Document Detail

Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness.
MedLine Citation:
PMID:  16566042     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: 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.
Richard Kharrat; Masami Yamamoto; Joelle Roume; Sophie Couderc; Francois Vialard; Yvette Hillion; Yves Ville
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  26     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2006 Apr 
Date Detail:
Created Date:  2006-04-03     Completed Date:  2006-08-18     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  369-72     Citation Subset:  IM    
Copyright Information:
Copyright 2006 John Wiley & Sons, Ltd.
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.
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MeSH Terms
Chromosomes, Human, Pair 18 / genetics
Congenital Abnormalities / epidemiology,  genetics
Gestational Age*
Hydrops Fetalis / epidemiology
Lymphangioma, Cystic / epidemiology,  genetics*,  ultrasonography*
Maternal Age
Nuchal Translucency Measurement*
Pregnancy Outcome
Pregnancy Trimester, First
Ultrasonography, Prenatal*

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