Alobar holoprosencephaly: Exploring mothers' perspectives on prenatal decision‐making and prognostication

Objectives Parents receiving a prenatal diagnosis of alobar holoprosencephaly (HPE) often experience uncertainty regarding the pregnancy prognosis. There is little known about how best to counsel and support families receiving the diagnosis. This study explored parental experiences and wishes after receiving a prenatal diagnosis of alobar HPE. Methods This was a retrospective qualitative study. Semi‐structured interviews were conducted to determine factors impacting parents' decision‐making process, experiences with healthcare providers, and expectations for their child's length and quality of life. Interviews were analyzed using qualitative content analysis. Results Eight mothers who received a prenatal diagnosis of alobar HPE between 2013 and 2019 participated in the study. Parental expectations were based on information conveyed during prenatal counseling. Religious and personal beliefs, perceived suffering, and provider prognostication contributed to parent decisions and goals of care. Participants reported pressure to terminate the pregnancy. Parents were not prepared for the possibility of survival beyond the perinatal period. Most parents reported no regret in their choices. Conclusion Patients receiving a prenatal diagnosis of alobar HPE desire access to balanced prenatal counseling about prognosis, morbidity, and mortality. Providers should explore values and beliefs that contribute to parents' goals of care and offer appropriate information and referrals. Key points What's already known about this topic? Prior studies of all types of holoprosencephaly (HPE) have shown that families are unprepared for the infant to survive delivery, and frequently have traumatic experiences during prenatal counseling. These studies were mainly done 10–20 years ago. What does this study add? Parents who receive a prenatal diagnosis of alobar HPE desire comprehensive holistic prenatal counseling about perinatal prognosis and support in navigating goals of care. They want providers to be realistic but also acknowledge uncertainties, and if unfamiliar with the condition refer to providers who are knowledgeable. Our study shows that in the past 20 years families do not feel the quality of fetal counseling for this condition has improved.