Correlation Analysis Of Fetal Central Nervous System Abnormalities And Chromosomal Abnormalities With Ultrasonography

Objective: To investigate the clinical application value of ultrasound testing in detecting fetal central nervous system abnormalities;To study the value of fetal central nervous system abnormalities detected by ultrasound in predicting chromosomal abnormalities.Methods: A total of 14322 pregnant women who underwent prenatal screening in the Ultrasound Department of Zibo Women and Children’s Hospital from January 2018 to December 2020 were selected as the observation subjects.Their prenatal ultrasound results were recorded and the characteristics of fetal central nervous system abnormalities in different pregnancy periods were analyzed.Meanwhile,their pregnancy results or induced labor records were tracked,and the specificity of ultrasound diagnosis in detecting fetal central nervous system abnormalities in the early,middle and late pregnancy periods was calculated according to the final pathological results.The distribution and ultrasonographic manifestations of fetal central nervous system abnormalities were summarized.A retrospective analysis was performed on 145 cases who were diagnosed as having fetal central nervous system abnormalities by ultrasound examination and given invasive prenatal diagnoses in Zibo Women and Children’s Hospital from January 2018 to December 2020.All the cases in this group underwent amniocentesis,CMA analysis and conventional G-banding karyotype analysis in cell culture,so as to analyze the ultrasonographic features of fetal central nervous system abnormalities,chromosomal abnormalities karyotypes and pathogenic molecular karyotypes.Results: 285 cases with central nervous system abnormalities were detected through prenatal ultrasound review,postpartum ultrasound scan or pathological examination of children patients or gross specimens,including 11 cases of anencephaly,9 cases of exposed encephaly,4 cases of meningocele,8 cases of spina bifida,15 cases of fetal hydrocephalus,11 cases of agenesis of corpus callosum,2 cases of Dandy-Walker malformation,11 cases of holoprosencephaly,67 cases of lateral ventricle dilation,85 cases of choroid plexus cyst,62 cases of posterior cranial fossa cistern widening.Statistical analysis of case data showed that the accuracy of ultrasonic testing to diagnose fetal central nervous system abnormalities during the early,middle and late pregnancy periods was respectively 99.37% and 99.99%.Among the 285 cases of central nervous system abnormalities found by ultrasound,145 cases of pregnant women were detected by traditional G-banding chromosomal karyotype analysis,a total of 15 cases of karyotype abnormalities were found,including 2 cases with Trisomy 21,11 cases with trisomy 18,and 2 cases with chromosomal structure abnormalities.A total of 13 cases of karyotype abnormalities and 6 cases of pathogenic copy number variation were detected by CMA analysis,and the karyotype abnormalities include 2 cases of trisomy 21 and 11 cases of trisomy 18.Both the conventional G banding karyotype analysis and CMA analysis showed that the incidence of trisomy 18 in choroid plexus cysts was higher than that of lateral ventricular widening and posterior fossa cisterna widening.The abnormal detection rate of CMA analysis was higher than that of conventional G banding karyotype analysis.In the group of non-isolated CNS abnormalities with chromosomal abnormalities,there are 12 cases with fetal cardiac abnormalities,5 cases with limb abnormalities,5 cases with other CNS abnormalities,and4 cases with nasal bone loss.The chromosome detection rate of the non-isolated CNS abnormalities group was higher than that of the isolated CNS abnormalities group(x2=2.95,P=0.086).Conclusions:(1)Fetal central nervous system abnormalities have typical sonographic characteristics.Ultrasound is of great value for screening fetal central nervous system abnormalities.(2)There is a certain correlation between fetal central nervous system abnormalities and chromosomal abnormalities,and some chromosomal abnormalities karyotypes can be roughly inferred according to the specific ultrasound signs.