胎儿水囊状淋巴管瘤的产前诊断及预后分析

Prenatal diagnosis and pregnosis on the fetus with cystic hygroma lymphangioma

目的探讨胎儿囊性淋巴瘤(cystic hygroma,CH)的产前诊断及妊娠期的处置。方法回顾性分析2006年1月～2008年4月间我院35例胎儿CH产前超声声像、介入性羊膜腔穿刺查胎儿染色体及TORCH感染情况、胎儿病理。结果发生在颈背部者33例,腋窝2例。足月分娩6例并存活,引产29例(包括死胎2例)。染色体核型分析异常者共19例,占58%,其中Turner′s综合征最常见,共11例,占33%;Down′s综合征5例,占15%;Trisomy182例,占6%;Tri-somy131例,占3%。结论超声及介入性羊膜腔穿刺查胎儿染色体在早期诊断及处置胎儿CH起决定性作用,胎儿CH与Turner综合征等染色体异常相关。

Objective： To develop an algorithm for the prenatal management of patients when a cystic hygroma is diagnosed by ultrasonography. Methods ： We report a personal series of 35 cases diagnosed between 11 and 25 weeks gestation. We focused on the etiologies and the value of various prognostic factors in the management of cystic hygromas. These include karyotype, sonographic findings in the fetus and withinthe hygroma itself, and natural history. Results： According to the literature, fetal chromosomal abnormalities were associated with cystic hygromas in 58% of the cases. Turner＇s syndrome remains the most common （33%） but Down＇s syndrome, Trisomy 18 andTrisomy 13 are not rare （ 15, 6 and 3% ）. The literature reports that only 17% of cases result in healthy children with normal karyotypes. The remaining 83% are terminated. Conclusion： Ultrasound and invasive amniocentesis to detect the fetal karyotype have an important role in early diagnosis and management of nuchal cystic hygroma. Nuchal cystic hygromas are associated with Turner＇s syndrome and other chromosomal abnormalities.