ABSTRACT
OBJECTIVES: To investigate parental expectations of a prenatal consultation with a neonatologist for a prenatally diagnosed congenital anomaly, to identify parents' values and unmet needs, and to obtain recommendations for improving physician-parent communication in a prenatal consultation. METHODS: Parents referred to neonatology for prenatal consultation after the diagnosis of a congenital anomaly. Completed 2 qualitative interviews: the first within 1 week of the consultation and the second 1 week after delivery. Interviews were analyzed for themes by using the constant comparative method associated with the grounded theory method. RESULTS: Thematic saturation was achieved after 42 interviews (22 women); only mothers participated. Five main themes emerged: (1) preparation; (2) knowledgeable physician; (3) caring providers; (4) allowing hope; and (5) time. Mothers believed that a consultation with a neonatologist helped them prepare for the perinatal course. They wished to know the management plan and all possible outcomes. Mothers wanted information specific to their situation and tailored to their knowledge base. Receiving conflicting information from physicians increased anxiety and eroded confidence. Seeing the NICU during the consultation was emotionally difficult but valuable. Mothers wanted realistic information, regardless of how grim, yet wanted to retain hope. All mothers would recommend a prenatal consultation with a neonatologist. CONCLUSIONS: Mothers perceived that a consultation with a neonatologist, which included a NICU tour, prepared them for the perinatal course. Parents want realistic medical information, specific to their situation, provided in an empathetic manner and want to be allowed to hope for the best possible outcome.
Subject(s)
Congenital Abnormalities/diagnosis , Neonatology , Prenatal Diagnosis , Professional-Family Relations , Referral and Consultation/organization & administration , Adolescent , Adult , Congenital Abnormalities/psychology , Congenital Abnormalities/therapy , Decision Making , Female , Genetic Counseling , Health Knowledge, Attitudes, Practice , Humans , Intensive Care Units, Neonatal , Interviews as Topic , Mother-Child Relations , Physician-Patient Relations , Pregnancy , Quality of Health Care , Truth Disclosure , Young AdultABSTRACT
Intracranial hemorrhage in a term neonate is a rare event in the absence of an identifiable precipitating factor such as severe thrombocytopenia, mechanical trauma, asphyxia, infections, or congenital vascular malformations. Congenital disorders of glycosylation are a genetically and clinically heterogeneous group of multisystem disorders characterized by the abnormal glycosylation of a number of glycoproteins. Although bleeding caused by abnormal glycosylation of various coagulation factors is a well-known clinical complication of several types of congenital disorders of glycosylation, intracranial hemorrhage has not been reported as an initial manifestation of this entity. Here we report the detailed history of a family with 2 consecutive male infants, both born at term with intracranial hemorrhage diagnosed within the first 24 hours of life. The diagnosis of a congenital disorder of glycosylation was established in the second infant by an abnormal glycosylation of serum transferrin detected by electrospray-ionization mass spectrometry. Both infants showed significant neurologic deterioration during the first month of life, and both died at 5 months of age. Intracranial hemorrhage in a term neonate without a potential precipitating factor represents yet another clinical feature that should raise the suspicion for a congenital disorder of glycosylation.
