Concepedia

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

Chang‐Hua Chen, Shu‐Jui Kuo, C.‐P. Chen, D J Lee, Y Y Ke, Kun‐Tu Yeh, Gisela González C, C.S.C. Liu, Jin‐Chung Shih, Ming Chen

PubMed · 2009 · 16 citations · 7 references

Concepts

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.

References

7

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg et al. · Nature Genetics · 2001 · 1.7K citations

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Thoracoamniotic shunting for fetal pleural effusions with hydrops

Olivier Picone, Alexandra Benachi, Laurent Mandelbrot et al. · American Journal of Obstetrics and Gynecology · 2004 · 146 citations

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PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome

Jung Min Ko, Jae‐Min Kim, Gu-Hwan Kim et al. · Journal of Human Genetics · 2008 · 108 citations

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<i>PTPN11</i>analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings

Ka Lee, Bradley R. Williams, Katherine A. Roza et al. · Clinical Genetics · 2009 · 83 citations

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A recurrent <i>ITGA9</i> missense mutation in human fetuses with severe chylothorax: possible correlation with poor response to fetal therapy

Gwo‐Chin Ma, Chin‐San Liu, Shun‐Ping Chang et al. · Prenatal Diagnosis · 2008 · 61 citations

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