If you’re a parent-to-be, you’re bound to be familiar with the Apgar test. It’s a non-invasive observation of your newborn to check their heart rate, muscle tone, responsiveness, and breathing to determine if your child needs any emergency or additional care. However, there is also a process of screening newborns for diseases that is recognized worldwide as a form of preventative healthcare.
Why is it important to have newborn screening?
Newborn screening takes place within a baby’s first days to check for certain health disorders that may not be apparent at birth. Early screening for a range of potentially serious conditions makes it possible to begin treatment or management of the problem right away, even before symptoms become apparent.
When my children were babies, newborn screening was in limited availability where I live in South Africa. My second child appeared perfectly healthy despite being born 4 weeks prematurely. At 14 days old, he was diagnosed with bronchitis, which persisted despite treatment. Then, at 5 months, he contracted bacterial meningitis. His childhood was a frustrating and often lonely journey, marked by regular severe illness and infection. After 13 years of searching for answers, we finally got a diagnosis of primary immunodeficiency.
Had the same newborn screening capabilities been available back then, we would have had an early indication of a problem, which would have made a significant difference to his quality of life.
Types of newborn screening
In the US, newborn screening guidelines vary by state, but 3 types of testing usually occur:
1. Newborn blood tests
The first test involves taking a small blood sample by means of a heel prick. It allows doctors to check for rare genetic, metabolic, or hormone-related conditions. Most of the disorders tested for are inherited, and identifying them early means that treatment can begin before symptoms or poor health develop.
Newborn screening tests that involve a blood sample normally take place 24-48 hours after birth. This timing is important because in some cases, certain conditions may go undetected if a sample is drawn before 24 hours have passed. At the same time, waiting beyond 48 hours may result in a delay in life-saving treatment if a health condition is diagnosed. Some states require a second screen at 2 weeks old to ensure the most accurate results.
The screening of the newborn’s blood will not necessarily provide a definitive diagnosis but will alert your doctors if further testing is necessary.
2. Newborn hearing screening
The second type of test is a hearing test. One of two non-invasive, safe, and fast tests is used to test a baby’s hearing: otoacoustic emissions testing (OAE) or auditory brain stem response (ABR) testing. Doctors can even perform those while your newborn is sleeping.
3. Newborn congenital heart screening
Finally, a pulse oximeter will be used to check your newborn’s blood oxygen levels. The pulse oximetry test helps identify infants that may have a heart problem such as critical congenital heart defects (CCHD).
Common newborn screening tests
There are national recommendations for newborn screening tests, but each state decides which tests to include. For example, the Arizona Department of Health Services (ADHS) newborn screening panel screens for 29 rare or serious disorders.
While there isn’t one single newborn screening diseases list, the common tests check for:
Hormone (endocrine) disorders
Hormone disorders happen when the glands producing these hormones either make too little or too much. Developmental delays and growth problems can occur if the issue is not addressed. Endocrine screening may be carried out to check for:
- Hypothyroidism-underactive or non-functioning thyroid
- Congenital adrenal hyperplasia-a group of disorders that affect the adrenal glands
There are a number of metabolic disorders that affect the body’s ability to convert food into energy. These include amino acid disorders, fatty acid oxidisation disorders, and organic acid disorders. The most common metabolic disorders include:
- Phenylketonuria (PKU)-lack of the enzyme necessary for processing the amino acid phenylalanine
- Galactosemia-absence of the enzyme that processes galactose (a type of sugar)
- Maple Syrup Urine Disease (MSUD)-a disorder characterized by the body’s inability to properly process amino acids
- Homocystinuria-an enzyme deficiency that can cause blood clots, bone disease, and intellectual disability
- Biotinidase deficiency-a condition in which the body is unable to recycle biotin (one of the B vitamins)
A number of other uncommon metabolic disorders may also be screened for depending on the state where you live.
Hemoglobin (red blood cell) conditions
Hemoglobin disorders affect the red blood cells, which are responsible for distributing oxygen throughout the body. The following hemoglobin disorders are usually part of the screening:
- Sickle cell disease-misshapen red blood cells that are unable to carry oxygen efficiently and damage blood vessels
- Hemoglobin SC disease-a form of sickle cell disorder
- Beta thalassemia-a disorder that reduces the amount of hemoglobin, the iron-containing protein the body makes)
Immune system disorders
There are many types of immune disorders. They usually result in the immune system not functioning in the way it’s supposed to, which can make a person prone to regular severe infections and illnesses. The most severe form of primary immune deficiency (PID) may be screened for at birth. PID is an inherited disorder present from birth. Severe combined immunodeficiency (SCID) is a PID that results in the body’s inability to fight off even mild infections.
Other rare but serious conditions
- Cystic fibrosis-an inherited disorder that affects the lungs and digestive system
- Pompe disease-glycogen storage disease type II
- X-linked adrenoleukodystrophy-a genetic disorder that affects the nervous system and adrenal glands
- Spinal muscular atrophy-a group of inherited diseases that damage motor neurons – the nerves that control essential muscle activity-
Can parents opt out of newborn screening?
All states require newborn screening. It’s carried out routinely as early diagnosis can be life-saving and allow intervention to begin as soon as possible to ensure the best possible health outcomes for your baby. If you don’t want screening to occur for religious reasons, you should discuss this with your doctor or midwife.
Newborn screening usually takes place while the baby is in hospital. If you’re having a home birth or plan to give birth somewhere other than a medical facility, your midwife may be qualified to complete the blood and hearing tests. If not, you should make arrangements for the screening to take place at your local hospital or clinic within 24-48 hours of the birth.
If your baby is born preterm or with any immediate medical problems, your hospital will manage their screening according to their guidelines and protocols to make sure the test results are accurate.
A newborn screening test is not only a way of identifying serious illness early on. It can also help you make informed choices when thinking about future pregnancies. Newborn screening empowers you as a parent with the knowledge you need to address any health issues early and effectively.