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 fewsyndromes that can be treated in utero withthoracoamniotic shunting or pleurodesis byOK-432 as two major therapeutic modalities.We report on a fetus with Noonan syndromeand a missense mutation c.182A>C(p.Asp61Ala) of PTPN11 who respondedpoorly to antenatal pleurodesis by OK-432.Based on our previous publication and thiscase study, we propose that fetal chylothoraxof a distinct genetic origin may respondpoorly to OK-432 pleurodesis.

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