ANTENATAL DIAGNOSIS OF FETAL CARDIAC RHABDOMYOMAS AND TUBEROUS SCLEROSIS BY ULTRASOUND AND NIPT. CASE REPORT AND LITERATURE REVIEW

Abstract

Fetal cardiac rhabdomyoma is a rare condition, but it is the most common fetal cardiac tumor, which constitues more than 60% of all cardiac tumors diagnosed during the intrauterine life and post-natal age. The incidence of fetal cardiac rhabdomyomas in the postnatal phase is about 1/40,000. Technical advances in fetal echocardiography have facilitated their prenatal diagnosis. Although rhabdomyomas may form in any part of the heart, they are usually detected in the ventricles and interventricular septal areas. Detectable rhabdomyomas can be found in fetal life as early as 19–20 weeks of gestation, whereas the median diagnostic age is 28 weeks. The incidence of cardiac rhabdomyomas being associated with tuberous sclerosis (TS) is around 50–80%. TS is an autosomal dominant neurocutaneous disorder that most commonly affects central nervous system, heart, skin, retina, kidneys and lungs. Cardiac rhabdomyomas may be the earliest manifestation of TS. Prognostic counseling for pregnant women should include not only the prognosis of the tumor itself but also information regarding the relationship between rhabdomyomas and TS and the prognosis of TS, emphasizing the importance of genetic analysis.