Experience with Parent Follow-Up for Communication Outcomes after Newborn Screening Identifies Carrier Status

Michael H. Farrell, Alison La Pean Kirschner, Audrey Tluczek, Philip M. Farrell

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


Objective: To conduct interviews with a multiyear sample of parents of infants found to have heterozygous status for sickle cell hemoglobinopathy or cystic fibrosis during newborn blood screening (NBS). Study design: Interviewers with clinical backgrounds telephoned parents, and followed a structured script that blended follow-up and research purposes. Recruiting followed several steps to minimize recruiting bias as much as possible for a NBS study. Results: Follow-up calls were conducted with parents of 426 infant carriers of sickle cell hemoglobinopathy, and 288 parents of cystic fibrosis carriers (34.8% and 49.6% of those eligible). Among these, 27.5% and 7.8% had no recollection of being informed of NBS results. Of those who recalled a provider explanation, 8.6% and 13.0% appraised the explanation negatively. Overall, 7.4% and 13.2% were dissatisfied with the experience of learning about the NSB result. Mean anxiety levels were low but higher in the sickle cell hemoglobinopathy group (P < .001). Misconceptions that the infant might get the disease were present in 27.5% and 7.8% of parents (despite zero actual risk for disease). Several of these data were significantly predicted by NBS result, health literacy, parental age, and race/ethnicity factors. Conclusions: Patient-centered public health follow-up can be effective after NBS identifies carrier status. Psychosocial complications were uncommon, but harms were substantial enough to justify mitigation.

Original languageEnglish (US)
Pages (from-to)37-43.e2
JournalJournal of Pediatrics
StatePublished - Sep 2020
Externally publishedYes

Bibliographical note

Funding Information:
Supported by the National Institutes of Health ( R01 HL086691 and HL086691-02S1 ). The authors declare no conflicts of interest.

Publisher Copyright:
© 2020 Elsevier Inc.


  • communication
  • cystic fibrosis
  • genetic screening
  • incidental findings
  • newborn screening
  • sickle cell hemoglobinopathy


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