决定正常核型水囊瘤胎儿结局的相关因素

作     者：Tanriverdi H.A Ertan A.K Hendrik H.J. 白符 

作者机构：Dept. of Obstetrics and Gynecology Karaelmas University Medical School Kozlu 67600 Zonguld ak Turkey 

出 版 物：《世界核心医学期刊文摘（妇产科学分册）》 (Core Journal in Obstetrics/Gynecology)

年 卷 期：2005年第1卷第5期

页      面：15-15页

学科分类：1002[医学-临床医学] 100211[医学-妇产科学] 10[医学] 

主　　题：水囊瘤 正常核型 面部畸形 皮肤水肿 产前诊断 先天性蹼颈 异常染色体核型 自然流产 三体 胎死宫内 

摘      要：Objective: To determine the associated diagnostic findings which are linked wi th adverse fetal outcome in nuchal cystic hygroma. Study design: Based on a seri es of 32 cases, we determined the sonographic morphology of the hygroma, associa ted structural anomalies, karyotypes and autopsy findings. Intrauterine fetal de ath, spontaneous abortion and abnormal karyotypes were assigned as adverse outco me parameters. Results: The mean gestational age at diagnosis was 14.4 weeks (ra nge 10-21). There were 18 nonseptated and 14 septated hygromas. Besides hygroma , associated sonographic detectable structural anomalies were observed in 17 cas es (53.1%). The greatest number of associated sonographic anomalies were hydrop s (31.3%), generalised skin oedema (6.3%) and pterygium colli (6.3%).Cytogene tic analysis revealed an abnormal karyotype in 13 of 26 (50%) invasive procedur es. Turner syndrome and Trisomy 18 (both 15.4%) were the most frequent cytogene tic abnormalities. Autopsy was performed in 24 cases and 16 cases (66.7%) had a n associated autopsy finding to hygroma colli. The most frequent associated auto psy findings were limb and craniofacial anomalies (both 25%). Only 3 (9.4%) mo thers gave birth to healthy newborns. The overall fetal adverse outcome rate was 68.8%(22 cases). Conclusions: Fetuses with NCH are at high risk for adverse ou tcome and detailed prenatal diagnosis including invasive procedures should be of fered. According to the presented autopsy findings, to determine fetal outcome i n NCH cases with normal karyotypes, detailed sonography should be concentrated b eside the exclusion of fetal heart defects and existence of hydrops fetalis, on the skeletal, urogenital and craniofacial anomalies, as these might cause severe morbidity.