| Part ?:The diagnostic value of ultrasonography-MRI in the screening of fetal central nervous system lesionsObjective:Using MRI as golden standard,the diagnostic value of prenatal ultrasound(US)for fetal central nervous system(CNS)lesions was analyzed in order to provide indications for prenatal MRI examination.Methods:A total of 112706 fetuses scanned by prenatal US and MRI at the obstetric clinic of Drum tower clinical hospital of Nanjing Medical school from January 2011 to August 2017 were included retrospectively.Among them,4104 cases were diagnosed to have CNS lesions by US,and 2639 cases underwent further MRI.We analyzed the main types of fetal CNS lesion and compared the diagnostic value between prenatal US and MRI in the screening of fetal CNS lesions.Results:The type of fetal CNS lesions diagnosed by US included:ventriculomegaly(n=1443),posterior fossa cisterna widening(n=1552),choroid plexus cyst(n=476),agenesis of septum pellucidum cavity(n=337),anencephalus(41),encephalocele(n=12),agenesis of the corpus callosum(n=6),lipoma of corpus callosum(n=6),Dandy-Walker syndrome(n=53),spinabifida(n=92),holoprosencephaly(n=43),cortical development malformations(agyria-pachygyria/polimicrogyria)(n=0),porencephaly deformity(n=3),intracerebral haemorrhage(n=9),arachnoid cyst(n=129).A total of 1706 cases of them were diagnosed by MRI:isolated ventriculomegaly(n=1106),posterior fossa cisterna widened(n=151),choroid plexus cyst(n=42),agenesis of septum pellucidum cavity(n=136),anencephalus(0),encephalocele(n=5),agenesis of the corpus callosum(n=71),lipoma of corpus callosum(n=8),Dandy-Walker syndrome(n=55),spinabifida(n=9),holoprosencephaly(n=15),cortical development malformations(agyria-pachygyria/polimicrogyria)(n=21),porencephaly deformity(n=12),intracerebral haemorrhage(n=11),arachnoid cyst(n=64).Using MRI as golden standard,the sensitivity and specificity of prenatal US in the diagnosis of fetal CNS lesions were evaluated:ventriculomegaly(98.8%and 98.2%),posterior fossa cisterna widening(93.2%and 92.6.%),choroid plexus cyst(94.2%and 90.6%),agenesis of septum pellucidum cavity(66.2%and 82.3%,),encephalocele(100%and 100%),agenesis of the corpus callosum(8.4%and 92.3%),lipoma of corpus callosum(75%and 95.5%),Dandy-Walker syndrome(91.5%and 96.3%),spinabifida(100%and 100%),holoprosencephaly(83.8%and 92.2%),cortical development malformations(agyria-pachygyria/polimicrogyria)(0 and 100%),porencephaly deformity(65.3%and 96.8%),intracerebral haemorrhage(68.3%and 90.6%),hydrocephalus(100%and100%),arachnoid cyst(86.3%and 91.8%).Conclusion:For fetal CNS lesions,such as ventricular dilatation,posterior fossa widening,choroidal cyst,meningeal/encephalocele,corpus callosum lipoma,Dandy-Walker syndrome,spina bifida,forebrain dehiscence and cyst of the retina,US has relatively high sensitivity and specificity of diagnosis.However,pseudocele changes,agenesis of the corpus callosum,brain malformations of cortical development(macrogyria/agyria/gyrencephalic),porencephaly,intracranial hemorrhage,the diagnostic sensitivity and specificity of US are relatively low.The examnination of MRI should be recommended for further definite diagnosis if this kind of lesions was considered by US.Part ?:Comparative study between radiology and pathology in the diagnosis of fetal central nervous system abnormalityObjective:Using pathological findings of aborticide fetus as gold standard,we aimed to compare the diagnostic power between prenatal Ultrasonography(US)and Magnetic Resonance Imaging(MRI)in fetal central nervous system(CNS)abnormality.We also analyze the imaging features as well as the reasons of misdiagnosis and missed diagnosis of prenatal US and MRI in fetal CNS malformation.Methods:Retrospective analysis was performed on 620 cases of aborted fetuses.Among them,106 cases of aborted fetuses had fetal central nervous system(CNS)lesions,meanwhile,there are 36 cases fetuses examined by MRI and US before aborted.The diagnostic sensitivity and specificity of US and MRI was compared(p<0.05 was considered as significant different between groups when cases more than 5),while the diagnostic accuracy of US and MRI was compared(p value was not able to report when cases less than 5).Results:The diagnostic sensitivity and specificity of US and MRI for ventriculomegaly/hydrocephalus(n=30)were both 100%and the difference was not statistically significant(p>0.05).Sensitivity of US and MRI for the diagnosis of agenesis of the corpus callosum(n=20)was 20%and 95%respectively,and the difference was statistically significant(p<0.01),specificities were both 100%,and the difference was not statistically significant(p>0.05).Sensitivity of US and MRI for the diagnosis of intracranial(n=11)hemorrhage was 19%and 18%respectively,and the difference was not statistically significant(p>0.01),specificities were both 100%,and the difference was not statistically significant(p>0.05).While the pachygyria-lissencelphalia,polymicrogyria(n=8)were not able to detected by US,their sensitivity and specificity of MRI were both 100%and the difference was statistically significant(p<0.05).The diagnostic accuracy of US for the diagnosis of choroid plexus cysts(n=2)was 100%,The diagnostic accuracy of MRI for the diagnosis of choroid plexus cysts(n=1)was 100%.The diagnostic accuracy of US and MRI for Dandy-Walker syndrome(n=2),lipoma of corpus callosum(n=1)and spinal bifida(n=3)were 100%.The diagnostic accuracy of US and MRI for mild holoprosencephaly(n=1)was 0.Conclusion:Sensitivity and specificity of US and MRI for the diagnosis of fetal ventriculomegaly,spinal bifida,Dandy-Walker syndrome and corpus callosum lipoma are both relative high,indicating the similar diagnostic power between these two techniques.The diagnostic power of MRI is superior to US for the diagnosis of gyral malformations,agenesis of the corpus callosum,porencephaly.The diagnostic power of US and MRI is relatively low in the fetal intracranial hemorrhage.The mild holoprosencephaly was missed to diagnose both by US and MRI in our cohort.Part ?:The Incidence of pathological variation of chromosomes in fetal CNS lesions diagnosed by imaging methodObjective:We analyzed the main types of chromosome mutations in fetal CNS lesions in order to provide indications for follow-up of US and MRI.Methods:These cases were diagnosed to have CNS malformation by US or MRI examination,221 cases had chromosome karyotyping examination,56 cases had chromosome fetal karyotype abnormalities.Results:221 cases were examined by chromosome,145 cases were ventricular expansion(65.6%),118 cases were normal karyotype,27 cases were chromosome mutations,11 cases were pathological variation(7.5%),5 cases may be benign variation,5 cases may be pathological variation,5 cases of clinical significance was unclear.13 cases of agenesis of the corpus callosum(5.9%),6 cases were normal karyotype,7 cases were chromosome mutations,5 cases were pathological variation(46.1%),1 case of clinical significance is unclear.2 cases were holoprosencephaly(0.9%),1 case was normal nuclear type,and 1 case of trisomy-18(50%).6 cases were Dandy-Walker syndrome(2.7%),4 cases were normal,1 case was chromosome variation(16.7%),1 case of clinical significance was unclear.27 cases of choroid plexus cyst(12.2),15 cases were normal,12 cases were chromosome mutations,7 cases were pathological variation(trisomy-18 in 5 cases,1 case of trisomy-21 in 1 case)(25.9%),2 cases may be benign variation,3 cases of clinical significance is unknown;There were 12 cases of arachnoid cyst,8 cases of normal nuclear type,4 cases were chromosomal variation,3 cases of pathological variation(16.7%),and 1 case was benign variation.,2 cases of clinical significance is unknown.12 cases of neural tube defects(anencephaly/exencephaly/encephalocele/meningoceles/spinabifida)(5.3%),10 cases were normal nuclear type,2 cases of pathological variation(16.7%).4 cases of cortical development malformations(agyria-pachygyria/polimicrogyria)(1.8%),3 cases were chromosomal variation,1 cases of pathological variation(25%),and 1 case was benign variation.Conclusion:The total incidence of fetal chromosomal mutation was 25.3%when the central nervous system abnormality is diagnosed by ultrasonography and MRI examination.The incidence of pathological variationventricular expansion,agenesis of the corpus callosum,holoprosencephaly,Dandy-Walker syndrome,choroid plexus cyst,arachnoid cyst,neural tube defects,cortical development malformations(agyria-pachygyria/polimicrogyria)was 7.5%?46.1%?50%?16.7%?25.9%?16.7%?16.7%?25%respectively.Chromosome karyotypemay is necessary to be analyzed when the central nervous system abnormality is diagnosed by ultrasonography and MRI examination. |
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