of the time, there is no known cause of a congenital heart defect. That is why many March of Dimes grantees are pursuing a variety of approaches aimed at preventing heart defects and improving their treatment.

New screening test for CCHD

Friday, September 23rd, 2011

Dr. Jennifer L. Howse, president of the March of Dimes, today issued the following statement on adding a new screening test for newborns to the Secretary of Health and Human Services’ Recommended Uniform Screening Panel:

“Today, based on the recommendation of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children, and the approval of Secretary Kathleen Sebelius, the March of Dimes will add critical congenital heart disease (CCHD) to the list of newborn screening tests we recommend, for a total of 31 conditions.

“The Secretary’s acceptance of the CCHD test is good news for babies and families.  The March of Dimes is the only consumer group in the country with a recommended list of newborn screening tests.  We will work with every state and the District of Columbia to ensure this test is given to every child at birth. 

“Heart defects are the most common birth defects in the United States, and about 4,800 (or 11.6 per 10,000) babies born every year have the life-threatening heart conditions known collectively as CCHD.  Routine pulse oximetry to measure oxygen levels can successfully identify newborns with CCHD before the babies die suddenly or even begin to show symptoms.  Early detection will give doctors the chance to intervene and save babies’ lives.  We urge every state to educate parents prospectively about the benefits and availability of newborn screening.

“The March of Dimes is the leader in advocacy for comprehensive newborn screening for all babies in the United States, regardless of where they are born.  Our policy is to support screening for specific conditions when there is a documented medical benefit to the affected infant from early detection and treatment; there is a reliable screening test for the disorder; and early detection can be made from newborn blood spots or other specific means.

“Newborn screening is a rapidly changing field.  We know that expert opinion on newborn screening will continue to evolve as medical evidence mounts, and we continue to stand ready to update our recommendations as needed to the states and to the public.”