Study on prenatal diagnosis and pregnancy outcome of cases with distortion of the interhemispheric fissure of fetus
Objective To investigate prenatal diagnosis and pregnancy outcome of cases with distortion of the interhemispheric fissure of fetus.Method Retrospectively analyzed prenatal ultrasound and MRI manifestations,genetic examinations and pregnancy outcome of 18 cases,in which distortion of the interhemispheric fissure was found on routine ultrasound scanning in Beijing Obstetrics and Gynecology Hospital during March 2018 and April 2023.Result 12 cases were total distortion of the interhemispheric fissure and 6 cases were partial one.Cases in total distortion group,multiple intracranial anomalies were detected.Major anomalies were 2 cases of hemimegalencephaly,3 cases of cortical malformation,3 cases of bilateral severe ventriculomegaly,2 cases of unilateral severe ventriculomegaly,1 case of suspicious intracranial hemorrhage,1 case of arachnoid cyst.1 case was complicated with extracranial anomaly,Fallot tetralogy.In partial distortion group,5 cases were diagnosed as cortical malformation,and 1 case was intracranial tumor.Three out of 5 cortical malformation cases were diagnosed by ultrasound,whereas remaining 2 cases were diagnosed by MRI.All 6 cases were not complicated by anomalies in other systems.Genetic examinations were performed in 4/12 cases in total distortion group and showed normal karyotyping;in partial distortion group,genetic examinations were carried out in 3 cases,including normal karyotyping and CNV in 1 case;normal CNV in 1 case;normal karyotyping and CNV,but WES showing de novo mutation of TUBB3 gene.In total distortion group,8 cases chose termination of pregnancy(TOP).2 cases were lost in follow up,whereas 2 cases continued pregnancy till term and delivered.In one case neonate did not survive the surgery for Fallot tetralogy at age of 11 months,and the other case with bilateral hydrocephaly received intracranial cyst shunting after birth for relief pressure on foramen Monroe,and achieved normal neuromotor development.All of 6 cases in partial distortion group underwent TOP.Conclusion Distortion of interhemispheric fissure was complicated with severe intracranial anomalies,implicating negative pregnancy outcome,partial distortion of interhemispheric fissure is a valuable sonographic marker indicating fetal cortical malformation.Detection of distortion sign should prompt further neurosonography,MRI and genetic examinations for definite diagnosis and optimal prenatal management.
万方数据
维普
