Articles

GENETIC EVALUATION AND MANAGEMENT OF FETAL CHYLOTHORAX: REVIEW AND INSIGHTS FROM A CASE OF NOONAN SYNDROME

Authors: C-H Chen ( ) , T-H Chen ( ) , S-J Kuo ( ) , C-P Chen ( ) , D-J Lee ( ) , Y-Y Ke ( ) , K-T Yeh ( ) , G-C Ma ( ) , C-S Liu ( ) , J-C Shih ( ) , M Chen ( )

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.

Keywords: fetal pleural effusion, fetal chylothorax, fetal therapy, genetic counseling, hydrops fetalis, OK-432, lymphangiogenesis, Noonan syndrome, PTPN11 mutation

How to Cite: Chen, C. , Chen, T. , Kuo, S. , Chen, C. , Lee, D. , Ke, Y. , Yeh, K. , Ma, G. , Liu, C. , Shih, J. & Chen, M. (2009) “GENETIC EVALUATION AND MANAGEMENT OF FETAL CHYLOTHORAX: REVIEW AND INSIGHTS FROM A CASE OF NOONAN SYNDROME”, Lymphology. 42(3).