What is newborn screening?

According to the American Academy of Pediatrics, 4.1 million newborns in the U. S. undergo newborn screening for congenital disorders each year. Of these, 4,000 infants are diagnosed with a condition. September is Newborn Screening Awareness Month –– did you know about this public health service in every U.S. state?

Newborn screening identifies conditions that can affect a child’s long-term health or survival. Newborn screening includes a series of tests that check for rare genetic, hormone-related and metabolic conditions that may not be apparent at birth. Finding and diagnosing these conditions as early as possible gives health care providers and parents the ability to provide children the treatments they need to survive, prevent disability and live a healthy life.

What is included in a newborn screening?

Screening varies by state ––  while there are national recommendations for newborn screening, each state determines what screenings are required for babies in that state.

Newborn screening usually includes tests for:

  • Metabolic conditions.Metabolism is the process that converts food into energy. Many metabolic conditions occur when enzymes (the proteins that aid metabolism by speeding up chemical reactions in cells) do not exist in the body or don’t work as they should. Some metabolic conditions often included in newborn screenings are:
  • Citrullinemia
  • Maple syrup urine disease (MSUD)
  • Medium chain acyl-CoA dehydrogenase (MCAD) deficiency
  • Methylmalonic acidemia
  • Phenylketonuria (PKU)
  • Tyrosinemia
  • Hormone conditions. The endocrine system’s glands produce hormones, chemicals that send messages that affect different processes of the body. Hormone conditions happen when the glands make too little or too much of hormones. Newborn screening usually tests for:
  • Congenital hypothyroidism
  • Congenital adrenal hyperplasia
  • Hemoglobin conditions (blood disorders, hemoglobinopathies). Hemoglobin is a protein found in red blood cells. Its job is to carry oxygen throughout the body. Hemoglobin conditions usually included in a newborn screening are:
  • Beta thalassemia
  • Hemoglobin SC disease
  • Sickle cell disease

Most states also screen for hearing loss and critical congenital heart disease. Other rare, serious medical conditions usually included in newborn screening are:

  • Biotinidase deficiency
  • Cystic fibrosis
  • Galactosemia
  • Mucopolysaccharidosis type 1
  • Pompe disease (glycogen storage disease type 2)
  • Severe combined immunodeficiency (SCID)
  • Spinal muscle atrophy (SMA)
  • X-linked adrenoleukodystrophy

Make sure you’re aware of your state’s specific screening requirements. Talk with your doctor if you’re concerned that your baby may need other newborn screening tests not offered through your state’s program.

Kentucky newborn screening requirements

Kentucky’s newborn screening law requires all newborns to receive screening tests before being discharged from the hospital. If a child is born outside of a hospital or health care facility, he or she must be tested 24 to 48 hours after birth. The tests include:

  • Pulse oximetry: This test measures the amount of oxygen in the blood by placing sensors on a baby’s hand and foot. The test takes minutes to perform. This is a screening for congenital heart disease.
  • Hearing screening: This test will check your baby’s hearing. If needed, follow-up testing can help you get more information about your baby’s hearing.
  • Tests of a small amount of blood taken from your baby’s heel: The blood is sent to the state lab. Results will be sent to you and to your baby’s pediatrician.

Norton Children’s neonatal intensive care units

Norton Children’s provides the comprehensive, highly skilled care that your newborn may need. With a proven team of accomplished neonatal specialists, our two Norton Children’s neonatal intensive care units (NICUs) are dedicated to caring for babies born prematurely or in need of advanced care or surgery.

Learn more

The commonwealth of Kentucky screens for the following conditions with the blood test:

  • Amino acid disorders
  • Biotinidase deficiency
  • Congenital adrenal hyperplasia (CAH)
  • Congenital hypothyroidism (CH)
  • Cystic fibrosis (CF)
  • Fatty acid disorders
  • Galactosemia
  • Hemoglobinopathies (blood disorders)
  • Krabbe disease
  • Organic acid disorders
  • Phenylketonuria (PKU)
  • Severe combined immunodeficiency (SCID)
  • Various lysosomal disorders (Such as Pompe disease, Mucopolysaccharidosis type I)

Should your baby have a positive result for a screening, it does not necessarily mean that he or she has the condition. Your baby’s pediatrician will speak with you about the results. It may simply mean the child is at risk or that more testing may be required to make a diagnosis. You may receive a letter asking you to take your baby for additional testing as well as genetic testing. Even if your baby tested negative for all conditions, your child’s pediatrician may want to repeat a test or perform other tests to confirm the results. Additionally, if you do not hear anything about the results of the newborn screen, that’s OK, “no news is good news.” The state only reports out abnormal tests.


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