Natural history and outcome of prenatally diagnosed cystic hygroma.
OBJECTIVE
To define the outcome in cases of cystic hygroma diagnosed from a routine obstetric population.


METHODS
This was a retrospective study of 42 cases of fetal cystic hygroma detected at 11 to 23 weeks' gestation in a routine obstetric population of 25 352 pregnancies. Fetal cystic hygroma was categorized according to position, severity, presence of cardiac defects and Hydrops fetalis.


RESULTS
There were 20 (47.6%) cases with aneuploidy (9 trisomies and 11 Turner's syndrome). Major congenital cardiac defects were identified in 12 (28.6%) cases. Regression of the hygroma was noted in 2/20 (10%) of the aneuploid pregnancies and 3/17 (17.6%) of the euploid pregnancies. The majority (90.0%) of the aneuploid fetuses were female. In contrast, 70.58% of the fetuses in the euploid group were male and all the surviving normal babies were also male (n = 3).


CONCLUSIONS
The findings of this study would support invasive prenatal diagnosis for an ultrasound finding of fetal cystic hygroma. Even in euploid pregnancies with cystic hygroma, there is a high mortality with associated abnormalities. The data also suggest a guarded pregnancy prognosis for the finding of fetal cystic hygroma, and that it is improved with spontaneous resolution, especially in male fetuses of normal karyotype.
Ganapathy
R
R
Feto-Maternal Medicine Unit, Academic Department of Obstetrics and Gynaecology, St George's Hospital Medical School, Cranmer Terrace, London SW17 0RE, UK.
Guven
M
M
Sethna
F
F
Vivekananda
U
U
Thilaganathan
B
B
D000782:Aneuploidy; D000013:Congenital Abnormalities; D005260:Female; D005313:Fetal Death; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D005865:Gestational Age; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D018191:Lymphangioma, Cystic / Q000000981:diagnostic imaging* / Q000235:genetics; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome; D012189:Retrospective Studies; D014314:Trisomy; D014424:Turner Syndrome; D016216:Ultrasonography, Prenatal