Objective:To investigate the diagnostic value of prenatal ultrasound combined with magnetic resonance imaging(MRI)in fetal cardiac rhabdomyoma(CR)and tuberous sclerosis complex(TSC).Methods:Retrospectively analyzed the clinical data,ultrasound and MRI imaging features of prenatal ultrasound diagnosed and suspected fetal CR in The International Peace Maternity,Shanghai Jiao Tong University School of Medicine and Child Health Hospital from January 2010 to October 2022.Results:A total of 41 cases of fetal CR were diagnosed or suspected by prenatal ultrasonography,all of which were singletons.At the same time,30 cases(73.2％)underwent MRI examination,of which 11 cases(36.7％)were diagnosed as simple CR,16 cases(53.3％)were combined with intracranial TSC.At the same time,3 cases of MRI did not find fetal cardiac mass,of which 1 case was confirmed as hypertrophic muscle bundle by echocardiography after birth,1 case of neonatal echocardiography was normal,and 1 case was lost to follow-up.Among the 41 cases,12 cases underwent further prenatal karyotype analysis and whole exome sequencing(WES),4 cases were found to be abnormal,and 3 cases were confirmed to have TSC gene mutation by gene detection.Conclusion:Prenatal ultrasound is the first choice for CR,which is of great value in the detection and diagnosis of CR.Ultrasound combined with MRI can further improve the diagnostic accuracy of CR and the detection rate of TSC.Combined with chromosome karyotype and TSC related gene detection,it can provide better prenatal diagnosis consultation and prognosis evaluation.
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