| Part I:The value of chromosome microarray analysis in prenatal diagnosis of fetal ventriculomegalyObjectiveIn this study,prenatal ultrasound and amniocentesis results of the fetus with ventriculomegaly(VM)were statistically analyzed,and then the value of the chromosomal microarray analysis(CMA)in prenatal diagnosis of fetal VM and the relationship between VM and chromosomal abnormalities were explored,in order to provide reference for clinical consultation.Materials and methods637 pregnant women diagnosed as fetal VM and undergoing amniocentesis in the Third Affiliated Hospital of Zhengzhou University from August 2018 to June2020 were collected,and the results of CMA and ultrasound examination were retrospectively analyzed.The measurement data were expressed by(?)±s,and the count data were expressed by n(%).Chi square test was used for the comparison among different groups.P<0.05 was statistically significant.Results1.Among all the cases of fetal VM,the most easily combined soft index of ultrasound was posterior fossa cistern dilatation(61.9%),the most easily combined central nervous system(CNS)was ependymal cyst(about 30.6%),and the most easily combined abnormaity except CNS was cardiovascular malformation(about42.9%).2.The abnormal rate of CMA was 13.7%(87/637),the four most easily detected abnormalities in this study were:21 trisomy accounting for about 29.9%(26/87),chromosome 2 difficiency or repeatment accounting for about 17.2%(15/87);chromosome 7 difficiency or repeatment,accounting for about 10.3%(10/87);chromosome 16 difficiency or repeatment,accounting for about 9.2%(8/87).3.The proportion of CMA results in the five groups were 4.9%(17/345),13.1%(11/84),16.9%(12/71),14.3%(8/56),48.1%(39/81),respectively.There was significant difference in the abnormal rate of CMA detection in each group(χ~2=104.683,P<0.001),among which the abnormal rate of CMA results in the simple VM group was significantly lower than that of the other four groups(P<0.05),and the abnormal rate of CMA results in the combined with various abnormal groups was significantly higher than that of the other four groups(P<0.05),and there was no statistical significance between the other groups(P>0.05).ConclusionThe risk of genetic abnormalities in VM fetus increased when other abnormalities existed.Part II Prognostic value of imaging examination in fetus with ventriculomegalyObjective The purpose of this study is to explore the significance of imaging diagnosis in fetal VM,and to provide reference for clinical prenatal consultation.Materials and methods From August 2018 to June 2020,383 fetuses diagnosed as VM by prenatal ultrasound and then by fetal MRI within 72 hours in the Third Affiliated Hospital of Zhengzhou University were selected.According to the degree of VM,unilateral or bilateral,symmetry or asymmetry,whether it is simple and the outcome of lateral ventricle width,the patients were divided into different groups.The imaging data of each group and the results of regular neurological development assessment in our hospital after birth were compared and analyzed.The postnatal imaging results of live birth cases were compared with the prenatal MRI and US examination results.Measurement data were expressed by (?) ± s,and the count data were expressed by n(%).Chi square test was used for univariate analysis of classification data,and logistic regression analysis was used for multivariate analysis of classification data.P < 0.05 was statistically significant.Result 1.The relationship between the characteristics of VM and CNS malformation Among the 383 cases,103 cases were combined with CNS abnormalities,posterior fossa cistern dilatation or posterior fossa cyst(23.3%,24 / 103),hemorrhage(17.5%,18 / 103),ACC(17.5%,18 / 103)and CSP abnormality 13.6%(14 / 103),ependymal cyst 11.7%(12/ 103),cortical dysplasia 6.8%(7 / 103),others 9.7%(10/103).Univariate analysis showed that the degree of dilation,unilateral or bilateral were associated with CNS abnormalities(P < 0.05),but the symmetry of lateral ventricle dilation was not associated with CNS abnormalities(P > 0.05).Logistic regression analysis showed that severe dilation(OR: 7.583,95% CI: 3.372~17.050,P < 0.001),bilateral dilation(OR: 2.270,95% CI: 1.169~4.409,P = 0.016)were risk factors for CNS abnormalities.2.The relationship between the characteristics of VM and the neurodevelopment results Among the included cases,122 cases were followed up for regular neurodevelopmental assessment.Univariate analysis showed that the abnormal evaluation results of CNS development after birth were related to the degree of dilation,wether combined with abnormalities and the outcomes(P < 0.05),while not related to unilateral/bilateral,symmetry(P > 0.05).Logistic regression analysis showed that severe lateral ventricular dilatation(OR: 15.173,95% CI: 1.057~217.768,P = 0.045),combined abnormalities(OR: 26.254,95% CI: 3.849~179.080,P = 0.001)and outcomes turining out to be persistant(OR: 78.266,95% CI: 9.795~625.358,P < 0.001)were risk factors for abnormal neurodevelopment assessment results.3.Comparison of US and MRI in the diagnosis of malformation A total of 108 cases of live birth were followed up.Compared with the results of MRI and US examination after birth,68 cases were found to be consistent between those two imaging methods,23 cases were corrected by prenatal MRI,12 cases were supplemented by prenatal MRI,4 cases were supplemented by US,1 case was missed by prenatal US and MRI examination.Conclusion 1.Severe and bilateral VM were easy to be associated with other CNS malformations;2.The degree of dilation,whether combined with other imaging abnormalities and outcomes were the main factors affecting the neurodevelopment;3.Fetal MRI has a certain application value in the diagnosis of lateral ventricular dilatation,and can provide additional information beyond ultrasound especially when VM combined with the cerebral hemorrhage or CCA. |
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