Claire Dawson
Newborn screening tests are essential for a baby's health and can help with the early recognition and treatment of certain disorders. Hospitals test newborns for at least 21 disorders, with many states screening for 61 disorders suggested by the HHS. Newborns undergo about 30 tests in their first 48 hours of life. Hospitals test newborns for hearing loss, congenital heart defects, congenital adrenal hyperplasia, sickle cell disease, and maple syrup urine disease, among other disorders. These tests are done using a simple blood test, with drops of blood taken from the baby's heel.
| Characteristics | Values |
|---|---|
| Number of tests | 30 in the first 48 hours of life |
| Type of tests | Blood tests, hearing tests, pulse oximetry |
| Conditions tested for | Phenylketonuria (PKU), congenital hypothyroidism, hearing loss, critical congenital heart defects (CCHD), congenital adrenal hyperplasia (CAH), sickle cell disease, maple syrup urine disease, fatty acid oxidation disorders, amino acid metabolism disorders, endocrine disorders, hemoglobin disorders, congenital heart disease |
| Number of conditions | 21–61, depending on the state |
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What You'll Learn
Congenital heart defects
Pulse oximetry is a non-invasive test that can identify babies with CCHDs before they leave the newborn nursery. It measures the amount of oxygen in the blood using a pulse oximeter machine and sensors placed on the baby's fingers or toes. If the oxygen saturation level is below 90% in both the right hand and either foot, it is considered a failed test. A passing screening is indicated by an oxygen saturation level of at least 95% in both the right hand and either foot, with a difference of 3% or lower between the two readings.
Pulse oximetry screening for CCHDs is recommended for all newborns and is mandated in some states. It can detect 12 CCHD conditions and six non-CCHD, secondary conditions. However, it does not detect all CCHDs, and some babies with normal exam results may still have a CCHD or other congenital heart defect. Therefore, it is important to recognise that a baby with a failed screen can look completely well but have a significant underlying medical problem.
Other tests that can help diagnose CHDs in newborns include physical exams, chest X-rays, electrocardiograms (ECG or EKG), echocardiograms, and heart catheterization. While scientists don't fully understand what causes CHDs, they are associated with random gene mutations, and certain factors during pregnancy, such as smoking, alcohol consumption, and certain medications, can increase the risk.
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Hearing loss
Newborns undergo about 30 tests in their first 48 hours of life. These screening tests are essential to assure parents that their baby is healthy and help with the early recognition and treatment of certain disorders.
Automated Auditory Brainstem Response (AABR) is a type of hearing test that measures responses from the inner ear organ (the cochlea) and the auditory brainstem as sound travels up to the brain. Sticker electrodes are placed on the baby's head, and small earphones are placed in or around the child's ear. Sounds are then played through the earphones, and the electrodes measure whether there is a response from the baby's ear and auditory brainstem. If a baby hears normally, a response will be detected. If the baby has a significant hearing loss, no response will be detected.
Even if a newborn passes the initial screening, it is recommended to contact the child's pediatrician and get a referral to an audiologist for hearing testing if there are any concerns about the child's hearing. A newborn might be at risk for delayed onset hearing loss if there is a family history of childhood hearing loss, the child had a Neonatal Intensive Care Unit (NICU) stay of longer than 5 days, the child has a history of jaundice requiring blood transfusion, the child has undergone chemotherapy, or the child was exposed to certain infections before or after birth.
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Genetic disorders
Newborn screening tests are essential for assuring parents that their baby is healthy and can help with the early recognition and treatment of certain disorders. Hospitals test newborns for genetic disorders, some of which are inherited. These tests are usually carried out using a heel-prick to collect a small sample of the baby's blood.
Phenylketonuria (PKU)
PKU is an inherited disease where the body cannot metabolize a protein called phenylalanine. Without treatment, PKU can cause intellectual disabilities. Newborn screening for PKU is required in all 50 states.
Congenital Hypothyroidism
Congenital hypothyroidism is a condition where the baby produces too little thyroid hormone. This condition has become increasingly common, affecting approximately one in 2,500 to 3,000 babies born in the U.S.
Congenital Adrenal Hyperplasia (CAH)
CAH is an inherited disease of the adrenal glands, affecting the body's ability to produce the hormone cortisol, which helps control energy, sugar levels, blood pressure, and the response to stress. CAH may also impact genital development and puberty hormones.
Sickle Cell Disease
Sickle cell disease is an inherited disorder primarily affecting individuals of African, Hispanic, and Native American descent. The disease causes a severe form of anemia and increases the risk of severe infections, blood clots, and stroke.
Maple Syrup Urine Disease
Maple syrup urine disease is an inherited disorder common in the Mennonite population. It is caused by the body's inability to process certain amino acids, resulting in a characteristic odor of maple syrup in the baby's urine. Untreated, it can be life-threatening within the first two weeks of life.
The number of tests performed on newborns varies, and each state in the U.S. has different requirements for newborn screening. However, it is important to note that these tests are designed to protect babies and are only recommended after extensive research.
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Hormone-related disorders
Newborn screening tests are essential for assuring parents that their baby is healthy and for helping with the early recognition and treatment of certain disorders. Hospitals test newborns for a range of hormone-related disorders, which are not otherwise found at birth. These tests are usually carried out using a simple blood test, where blood is drawn from a heel prick and collected in a small vial or on special paper.
One such hormone-related disorder that hospitals screen for is congenital hypothyroidism, which is caused by a deficiency of thyroid hormones. This condition has become increasingly common, affecting approximately one in 2,500 to 3,000 babies born in the U.S. Another disorder that falls under this category is congenital adrenal hyperplasia (CAH), which is an inherited disease of the adrenal glands. Babies with CAH cannot produce sufficient amounts of the hormone cortisol, which plays a crucial role in controlling energy, sugar levels, blood pressure, and the body's response to stress. The incidence of CAH is estimated to be around one in 15,000 births, with a higher prevalence in a specific group of Eskimos in western Alaska.
In addition to these, hospitals also test for endocrine disorders, which affect the glands responsible for hormone production. These disorders can impact various bodily processes, including growth and development. Furthermore, newborns are screened for fatty acid oxidation disorders, which can hinder the body's ability to convert fat into energy properly. One example of this is medium-chain acyl-CoA dehydrogenase deficiency (MCAD), which can lead to sudden death in infancy or cause serious disabilities in survivors. MCAD occurs in approximately one out of every 15,000 births, predominantly affecting individuals of northwestern European descent.
The specific tests conducted can vary by state, and advancements in technology and treatments may lead to changes in the screening processes. These screenings are crucial for early diagnosis and intervention, which can significantly improve a baby's chances of a healthy life.
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Sickle cell disease
Newborn screening tests are essential to ensure a baby's health and can help with the early recognition and treatment of certain disorders. Hospitals test newborns for a variety of disorders, including sickle cell disease.
Newborn screening programs test for sickle cell disease and the sickle cell trait by pricking the newborn's heel and collecting blood drops on a special card. These samples are then sent to a lab to test the haemoglobin in the sample. The most common tests used are high-performance liquid chromatography, capillary electrophoresis, and isoelectric focusing. If the initial screening results indicate sickle cell disease or trait, further testing can confirm the diagnosis. Genetic testing can determine if an individual has one or two copies of the sickle cell gene, and blood tests can detect the presence and amount of the abnormal haemoglobin S protein.
Overall, newborn screening programs for sickle cell disease are vital for early detection and treatment, and nearly all newborns in the United States are screened for this disorder.
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Frequently asked questions
Newborn screening tests are essential to ensure a baby's health and to help with the early recognition and treatment of certain disorders.
Newborns undergo about 30 tests in their first 48 hours of life.
Newborn screening tests look for health conditions that aren't apparent at birth. These include rare genetic, hormone-related, and metabolic conditions that can cause serious health problems.
Hospitals test newborns for at least 21 disorders, with many states screening for 61 disorders suggested by the HHS. Some common tests include hearing loss, congenital heart defects, sickle cell disease, congenital adrenal hyperplasia, cystic fibrosis, and fatty acid oxidation disorders.
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