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Fetal therapy using rapamycin for a rapidly enlarging, obstructive, cervical lymphatic malformation: a case report

Joel Livingston, Nouf Alrowaily, Philip John, Paolo Campisi, Sebastian Ranguis, Tim Van Mieghem, Manuel Carção, Greg Ryan

2021Prenatal Diagnosis31 citationsDOI

Abstract

WHAT'S ALREADY KNOWN ABOUT THIS TOPIC?: Fetal lymphatic malformations (LMs) can be detected on prenatal ultrasound and until recently, therapeutic options were limited. Recently the mammalian target of rapamycin inhibitor rapamycin has emerged as a safe, effective therapy for children with LMs and multiple studies have demonstrated improved efficacy if started early. WHAT DOES THIS STUDY ADD?: We report the first in-utero therapy with rapamycin for a rapidly enlarging, obstructive, fetal cervical LM. Fetal therapy with rapamycin was safe and effective in managing this severe malformation, despite rapamycin being started only in the last 6.5 weeks of pregnancy. We speculate that had rapamycin been commenced earlier, the reduction in mass size might have been even greater.

Topics & Concepts

MedicineIn uteroFetusPregnancyLymphatic systemObstetricsPathologyBiologyGeneticsVascular Malformations and HemangiomasTumors and Oncological CasesTeratomas and Epidermoid Cysts
Fetal therapy using rapamycin for a rapidly enlarging, obstructive, cervical lymphatic malformation: a case report | Litcius