A Primer on Newborn Screening

Kristin Gatrell Bryant, RN, BSN, MSN; Kimberly M. Horns, RNC, NNP, PhD; Nicola Longo, MD, PhD; Julieanne Schiefelbein, MappSc, RNC, MA (Ed), RM, PNP, NNP


Adv Neonatal Care. 2004;4(5) 

In This Article

Implications for Parent Education and Support

Both the Newborn Screening Task Force and the AAP recommend that parents be informed before the newborn screen is performed, preferably in the immediate postpartum period.[8,15] Every unit should have a policy outlining the minimum standards for education. Materials such as brochures and handouts are useful to ensure consistent information is provided (see Family Teaching Toolbox on page 318-319 in this issue). Develop educational materials with input from families and review their literacy levels for readability.[8] Be prepared for questions about, and requests for, expanded newborn screening.

Although almost every state permits parental refusal, only 3 states require parental consent.[15,21,29] Parents have the right to refuse routine newborn screening based on religious or personal reasons, and providers must be prepared to counsel families who refuse testing. Parents need to understand that if IBEM are detected early and treatment is initiated, their infant may be protected from a devastating outcome. If parents still refuse testing, ensure appropriate referrals are made and document carefully.[8]

When a work-up for suspected IBEM is initiated, families need to understand that it may take weeks to months to receive complete testing results. If a specific disease is diagnosed they will need to have intensive counseling from genetic and metabolic specialists; further family testing may be required.[8]

Because many IBEM are detected early, parents may not fully appreciate the seriousness of the disease; the risks are latent and may not seem real to the parents. Emphasize that in order to keep their infant healthy, he or she may need continuous administration of medications, special formulas, and/or nutritional support, and laboratory monitoring, even in the absence of symptoms.[7,19] Ensure continuous access to care, follow-up, and support, and that the family has the resources to obtain needed medications and therapies. Provide anticipatory guidance to families by teaching them to recognize symptoms of the underlying disease and how to avoid risks for exacerbating the condition.[8]

Holistic care includes assessment of family functioning.[33] Identify personal, social, economic, religious, ethnic, or cultural issues that impact health behaviors or beliefs and observe family interactions and responses.[33] Assess for possible ethical concerns, such as confidentiality, non-paternity, insurability, and the potential for discrimination.[33] Assist parents in dealing with a rare disorder or chronic illness, the sense of guilt, and the loss of the "perfect" child.[9] Encourage parental advocacy by linking them with other parents, resources, support groups, and organizations ( Table 4 ).[33]


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