Objective To explore the significance of whole genome sequencing(WGS) technology in the screening of genetic diseases in infants under 3 months old, in order to provide a new direction for precise diagnosis of genetic diseases. Methods Infants with clinically undiagnosed suspected genetic diseases who underwent WGS analysis in the neonatal ward of Baoding Hospital of Beijing Children′s Hospital Affiliated to Capital Medical University from April 2019 to April 2024, were selected as study subjects. Clinical data were collected to assess the significance of WGS technology in genetic diseases. Results A total of 82 infants were included, and genetic abnormalities were detected in 38 cases, with a detection rate of 46.34%(38/82). Among them, there were 3 cases of Gilbert syndrome, 2 cases of epidermolysis bullosa, 2 cases of Coffin-Siris syndrome, 2 cases of Prader Willi/Angelman syndrome, 2 cases of methylmalonic acidemia mut(0) type, 2 cases of methylmalonic acidemia with homocystinuria CblC type, and 1 case each of Sjogren-Larsson syndrome, maple syrup urine disease type 2, central gigantism syndrome type 2, Neurofibromatosis-Noonan syndrome/neurofibromatosis type 1, Marshall syndrome, X-linked congenital adrenal hypoplasia, Treacher Collins syndrome type 1, multiple congenital anomalies-hypotonia-seizure syndrome, autosomal dominant cutis laxa type 1, congenital central hypoventilation syndrome, spinal muscular atrophy type 2, 16p11.2 deletion syndrome with a 220kb deletion, dilated cardiomyopathy 1CC type, 11q23.3q25 copy number duplication, Kabuki syndrome type 2, Menkes disease, mitochondrial DNA mutation, xeroderma pigmentosum, immunodeficiency type 104, hypohidrotic ectodermal dysplasia, idiopathic infantile arterial calcification, neonatal severe encephalopathy, G6PD-deficient hemolytic anemia, CHARGE syndrome, and Niemann-Pick disease type C1. Conclusion As a precision medical tool, WGS enables a definitive diagnosis for some infants with genetic diseases and allows for early access to personalized treatment plans, thereby holding significant importance in the screening of genetic diseases.
Key words
whole genome sequencing /
genetic disease /
infants
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