Newborn Screenings

Course Objectives
  1. Apply safe preparation and heel stick collection principles
  2. Recognize specimen defects and identify the appropriate next step
  3. Explain screening and follow-up without diagnosing a condition
Course Content
Course Creator: Kirsten Hermens, NCMA-P
Total CE Hours: 1 Credit Hour 
Pace Course #: 586-2904-26

Key Terms:
  • Screening
  • Dried blood spot
  • Unsatisfactory specimen
  • Out of range
  • Confirmatory testing
  • CCHD

Outline:
I. Introduction and key terms
  • Purpose of newborn screening and why healthy appearance is not enough
  • Blood spot, hearing, and pulse oximetry screening
  • Collection timing and repeat screening requirements
II. Preparation and safe heel stick collection
  • Infant identification, collection plan, and screening card information
  • Approved supplies, expiration dates, positioning, and comfort measures
  • Safe medial or lateral plantar heel sites and infant-specific devices
  • Warming, cleansing, drying, puncture, and suitable blood drop formation
III. Specimen quality and handling
  • One-sided application, full saturation, and avoiding layered blood
  • Infant aftercare, complete drying, prompt transport, and handoff
  • Recognizing defects and following correction or recollection procedures
  • Scenario and review
IV. Hearing and CCHD screening
  • Automated auditory brainstem response and otoacoustic emissions
  • Hearing screening, diagnosis, and intervention benchmarks
  • Pulse oximetry sites, timing, current algorithm, and clinical escalation
V. Parent communication and ethical practice
  • Consent, refusal, and current state and facility requirements
  • Privacy, residual blood spot policies, and parent questions
  • Interpreters, access barriers, and equitable follow-up
  • Scenario and review
VI. Selected screened conditions
  • PKU and maple syrup urine disease
  • Classic galactosemia and MCAD deficiency
  • Congenital hypothyroidism and congenital adrenal hyperplasia
  • Sickle cell disease and cystic fibrosis
  • Homocystinuria and biotinidase deficiency
  • Prematurity, transfusion, parenteral nutrition, and repeat screening
VII. Results and follow-up
  • In-range, out-of-range, and unsatisfactory findings
  • Responsible provider, verified contact information, and a clear action plan
  • Scenario and review
VIII. Conclusion
 
References:
  1. Health Resources and Services Administration. (2024, December). Newborn screening process. https://newbornscreening.hrsa.gov/newborn-screening-process 
  2. Oregon Health Authority. (2026, January). Oregon newborn bloodspot screening practitioner’s manual.
     https://www.oregon.gov/oha/PH/LABORATORYSERVICES/NEWBORNSCREENING/Documents/Practitioner%20Manual.pdf
  3. Health Resources and Services Administration. (2024, December). Newborn screening results and follow-up. https://newbornscreening.hrsa.gov/newborn-screening-process/newborn-screening-results-and-follow 
  4. Centers for Disease Control and Prevention. (2025, December 15). Clinical screening and diagnosis for critical congenital heart defects. https://www.cdc.gov/heart-defects/hcp/screening/index.html 
  5. Health Resources and Services Administration. (2026, March). Classic phenylketonuria. https://newbornscreening.hrsa.gov/conditions/classic-phenylketonuria 
  6. Health Resources and Services Administration. (2026, March). Maple syrup urine disease. https://newbornscreening.hrsa.gov/conditions/maple-syrup-urine-disease 
  7. Health Resources and Services Administration. (2026, July). Classic galactosemia. https://newbornscreening.hrsa.gov/conditions/classic-galactosemia 
  8. Health Resources and Services Administration. (2026, March). Medium-chain acyl-CoA dehydrogenase deficiency. https://newbornscreening.hrsa.gov/conditions/medium-chain-acyl-coa-dehydrogenase-deficiency 
  9. Health Resources and Services Administration. (2026, March). Congenital hypothyroidism. https://newbornscreening.hrsa.gov/conditions/congenital-hypothyroidism 
  10. Health Resources and Services Administration. (2026, March). Congenital adrenal hyperplasia. https://newbornscreening.hrsa.gov/conditions/congenital-adrenal-hyperplasia 
  11. Health Resources and Services Administration. (2026, July). S,S disease (sickle cell anemia). https://newbornscreening.hrsa.gov/conditions/ss-disease-sickle-cell-anemia 
  12. Health Resources and Services Administration. (2026, March). Cystic fibrosis. https://newbornscreening.hrsa.gov/conditions/cystic-fibrosis 
  13. Health Resources and Services Administration. (2026, March). Homocystinuria. https://newbornscreening.hrsa.gov/conditions/homocystinuria 
  14. New York State Department of Health, Wadsworth Center. (2026, March). Collection of newborn screening specimens. https://www.wadsworth.org/sites/default/files/2026-03/Specimen%20Collection%20Guide%20%28Updated%20March%202026%29.pdf 
  15. Centers for Disease Control and Prevention. (2025, May 8). Research summary: Newborn hearing screening can improve reading skills. https://www.cdc.gov/hearing-loss-children/articles/newborn-hearing-screening.html 
  16. Baily, M. A. (2023). Newborn screening. The Hastings Center for Bioethics. https://www.thehastingscenter.org/briefingbook/newborn-screening/
  17. Health Resources and Services Administration. (2024, December). Research and quality improvement. https://newbornscreening.hrsa.gov/about-newborn-screening/research-quality-improvement 
  18. Health Resources and Services Administration. (2024, December). Recommended uniform screening panel. https://newbornscreening.hrsa.gov/about-newborn-screening/recommended-uniform-screening-panel 
  19. Health Resources and Services Administration. (2024, December). Newborn screening results and follow-up. https://newbornscreening.hrsa.gov/newborn-screening-process/newborn-screening-results-and-follow