GENETIC EVALUATION AND MANAGEMENT OF FETAL CHYLOTHORAX: REVIEW AND INSIGHTS FROM A CASE OF NOONAN SYNDROME
- 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), 134-138.
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