Genetic evaluation and management of fetal chylothorax: review and insights from a case of Noonan syndrome.
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.
Chen
C H
CH
Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan.
Chen
T H
TH
Kuo
S J
SJ
Chen
C P
CP
Lee
D J
DJ
Ke
Y Y
YY
Yeh
K T
KT
Ma
G C
GC
Liu
C S
CS
Shih
J C
JC
Chen
M
M
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