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), p.134-138.

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Published on
20 Aug 2009
Peer Reviewed