Abstract:

Objective: To understand the occurrence of rare diseases in the neonatal intensive care unit (NICU) of the Affiliated Maternity Hospital of Nanjing Medical University (our hospital), and judge the change trend of rare diseases. Methods: The critically ill newborns who were treated in our NICU between January 2013 and December 2020 were selected. Rare diseases were diagnosed by the tandem mass spectrometry screening of blood and urine samples, and genetic testing. The disease detection rate, clinical characteristics, genetic changes and prognostic follow-up of confirmed children were summarized by descriptive research methods. Results: The total number of newborns was 183 820, the annual deliveries increased from 18 863 to 26 511 year by year, and NICU inpatients from 2 312 to 2 871. A total of 34 children with rare diseases were screened out, and the annual NICU-detection rate increased from 0.43‰ to 4.39‰, showing an upward trend. Rare diseases included four neuromuscular-skeletal diseases, 18 genetic metabolic diseases, two endocrine diseases, six chromosome deletions or abnormalities, one immune system diseases and three others, with the highest proportion of genetic metabolic disorders (about 53%), followed by neuromuscular-skeletal diseases (about 11%). A total of 15 cases were diagnosed by conventional tandem mass spectrometry screening, and the remaining 19 were all confirmed by the exon sequencing technology. These rare diseases have their specific clinical manifestations. Of the 34 children with rare diseases, 8 children died, 18 children had basically normal growth and development, 7 children had backward growth and intellectual development, and one case was lost. Conclusions: In recent years, the detection rate of rare diseases in our hospital has increased year by year, mainly autosomal genetic metabolism. The proportion of mortality and late development is high. Strengthening the clinical understanding of rare diseases, expanding the scope of genetic and metabolic diseases screening, and strengthening prenatal counseling and genetic counseling are the key points of achieving prenatal and postnatal care and putting an reducing the harm of rare diseases.

Key words: Rare diseases, Infant, newborn, diseases, Genetic diseases, inborn, Metabolism, inborn errors, Intensive care units, neonatal