title: Genetic evaluation and management of fetal chylothorax: review and insights from a case of Noonan syndrome.
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.
authors.affiliation: Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan.
authors.forename: C H
authors.initials: CH
authors.lastname: Chen
authors.forename: T H
authors.initials: TH
authors.lastname: Chen
authors.forename: S J
authors.initials: SJ
authors.lastname: Kuo
authors.forename: C P
authors.initials: CP
authors.lastname: Chen
authors.forename: D J
authors.initials: DJ
authors.lastname: Lee
authors.forename: Y Y
authors.initials: YY
authors.lastname: Ke
authors.forename: K T
authors.initials: KT
authors.lastname: Yeh
authors.forename: G C
authors.initials: GC
authors.lastname: Ma
authors.forename: C S
authors.initials: CS
authors.lastname: Liu
authors.forename: J C
authors.initials: JC
authors.lastname: Shih
authors.forename: M
authors.initials: M
authors.lastname: Chen
mesh_terms: D000328:Adult; D002916:Chylothorax / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005313:Fetal Death; D005838:Genotype; D006801:Humans; D020125:Mutation, Missense; D009634:Noonan Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D018700:Pleurodesis; D011247:Pregnancy; D017211:Treatment Failure; D016216:Ultrasonography, Prenatal