1 - Serviço de Genética Médica.
2 - Unidade de Cuidados Intensivos Neonatais no Hospital Dona Estefânia, Área de Pediatria Médica, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal
- 50º Congresso Português de Neonatologia, reunião nacional, reunião internacional, sob a forma de poster
- Prémio de Melhor Poster do 50º Congresso Português de Neonatologia
Introduction/Aim: Congenital malformations and genetic disorders are a leading cause of infant morbidity and mortality in the developed world, particularly in critically ill infants. We investigate the impact of genetic disease in a reference neonatal intensive care unit (NICU) by identifying and describing genetic diagnosis, testing methodologies, timing of diagnosis, and clinical utility.
Methods: Chart review of NICU patients referred for inpatient Genetics evaluation from 2019 to 2021.
Results: Fifty patients were referred for Genetics evaluation. The main clinical indication for referral was multiple congenital anomalies (19/50, 38%), followed by neurological disease (12/50, 24%), isolated congenital anomaly (7/50, 14%), single system condition (7/50, 14%), and multisystem disease (5/50, 10%). Eighteen patients (36%) received a genetic diagnosis using a variety of methodologies. In 42% of cases (21/50), genetic evaluation is still ongoing and 22% (11/50) were clinical discharged without a genetic diagnosis. Cytogenetic techniques were the first-tier test in 42% of cases (21/50) with a diagnostic yield of 10% (2/21). Whole exome sequencing (WES) was applied in 52% (26/50), of which 73% (19/26) as a first-tier test, and 27% (7/26) as follow-up investigation. Globally, WES had a diagnostic yield of 46% (12/26). Other methodologies included: Sanger sequencing (6/50, 12%), MS-MLPA (1/50, 2%), 7-dehydrocholesterol (1/50, 2%) and PCR (1/50, 2%). The age at molecular diagnosis ranged between 36 days and 34 months. A significant majority of diagnosis was achieved after inpatient discharge (13/18, 72%). In 5/18 infants (28%) the genetic diagnosis impacted on the clinical decision-making during hospitalization. All cases received genetic counselling.
Conclusion: Genetic medicine has high diagnostic and clinical utility in critically ill patients, as it allows for appropriate management, early decision-making, establishing patient prognosis and appropriate genetic counselling. This study provides important data for further improvements on the genetic diagnostic odyssey of critically ill patients.
Palavras Chave: diagnóstico genético; neonatologia; diagnóstico; terapêutica