Saving Babies with Texas Newborn Screening

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When a baby is sick, every minute counts. Newborn Screening (NBS) nurses work six days a week, including holidays, protecting Texas babies. Newborn screening is one of the most important things done for a newborn baby’s health. Most babies with screened disorders look healthy at birth. The only way to detect a dangerous disorder is through screening. 

Tests are done using drops of blood taken from a baby’s heel and placed on a card. The card is sent to the Texas Department of State Health Services (DSHS) Laboratory for screening. The screening can detect medical conditions that, if not addressed early, would cause serious problems like developmental delays, major illness or death. Babies with abnormal newborn screens require immediate care. 

Blood Spot Tests Are Done Twice
Every baby born in Texas gets two newborn screening blood tests that check for 53 rare disorders. The first test is done 24 to 48 hours after birth. The second one is done at the baby’s first well baby checkup at one to two weeks old.

Lab results are sent to NBS nurses at the DSHS who call the infant’s doctor, so the baby gets follow-up care without delay. These nurses work diligently during the first weeks of an infant’s life to get babies the care they need.

The Newborn Screening Program saves lives. Hui-Ping “Jennifer” Huang, R.N., is a NBS nurse with DSHS. She shows how NBS, quick action and promoting awareness led to very positive outcomes. Without the DSHS Newborn Screening Program, things could have ended much differently for each family.

Holiday Treatment Delay

During the New Year’s Holiday, Jennifer received a NBS result labeled “urgent abnormal.” Results labeled “urgent abnormal” mean immediate action. In this case, the newborn had a very elevated screen result for Congenital Adrenal Hyperplasia (CAH). 

Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia (CAH) is an endocrine disorder, caused by decreased or absent production of certain adrenal hormones. If not treated, it can lead to complications, including death.

Jennifer spoke to the on-call doctor to notify them of the urgent result. 

“Today is a holiday, and you’re calling me with newborn screening results?” the doctor asked. 

Jennifer knew this baby needed help immediately. “I gave the doctor the signs and symptoms of salt-wasting CAH,” Jennifer said. “After talking, the doctor agreed that the baby was showing signs of adrenal crisis.”

With Jennifer’s recommendation, the doctor ordered immediate evaluation, blood work, and consultation with a pediatric endocrinologist. And the doctor sent the baby to the hospital emergency room. 

Salt-Wasting Congenital Adrenal Hyperplasia
In salt-wasting CAH, the adrenal glands make too little aldosterone, causing the body to be unable to retain enough sodium (salt). Too much sodium is lost in urine (thus the name, "salt-wasting"). If undiagnosed, symptoms of classic salt-wasting CAH appear within days or weeks of birth.

Hospital blood work confirmed the medical emergency. The baby was in shock from CAH, which could have serious complications, including death. A pediatric endocrinologist diagnosed salt-wasting CAH and treated the baby. NBS results and Jennifer’s insistence on immediate evaluation and treatment saved the baby’s life. 

Unable to Reach Baby’s Doctor

On another occasion, a baby’s newborn screen showed unusually high levels for CAH. Jennifer called the infant’s doctor’s office to tell them about the NBS results. Jennifer followed up with the provider daily for a week. When it became evident that the doctor’s office could not reach the baby’s mother, she reached out to a social worker for help.

The social worker found the mother and baby the next day. Additional blood work and a second newborn screen were done immediately. Both came back with very high levels. Quick action got the baby to a pediatric endocrinologist for treatment. The persistence of the NBS staff and social worker saved the baby’s life.

Looks Can Be Deceiving

At another hospital, new parents carefully strapped their baby into an infant car seat. The baby looked and acted like a normal, healthy newborn; baby and mother were discharged home.

The newborn screen told a different story. Jennifer got the results. She knew that she needed to act immediately. She called the baby’s doctor who agreed to do more testing.

Jennifer followed up on the lab results.

“We are aware of the very abnormal NBS results,” the doctor said. “We saw the infant yesterday and it was in stable condition. The lab results were normal, and there were no signs or symptoms of CAH.”

When Jennifer did not get results from the repeat blood work, she tried to reach the doctor. No one returned her call. When she finally spoke to the doctor, two days later, they again felt there was no reason for alarm; the baby’s lab tests had come back normal. Jennifer knew there was.

Jennifer emphasized the signs and symptoms of salt-wasting CAH and the fact that it sometimes takes daily blood tests to make sure a baby is okay. 

The doctor agreed it was better to be careful. He ordered more blood tests. This time the baby was diagnosed with salt-wasting CAH and received immediate treatment.

The next day, Jennifer received a phone call from doctor. He thanked her for her persistence in making sure the baby got medical attention. Treatment for CAH saved the baby’s life.

Newborn Screening Testing: For Your Baby’s Health

Timely newborn screening and response saves babies’ lives. Make sure your baby is tested. Ask your doctor for the results and respond quickly if your doctor asks you to bring your baby in for more testing. Learn more about why newborn screening testing is important. 

Last updated September 26, 2018