Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX.
Fetal congenital chylothorax is a rare condition that occurs sporadically or can be associated with abnormal karyotype or structural chromosomal anomalies. We report a unique case of fetal congenital bilateral chylothorax associated with mosaicism 47,XXX/46,XX. A female fetus affected by massive bilateral hydrothorax and ascites was diagnosed at 34(+1) weeks of gestation. Previous ultrasonographic exams were completely normal. Immune causes of hydrops were excluded. Elective cesarean section was performed soon after bilateral thoracocentesis. The analysis of drained pleural fluid revealed its lymphatic nature. The fetal karyotyping, performed on chorionic villi at the 11th week, had shown mosaicism 47,XXX/46,XX, later confirmed in the newborn's blood. We hypothesized that chylothorax may be part of the phenotypic spectrum of 47 XXX karyotype and we suggest an ultrasound follow-up of the fetus at closer intervals than the routine timing for this condition, even if it is not usually characterized by severe phenotypic features.
Obstetric and Gynecology Unit, Department of Biomedical Sciences and Advanced Therapies, University of Ferrara, Ferrara, Italy.
Giorgio
G
Cremonini
Alice
A
Poggi
Roberta
R
Capucci
Fortunato
F
Vesce
Alfredo
A
Patella
Roberto
R
Marci
D000328:Adult; D002585:Cesarean Section; D041321:Chromosomes, Human, X / Q000235:genetics; D002916:Chylothorax / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics* / Q000628:therapy; D007231:Infant, Newborn; D050498:Live Birth; D009030:Mosaicism; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D012720:Severity of Illness Index; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D016896:Treatment Outcome; D014314:Trisomy / Q000235:genetics / Q000503:physiopathology*; D016216:Ultrasonography, Prenatal
congenital chylothorax; fetal therapies; hydrops fetalis; mosaicism; prenatal diagnosis; triple X syndrome