Uncertainty of Prenatally Diagnosed Congenital Heart Disease: A Qualitative Study

Kelly W Harris 1 2Kathleen M Brelsford 2Ann Kavanaugh-McHugh 3Ellen Wright Clayton 1 2 4

JAMA Network Open. 2020 May 1;3(5):e204082.   doi:0.1001/jamanetworkopen.2020.4082.

PMID: 32369178

PMCID: PMC7201310

DOI: 10.1001/jamanetworkopen.2020.4082

Free PMC article


Take-Home Points:


  • The most significant contributor of stress to parents with the prenatal diagnosis of severe congenital heart disease is uncertainty – especially as it relates to the long term unknown variables of the cardiac diagnosis.
  • The strategies adopted by referring physicians and fetal cardiologists before, during, and after appointments reduced or compounded stress surrounding uncertainty.
  • Potential interventions to reduce parental anxiety may include expectation-setting before referral clinic appointment, communication in clinic both verbal and nonverbal  and identity formation after the new diagnosis.
  • Parallels can be drawn and counseling practices from other specialties – such as pediatric palliative care adopted in managing parental stress.



Commentary from Dr. Venugopal Amula (Salt Lake City UT), section editor of Pediatric Cardiology Journal Watch:  Parents with a prenatal diagnosis of severe congenital heart disease experience stress and anxiety. Mitigation strategies should take into account the longitudinal emotional experience of the parents in the prenatal period. Prenatal diagnosis is known to improve neonatal outcomes with congenital heart disease by informing postdelivery care and decreasing hypoxia,  metabolic acidosis, and end-organ damage. Little is known about the impact of prenatal diagnosis on the psychological health of parents. Harris et al. perform a qualitative analysis of parents’ prenatal experience in their account using a thematic analysis approach of professionally transcribed audio-recorded telephone interviews. The coding of the transcripts was performed and revised iteratively by one author while evaluating intercoder reliability using a second author. The structured interview was performed on parents referred to and seen at the Fetal Cardiology Clinic at Vanderbilt Children’s Hospital from May 2019 to August 2019. Twenty-seven individuals from 17 families participated in 42 phone interviews during pregnancy, 27 after the first appointment, and 15 after follow up pediatric cardiology appointments. The authors identified “Uncertainty” as a pervasive central theme and were related both to concrete questions on scheduling, logistics, or next steps, and long-term unknown variables concerning the definitiveness of the diagnosis or overall prognosis.  A portion of the uncertainty is solvable, especially concerning the process of care, but the portion that relates to details of anatomic diagnosis, the success of future interventions, etc. are unavoidable.


Although the report is limited by small sample size and may not represent a broad parental group with differing demographic, clinical, and cultural characteristics, it provides preliminary insight into the contributors to stress and potential interventions needed.