Objective To reveal the genetic causes of newborns with feeding difficulties,and to explore the clinical value of whole-exome sequencing in the diagnosis and treatment of this population.Methods From December 1,2020 to April 30,2023,children with feeding difficulties and at least one basic disease(such as gastrointestinal,lung,nerve,congenital structural abnormalities,congenital functional abnormalities,etc.)and clinical data were collected from Ningbo Women and Children's Hospital,and the whole-exome sequencing was improved,and multi-dimensional data analysis and literature re-view were conducted.Results Totally 9 children were included,6 of whom were positive in the genetic testing,including 2 cases of myotonic dystrophy type 1,1 case of neurodevelopmental disorder with neonatal respiratory insufficiency hypotonia feeding difficulties,1 case of pseudohypoparathyroidism,1 case of orofacial digital/digital syndrome type 1,and 1 case of spinal muscular atrophy type 2.According to the type of disease,the children with positive genetic testing were treated with drugs and rehabilitation interventions.Two children with negative genetic testing were treated with symptomatic treatment and the follow-up results were good.One patient died of severe asphyxia after giving up treatment.Conclusion The whole-exome sequencing of newborns with feeding difficulties and basic diseases is of great significance for clinical diagnosis and treatment decision-making,and has the value of routine screening.
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