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Newborn screenings help identify potential concerns; Children’s Minnesota experts help families address them

By Marcelo Vargas, MD, clinical biochemical geneticist

Babies born in Minnesota benefit from having one of the most comprehensive newborn screening programs in the country. These tests check babies for serious, rare disorders that may not be visible at birth. The three tests are blood spot, hearing, and pulse oximetry screening.

  • Blood spot screening checks for about 60 rare but treatable disorders. Early detection can help prevent serious health problems, disability, and even death. Three conditions were added for screening in January 2017.
  • Hearing screening checks for hearing loss. Identifying hearing loss early helps babies stay on track with speech, language, and communication skills.
  • Pulse oximetry screening checks for a set of serious heart defects known as critical congenital heart disease (CCHD). If detected early, babies with CCHD can often be treated with surgery or other medical interventions.

Results of the hearing and pulse oximetry screen will be available on the same day of screening and will be discussed with families at that time. The blood spot screening process takes a few days. The Minnesota Department of Health (MDH) shares these results with the baby’s primary care provider. The newborn screen reports may include a potential diagnosis, recommend additional testing, and information about the needed referral to  a specialist.

At Children’s Minnesota we recognize that the initial evaluation after a child is found to have a positive newborn screen may be a stressful time for the whole family. There may be a need for further evaluations to confirm a diagnosis and recommendations for treatment.  Children’s Minnesota has specialists to help if any of these screens are abnormal. We partner with the Children’s Heart Clinic for cardiology outpatient care and we have  a comprehensive ENT and Audiology program for children with hearing concerns. Some blood spot test results may require referrals to specific specialists in these programs: cancer and blood disorders, endocrinology, cardiology, immunology, and pulmonology (cystic fibrosis). Our teams work in collaboration to make sure all parental questions are addressed and interventions are timely.

The majority of babies in the state with abnormal blood spot results are seen at the Metabolic and Newborn Screening Follow-up Program at Children’s Minnesota. The program offers initial confirmatory evaluations and follow-up care for children whose blood spot screens are abnormal or have a presumed or confirmed inborn error of metabolism.  Our team of experts includes biochemical geneticists who specialize in metabolic disorders, genetic counselors, a nurse and a metabolic nutritionist.

Our team focuses on providing detailed genetic counseling to the families from the initial visit and support throughout the evaluation process. If a child is referred to our metabolic clinic for follow-up by their primary care provider, we will contact the family directly to coordinate any clinic visits, relevant laboratory testing, and treatment if applicable.  Depending on the condition reported by the newborn screen, our team will work with the child’s primary care provider to determine appointment urgency and timing. If a condition is ruled out, the initial newborn screen result will be considered a false positive result and no further interventions or follow-up may be necessary.

Resources for families

For more information on the blood spot screens contact the Minnesota Department of Health. For specific questions about your child’s results talk with their primary care provider. If referral to a specialist is needed, Children’s Minnesota resources include:

Blood spot screening:  Metabolic and Newborn Screening Follow-up Clinic at 612-813-7240

Some test results may require referrals to specific specialists:

Hearing screening:  Audiology and ENT at 612-813-7610

Pulse Oximetry: Children’s Heart Clinic at 612-813-8800

Resource for health professionals

Primary care and other providers with questions or wanting to refer patients with positive newborn screens may contact Children’s Physician Access to speak to a biochemical geneticist, otolaryngologist or cardiologist and to schedule an appointment at 866-755-2121.

Marcelo P. Vargas, MD
Marcelo P. Vargas, MD
Kristin Tesmer