Table 1 Indications for the neonatologist and the pediatrician to make easier the communication of a genetic disease and/or malformation syndrome diagnosis, and to implement the best practices in the relationship with families [36, 37]
When | • The first interview with the parents/family members should be carried out at the time of the clinical diagnosis (postponing the communication until the karyotype is available, for example in the case of Down syndrome, is considered unprofessional and intolerable by the family). • In cases of long-lasting diagnostic pathways (for example diagnosis of genetic and/or genomic diseases made by array-CGH/NGS techniques), it is necessary to share with parents the different moments and results obtained during the diagnostic process • In cases where the diagnosis is not defined, it is however possible to make a functional diagnosis, to which refer to for care program and follow-up planning. |
Who | • Clinical geneticist and/or neonatologist or other specialist who has direct knowledge of the newborn, with competence on the disease object of the diagnosis and, if possible, the responsibility of care, owing to their expertise regarding the syndrome as well as in explaining methods and timing of diagnostic tests. • Genetic diseases are frequently burdened by the presence of malformations affecting multiple organs and systems and require multi-specialty/multi-professional management. Therefore, other specialists (e.g. pediatric surgeon) and health professionals (e.g. physiotherapist) should be present or available. • For those born to foreign parents the presence of the cultural mediator is useful. |
With whom | • The first meeting to communicate the diagnosis should be carried out with both parents (avoiding the presence of other figures not directly involved in care). • If the mother is not in good clinical conditions, the first communication may be made with the father (with whom times and methods to inform the mother should be agreed). • The interview must be carried out in front of the newborn. His presence allows parents to be guided towards his physiological characteristics, skills, and potential. • In subsequent meetings, the involvement of family pediatrician, other specialists/health professionals, other family members/trusted persons, representative of the reference Association (if available) may be agreed. A multidisciplinary management (gynecologist, obstetrician, neonatologist, surgeon, psychologist ...), may guarantee to families a global, integrated and continuous care, and reduce the risk of disorientation or sense of abandonment. |
Where | A private environment must be identified: • free from possible interruptions (by telephone, other colleagues, etc. ...); • available exclusively to parents at the end of the interview. |
How | • In a proactive way, with empathy and respect. • Balance honesty and frankness (it is better a sincere “I don’t know” than incorrect or inaccurate indications, with negative repercussions on the whole life of the child and the family) with the need of parents to maintain hope for the survival of their baby. • Speak simply and clearly, using common language and minimizing jargon. • Avoid the attitude of over-describing the clinical aspects. • Refer to the child by name. • Ensure continuous and direct eye contact. • Arrange distances in the range of 50–100 cm, i.e. between “personal” and “social”, placing the chairs side by side and not in front (the interposition of the desk may be perceived as an obstacle to communication). • Accept the experience of family members and their vision of things, without directly contesting them. • Provide practical and emotional support to the process of remodeling parents’ role. • Suspend critical judgment, interpretations and “thought readings” during the interview. • Provide first the positive aspects of a news, and then introduce the negative ones. • Use the first plural person (we) instead of the first or second singular one. • Avoid impersonal expressions, and directly refer to the experience of parents. • Assess parents’ knowledge, their cultural background, and ethical visions, as well as the ability to understand what is explained to them. • Facilitate questions and requests from parents with opening speeches. |
How long | • First meeting without time limits, however avoiding overflowing interviews that lose effectiveness and increase the risk of misunderstandings. • Provide more meetings, as needed, with different methods and professionals. • In any case, dedicate all the time you need to communication. The “psychic time” of parents, necessary for accepting a child unlike from what they imagined until that moment, is often different than that of the medical intervention. Recognizing this time and being generous with one’s own have, then, a therapeutic as well as an ethical value. |
What | • Provide updated information on the main characteristics of the newborn’s disease, reporting only the most frequent complications, without listing the rarest or most unlikely ones (which indicate theoretical knowledge, but which do not give any benefit to the family). • Explain genetic and/or genomic diagnostic procedures, documenting the clinical indications. • Perform a physical examination of the newborn together with the parents, underlining his physiological features. • Formulate an individualized and realistic prognosis (not theoretical and applicable in a generic way to other patients with the same disease), and perform a reproductive counseling. • Describe the care program and provide information on follow-up, reference center and local services. |
With which supports/helps | • Informatic and/or written material (brochures, information booklets also relating to the presentation of the reference Association), guided web navigation in order to avoid that misleading information can disrupt the correct care or adaptation process. • Parents/families’ associations, institutions. |