Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness.
OBJECTIVE
To determine the incidence and to examine the karyotype and the outcome of fetuses diagnosed with cystic hygroma (CH) at 11-14 weeks of gestation.


METHODS
The presence of bilateral cystic anechoic cavities in the neck, nuchal translucency (NT), malformations and hydrops was prospectively recorded in 6894 ultrasound examinations in the first trimester, between 2001 and 2004.


RESULTS
Forty-two fetuses (0.62%) were diagnosed with CH in the first trimester of pregnancy and 60% of these had an abnormal karyotype. NT was > or = 3 mm in 83% and hydrops was present in 40% of the cases. The karyotype was abnormal in 25 (69%) of these, showing trisomy 18 and 45,XO more often than trisomy 21. NT was <3 mm in seven cases (17%); no hydrops was present and only one had an abnormal karyotype (47 + 18). Eight babies with CH without aneuploidy or hydrops were born alive, seven among them were without malformations and are developing normally at 1 to 18 months of age, the remaining one presented with CHARGE syndrome.


CONCLUSIONS
CH is an independent entity from NT and its association with increased NT carries a poor prognosis.
Department of Obstetrics and Gynecology, Université Paris Ile de France Ouest, CHI Poissy-Saint-Germain en Laye, 10 Rue du Champ Gaillard, 78300 Poissy, France.
Richard
R
Kharrat
Masami
M
Yamamoto
Joelle
J
Roume
Sophie
S
Couderc
Francois
F
Vialard
Yvette
Y
Hillion
Yves
Y
Ville
D000328:Adult; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D000013:Congenital Abnormalities / Q000453:epidemiology / Q000235:genetics; D005260:Female; D005865:Gestational Age; D006801:Humans; D015160:Hydrops Fetalis / Q000453:epidemiology; D007621:Karyotyping; D018191:Lymphangioma, Cystic / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics*; D008423:Maternal Age; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011256:Pregnancy Outcome; D011261:Pregnancy Trimester, First; D014314:Trisomy; D016216:Ultrasonography, Prenatal