ABSTRACT
OBJECTIVE@#To assess the value of genetic screening by high-throughput sequencing (HTS) for the early diagnosis of neonatal diseases.@*METHODS@#A total of 2 060 neonates born at Ningbo Women and Children's Hospital from March to September 2021 were selected as the study subjects. All neonates had undergone conventional tandem mass spectrometry metabolite analysis and fluorescent immunoassay analysis. HTS was carried out to detect the definite pathogenic variant sites with high-frequency of 135 disease-related genes. Candidate variants were verified by Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA).@*RESULTS@#Among the 2 060 newborns, 31 were diagnosed with genetic diseases, 557 were found to be carriers, and 1 472 were negative. Among the 31 neonates, 5 had G6PD, 19 had hereditary non-syndromic deafness due to variants of GJB2, GJB3 and MT-RNR1 genes, 2 had PAH gene variants, 1 had GAA gene variants, 1 had SMN1 gene variants, 2 had MTTL1 gene variants, and 1 had GH1 gene variants. Clinically, 1 child had Spinal muscular atrophy (SMA), 1 had Glycogen storage disease II, 2 had congenital deafness, and 5 had G6PD deficiency. One mother was diagnosed with SMA. No patient was detected by conventional tandem mass spectrometry. Conventional fluorescence immunoassay had revealed 5 cases of G6PD deficiency (all positive by genetic screening) and 2 cases of hypothyroidism (identified as carriers). The most common variants identified in this region have involved DUOX2 (3.93%), ATP7B (2.48%), SLC26A4 (2.38%), GJB2 (2.33%), PAH (2.09%) and SLC22A5 genes (2.09%).@*CONCLUSION@#Neonatal genetic screening has a wide range of detection and high detection rate, which can significantly improve the efficacy of newborn screening when combined with conventional screening and facilitate secondary prevention for the affected children, diagnosis of family members and genetic counseling for the carriers.
Subject(s)
Child , Infant, Newborn , Humans , Female , Prospective Studies , Connexins/genetics , Connexin 26/genetics , Glucosephosphate Dehydrogenase Deficiency , Mutation , Sulfate Transporters/genetics , DNA Mutational Analysis , Genetic Testing/methods , Deafness/genetics , Neonatal Screening/methods , Hearing Loss, Sensorineural/genetics , High-Throughput Nucleotide Sequencing , Solute Carrier Family 22 Member 5/geneticsABSTRACT
Objective@#To characterize the relations between the practice of parenting and associated factors on children (0-5 years old) in urban areas of China, in order to provide evidence for promoting the early development of children and to provide positive guidance and service programs on parenting.@*Methods@#A total of 4 515 parents from 15 cities (14 provinces) were surveyed with a self-administered questionnaire. Parenting and Family Adjustment Scales (PAFAS) was used, including parameters as: consistency and coercive parenting, positive encouragement, parent-child relationship and parental emotion adjustment, family relationship and parental teamwork aspects, etc. Both single factor analysis and multiple linear regression were used to examine the associations between parenting practice, individual, parental and family factors.@*Results@#The mean score of PAFAS was 21.00 (15.00-28.00), associated with factors as children’s age, only-child family, premature delivery, father’s education level, confidence on parenting, problems regarding the parental mood, annual family income, family structure and behavior on seeking professional help, etc. Results showed that there were big differences on the practice of parenting in China and influenced by variety of factors.@*Conclusions@#The general situation of parenting was well, in the urban areas of China. The practice of parenting was associated with a series of individual, parental and family factors. Programs on improving the parenting skills and promoting the early development of children, should be highlighted.