Genetic evaluation and management of fetal chylothorax: Review and insights from a case of Noonan syndrome

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Title:	Genetic evaluation and management of fetal chylothorax: Review and insights from a case of Noonan syndrome
Authors:	Chen, C.-H.a, Chen, T.-H.a, Kuo, S.-J.b, Chen, C.-P.g, Lee, D.-J.c, Ke, Y.-Y.de, Yeh, K.-T.f, Ma, G.-C.d, Liu, C.-S.c, Shih, J.-C.h, Chen, M.ac
Contributors:	Department of Life Sciences, Tunghai University
Keywords:	Fetal chylothorax;Fetal pleural effusion;Fetal therapy;Genetic counseling;Hydrops fetalis;Lymphangiogenesis;Noonan syndrome;OK-432;PTPN11 mutation
Date:	2009
Issue Date:	2013-05-24T09:13:59Z (UTC)
Abstract:	Fetal chylothorax is one of a very few syndromes that can be treated in utero with thoracoamniotic shunting or pleurodesis by OK-432 as two major therapeutic modalities. We report on a fetus with Noonan syndrome and a missense mutation c.182A>C (p.Asp61Ala) of PTPN11 who responded poorly to antenatal pleurodesis by OK-432. Based on our previous publication and this case study, we propose that fetal chylothorax of a distinct genetic origin may respond poorly to OK-432 pleurodesis.
Relation:	Lymphology Volume 42, Issue 3, September 2009, Pages 134-138
Appears in Collections:	[生命科學系所] 期刊論文

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