sharp!The research results of this hospital are published in the international frontier issue, or can more accurately detect the malformations of the fetal central nervous system

Jimu Journalist Li Manying

Correspondent Wen Honglei Huang Jieying

Fetal central nervous system malformation is one of the most common prenatal malformations. On June 17, Jimu Journalists learned that the Chen Xinlin team of the Hubei Provincial Maternal and Child Health Hospital published the latest research results in the "NPJ Genomic Medicine" on June 13th. The genome structure of fetal nervous system deformity is evaluated for the testing ability of the general genome sequencing for fetal nervous system deformity. This result may provide new choices for integrated testing for prenatal diagnosis.

Article Screenshot (Photo Conferry, Hubei Provincial Maternal and Child Health Hospital)

It is understood that the fetal central nervous system deformity is one of the most common prenatal malformations. Clinically, the main manifestations of brain deformed, cerebral hydrocephalus, cerebral spinal membrane swelling, spinal spine, lip fissure, and cleft palate. According to survey data, the incidence of neurotransoplasty alone reached 18.6. At present, the clinical application of neurological deformity screening methods mainly include imaging detection, nuclear analysis, chromosomal micro -array analysis and other methods, which cannot be fully covered to the time limit for prenatal testing and the complexity of fetal prenatal diseases.

In recent years, Hubei Province's birth defect precision center and the China University of China, from the clinic, collected 162 central nervous system deformities related to clinical samples with accurate ultrasonic diagnosis and screening. Through the statistical analysis of these mutations, the sequence of the whole genome was effectively diagnosed, and 62 nervous system malformations were effectively diagnosed, and the detection rate reached 38.3%. Among them, the detection rate of cerebellar dysfunction and the overall brain deformity exceeded 70%. At the same time, the research team collected 29 key genes containing diagnostic mutations, of which 5 of them appeared in more than 1 sample. These diagnostic mutations detected 70.8%among the fetal system and non -central nervous system malformations, while the detection rate in the fetus with only a central nervous system malformation was 24.6%.

"Compared with the previous detection methods, this is a more comprehensive form of genetic testing and genetic disease screening that covers a variety of diseases including central nervous system malformations." Chen Xinlin, chief expert of the ultrasound department of the Provincial Maternal and Child Health Hospital, introduced that the research results obtained by the abnormal gene diagnosis field of the prenatal fetal nervous system have laid the foundation Moms provide more effective ways to prevent birth defects.

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