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dc.contributor.authorGulati, Nidhi
dc.date.accessioned2018-06-19T12:54:51Z
dc.date.available2018-06-19T12:54:51Z
dc.date.issued2018-06
dc.identifier.citationBMJ Case Rep. 2018 Jun 4;2018. pii: bcr-2017-223902. doi: 10.1136/bcr-2017-223902.en
dc.identifier.urihttp://hdl.handle.net/20.500.12904/1162
dc.description.abstractLymphoedema-distichiasis is an inherited autosomal dominant disorder of the lymphatic system. Rarely, it is associated with fetal hydrops; the risk and severity of which increases with successive generations. The causative gene is a member of the forkhead transcription factor family (FOXC2). We describe a fetus presenting with early-onset, rapidly progressing body wall oedema, bilateral pleural effusions and a pericardial effusion in a mother with known FOXC2 mutation. First trimester chorionic villus sampling confirmed FOXC2 mutation in the fetus when there was only a large nuchal translucency. As the phenotype progressed, the couple consented to in utero ultrasound-guided insertion of sequential bilateral pleuro-amniotic chest drains (at 23 weeks) which successfully drained the pleural effusions. The fetus was delivered at 39 weeks gestation by elective caesarean section in good condition. The shunts were removed postnatally, and the baby was discharged after 7 days. This is the first case described of a fetus with severe early-onset fetal hydrops secondary to FOXC2 mutation successfully treated by the prenatal insertion of bilateral pleuro-amniotic shunts.en
dc.language.isoenen
dc.subjectCongenital Disordersen
dc.subjectMaterno-Fetal Medicineen
dc.subjectObstetrics and Gynaecologyen
dc.subjectPregnancyen
dc.titlePrenatal thoraco-amniotic chest drain insertion to manage a case of fetal hydrops secondary to FOXC2.en
dc.typeArticleen


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