Newborn screening helps uncover serious and treatable disorders that aren’t clinically apparent

Newborn screening has expanded in Kentucky in recent years, providing faster identification of kids who may have disorders with no outward symptoms.

When a newborn metabolic screen shows the possibility of an inherited genetic disorder in an infant in the western half of Kentucky, counselors at Norton Children’s Genetics Center, affiliated with the UofL School of Medicine, explain to families the results and what to expect next.

Counselors at the University of Kentucky handle the eastern half of the state under the state’s coordination of newborn screening.

“As we aim to reduce the chances of false negatives, the result is higher false positives,” said Kelly Jackson, M.S., CGC, manager of genetic services at Norton Children’s Genetics Center and an assistant professor of pediatrics at the UofL School of Medicine. “It’s important for providers to know that any positive screen result requires confirmatory testing. In the instance of inherited metabolic conditions, Norton Children’s Genetics Center counselors will coordinate the confirmatory testing and referrals to appropriate subspecialists.”

Genetics counselors work with Norton Children’s Neuroscience Institute, affiliated with the UofL School of Medicine, for spinal muscular atrophy cases. They also work with Norton Children’s Neuroscience Institute and Norton Children’s Endocrinology, affiliated with the UofL School of Medicine, for X-linked adrenoleukodystrophy cases.

RELATED: Duchenne muscular dystrophy treatments and advances

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The newborn metabolic screening process

  • Samples are taken shortly after birth. Parents can opt out, but often are not even aware that their child is having a newborn screening test.
  • The state lab determines if a screen is abnormal.
  • Findings/limits are set to reduce false negatives, increasing the likelihood of false positives. (Physicians who suspect an inherited metabolic disorder are encouraged to test for the particular condition even if the newborn screen shows a negative result.)
  • Once the state identifies an abnormal newborn screen from the western half of the state, Norton Children’s Genetics Center is notified.
  • Norton Children’s Genetics Center notifies the family’s primary care provider to discuss the result with the family and alert them that genetic counselors will be in touch.
  • Norton Children’s Genetics Center notifies the appropriate subspecialist physicians.
  • Norton Children’s Genetics Center counselors speak with the family to discuss the results and what will happen next.
  • Orders are issued for diagnostic testing to determine whether there’s a true positive test.
  • For some disorders, treatment may begin as soon as labs are drawn for the diagnostic test. For others, treatment begins only once a positive screen is confirmed.
  • Patients with positive newborn screenings receive further diagnostic testing. If diagnostic results are positive, treatment is coordinated. For some conditions, such as urea cycle disorders, the infant is admitted to Norton Children’s Hospital for testing and to start treatment right away.

Newborn metabolic screening tests and results typically are completed by about 7 days of age in Kentucky, but often are completed in three to four days. Metabolic conditions such as amino acid, urea cycle, organic acid and fatty acid oxidation disorders may present clinically before diagnostic tests are complete.

The state newborn screening lab needs accurate information from the time of screening,


  • Age (in hours)
  • Weight (in grams)
  • Gestational age (in weeks)
  • Gender
  • Red blood cell transfusions given and when
  • Whether on total parenteral nutrition or feeding (breast or formula)
  • Any antibiotics administered
  • Primary care provider contact, family address and telephone number

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