Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents’ associations

Abstract

Background Genetic diseases are chronic conditions with relevant impact on the lives of patients and their families. In USA and Europe it is estimated a prevalence of 60 million affected subjects, 75% of whom are in developmental age. A significant number of newborns are admitted in the Neonatal Intensive Care Units (NICU) for reasons different from prematurity, although the prevalence of those with genetic diseases is unknown. It is, then, common for the neonatologist to start a diagnostic process on suspicion of a genetic disease or malformation syndrome, or to make and communicate these diagnoses. Many surveys showed that the degree of parental satisfaction with the methods of communication of diagnosis is low. Poor communication may have short and long-term negative effects on health and psychological and social development of the child and his family. We draw up recommendations on this issue, shared by 6 Italian Scientific Societies and 4 Parents’ Associations, aimed at making the neonatologist’s task easier at the difficult time of communication to parents of a genetic disease/malformation syndrome diagnosis for their child. Methods We used the method of the consensus paper. A multidisciplinary panel of experts was first established, based on the clinical and scientific sharing of the thematic area of present recommendations. They were suggested by the Boards of the six Scientific Societies that joined the initiative: Italian Societies of Pediatrics, Neonatology, Human Genetics, Perinatal Medicine, Obstetric and Gynecological Ultrasound and Biophysical Methodologies, and Pediatric Genetic Diseases and Congenital Disabilities. To obtain a deeper and global vision of the communication process, and to reach a better clinical management of patients and their families, representatives of four Parents’ Associations were also recruited: Italian Association of Down People, Cornelia de Lange National Volunteer Association, Italian Federation of Rare Diseases, and Williams Syndrome People Association. They worked from September 2019 to November 2020 to achieve a consensus on the recommendations for the communication of a new diagnosis of genetic disease. Results The consensus of experts drafted a final document defining the recommendations, for the neonatologist and/or the pediatrician working in a fist level birthing center, on the first communication of genetic disease or malformation syndrome diagnosis. Although there is no universal communication technique to make the informative process effective, we tried to identify a few relevant strategic principles that the neonatologist/pediatrician may use in the relationship with the family. We also summarized basic principles and significant aspects relating to the modalities of interaction with families in a table, in order to create an easy tool for the neonatologist to be applied in the daily care practice. We finally obtained an intersociety document, now published on the websites of the Scientific Societies involved. Conclusions The neonatologist/pediatrician is often the first to observe complex syndromic pictures, not always identified before birth, although today more frequently prenatally diagnosed. It is necessary for him to know the aspects of genetic diseases related to communication and bioethics, as well as the biological and clinical ones, which together outline the cornerstones of the multidisciplinary care of these patients. This consensus provide practical recommendations on how to make the first communication of a genetic disease /malformation syndrome diagnosis. The proposed goal is to make easier the informative process, and to implement the best practices in the relationship with the family. A better doctor-patient/family interaction may improve health outcomes of the child and his family, as well as reduce legal disputes with parents and the phenomenon of defensive medicine.

Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene

“…Extensive diagnostic work-up, as well as early, continuous, long-term and multidisciplinary follow-up [ 23 ] (oncologic for increased risk of acute lymphoblastic leukemia, non-Hodgkin lymphoma, Langerhans cell histiocytosis, and hepatoblastoma [ 24 , 25 ]; cardiologic; neurodevelopmental; dermatological, also for vascular malformations and angiomas; ophthalmological/audiological, and surgical/gastroenterological for risk of HPS, umbilical hernia, anal atresia and other malformations) and integrated care, are necessary for these patients. Their complex clinical phenotype may be worsened by additional, and even early, life-threatening conditions like HPS, as occurred in the present patient [ 26 , 27 ]. Clinicians must consider and promptly treat the possible medical and surgical complications, with the aim of reducing the adverse outcomes according to an individualized approach.…”

Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles

“…Specifically, some suggestive clinical signs (syndactyly of hands and/or feet, ocular proptosis, ankylosis/synostosis of limb bones and cervical vertebrae), and the type of craniosynostosis (acrocephaly for early fusion of coronal and sagittal sutures, rather than brachicephaly) may help in the differential diagnosis, since they are more frequently observed in the main syndromic craniosynostoses, like Apert, Crouzon, and Pfeiffer syndromes. Neonatologists and pediatricians should take into consideration interstitial deletions of chromosome 1 in cases of developmental and growth delay associated to craniosynostosis, peculiar facial dysmorphisms, cleft palate and hand/foot abnormalities [ 27 ]. The present report provides new data about 1p31 microdeletion syndrome, in view of a better characterization of its genomic and phenotypic profile.…”

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis

“…Our study expands the current knowledge on CI, widening the genomic database and providing a better characterization of these conditions. Target NGS may aid clinicians during the diagnostic process (e.g., avoiding invasive methods like skin biopsy), and also later adapting the clinical management to the specific case [ 26 – 29 ]. Indeed, it may address towards the most appropriate approach, preventing clinical obstinacy in conditions burdened by serious complications or at high risk of death (as in our Patient 1).…”