Lifesaving tests for newborns

By Jodi Mohrmann - Managing Editor of special projects
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LOS ANGELES, Cali. - Every year, more than four million babies are born in the U.S.  All of them are screened for certain health conditions, but the tests your baby receives depends on the state in which you live.

Today, baby Gael is happy and healthy, but just hours after he was born his parents got devastating news.

"It was really hard to hear," said Luvy Rodriquez, Gael's mom.

"I was just destroyed," said Davis Villegas, Gael's dad.

Gael had a serious congenital heart defect and needed major surgery.

"It was the worst six hours I have ever been through," Villegas said.

The operation was a success and Gael's parents feel lucky that a newborn screening test detected the problem before they even left the hospital. 

"It can be dangerous and even life-threatening if they are sent home without being diagnosed," explained Gregory Perens, MD, Pediatric Cardiologist, Mattel Children's Hospital UCLA.

Pulse oximetry takes just a few minutes and is the only screening for heart defects, but tests like this aren't mandatory everywhere. Each state screens for anywhere from four to 30 disorders.

The sickle cell screening detects the blood disorder that occurs in about one in every 500 African American births.

The infant hearing screening is performed in most, but not all states. If yours doesn't offer it, get your baby screened within three weeks of birth.

The cystic fibrosis screening can help doctors detect and treat lung and nutritional problems sooner.

Also, the toxoplasmosis test detects an infection that can invade the brain, eye, and muscle. It affects one in 1,000 babies, but less than a handful of states screen for it.

Baby Gael's parents are grateful that the newborn test picked up his problem before it was too late.

"Every day that we have him, and every month that he turns one more month we thank God that we have him," Rodriquez said.

We spoke with a Jacksonville pediatrician and she says in Florida they perform all the newborn tests except for the toxoplasmosis test.  They will do that one if there's reason to believe it's necessary, but it's not standard. The American Academy of Pediatrics recently called for a more standardized newborn screening program.

Additional Information:

HOW DO STATES DECIDE ON TESTS:   Newborn screening is the practice of testing every newborn for harmful or potentially fatal disorders that are not otherwise apparent at birth. Usually, state decisions about what to screen for have been used on weighing the costs against the benefits.  "Cost" considerations include: the risk of false positive results, the availability of treatments proven to help the condition, and financial costs.  States often face conflicting priorities when deciding budgets.  For example, a state may face a choice between expanding newborn screening and ensuring that all expectant mothers get proper prenatal care.  (Source:

TESTS:  Newborn screening varies by state and is subject to change, especially because of advancements in technology.  Congenital Hypothyroidism is the most commonly identified disorder in routine screening. Babies who have this don't have enough thyroid hormone and develop retarded growth and brain development. If the disorder is detected early, a baby can be treated with oral doses of thyroid hormone to permit normal development.  Other diseases commonly tested for include:

Congenital Heart Disease (CHD) –CHD is the most common birth defect.  Infants with CHD have abnormal structure to their heart which creates unusual blood flow patterns.  Pulse oximetry, or "pulse ox," is a simple test that is used to measure the percent oxygen saturation of hemoglobin in the arterial blood and the pulse rate.

Sickle Cell Disease—This is an inherited blood disease in which red blood cells stretch into abnormal "sickle" shapes and can cause episodes of pain, damage to vital organs like the lungs and kidneys.  Studies show that newborn screening can alert doctors to begin antibiotic treatment before infections occur and to monitor symptoms. The screening test can also detect other disorders affecting hemoglobin (the oxygen-carrying substance in the blood).

Hearing Screening—Most, but not all states require newborns' hearing to be screened before they are discharged from the hospital.  If the baby isn't screened at birth, then it's important to do so within their first three weeks.  Children develop critical speaking and language skills in the first few years of life, and if a hearing loss is caught early, doctors can treat it so that it doesn't interfere with that development.

Cystic Fibrosis—Cystic fibrosis is an inherited disorder expressed in the various organs that causes cells to release a thick mucus, which could lead to many other problems like poor growth and chronic respiratory disease.  Detecting the disease early may help doctors reduce the lung and nutritional problems associated with cystic fibrosis, but the real impact of newborn screening is yet to be determined.

Toxoplasmosis—This is a parasitic infection that can be transmitted through the mother's placenta to an unborn child.  The benefit of early detection and treatment is uncertain.    (Sources: and

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