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 Sc

hool 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.