早孕期胎儿颈部囊性淋巴瘤的产前诊断探讨  

Pregnancy outcome after diagnosis of nuchal cystic hygromas at the 1st trimester ultrasound examination

作　　者：李映桃[1] 李小毛[1] 陈小兵[2] 梁伟翔[2] 陈敦金[2] 

机构地区：[1]中山大学第三附属医院 [2]广州医学院第三附属医院广州市重症孕产妇救治中心,510150

出　　处：《中国优生与遗传杂志》2007年第5期73-75,共3页Chinese Journal of Birth Health & Heredity

基　　金：广州市卫生局科研课题(编号:2005-YB-165)

摘　　要：目的探讨早孕期超声探测胎儿颈部透明层厚度(nuchal translucency,NT)在诊断胎儿颈部囊性淋巴瘤(Fetal nuchal cystic hygrom as,NCH)的作用以及早孕期诊断NCH的胎儿预后。方法前瞻性分析我院2004年9月~2006年9月两年间,孕10~14w开展胎儿NT检查孕妇共520例,胎儿NT≥3mm者,介入性穿刺查胎儿染色体或基因,胎儿病理。结果520例中,胎儿NT≥3mm者6例,阳性率为1.17%。其中2例为巴氏水肿胎儿,均在孕16w超声介导下行“羊膜腔穿刺术”,羊水α地中海贫血基因诊断确诊。父母均在婚检确诊为轻型α地中海贫血。4例(1例双胎)为NCH,NCH的检出率为0.78%。NCH超声图像:胎儿颈部小囊肿8.5mm×5.8mm至9.1mm×7.5mm,NT为2.5mm^4.0mm。绒毛及羊水染色体检查1例,为46,XY,Yqh-。6例均行引产。胎儿病理:颈部囊状淋巴瘤4例,分别合并先天性上肢关节屈曲畸形、先天性胸腺发育不全、先天性胸腺缺如和Ⅱ型多囊肾。巴氏水肿胎儿2例。结论早孕期超声探测胎儿NT可以早期诊断NCH、水肿胎儿和其它染色体异常胎儿,早孕期发现的NCH多伴发多发畸形。Objective： To discuss the role of measurement nuchal translucency （NT） in diagnosis and management options of fetal nuchal cystic hygroma （NCH） , Methods： 512 cases from Sep/2004 to Sep/2006 were spectively analysised, The Sonographic images, fetal karyotype examination after amniocentesis or pathology were reviewed. Results： 6 cases could be measured nuchal translucency （NT） more than 3mm. 2 cases were HbBart＇s hydrops, 4 cases were NCH. The sonogram of NCH detected a small cystic mass around the posterior of the neck. They were 8.5mm ×5. 8mm and 9.1mm ×7.5mm in size. Six cases were induced. The karyotype examination was performed in 3 cases. One was 46, XY, Yqh - , the other were HbBart＇s hydrops. Fetal pathology result were： Four eases were NCH, also had other abnormalities （ twins were thymic dysplasia, One was polycystic kidney disease （ POTTER TYPE Ⅱ ）, the other was skeletal abnormalities）. Two cases were HbBart＇s hydrops, Parent＇s karyotype of NCH examination were normal. Conclusions： NT could be used in diagnosis and management options of NCH, HbBart＇s hydrops and other abnormalities. NCH that found in the first trimester of pregnancy are associated with many other abnormalities.

关 键 词：胎儿颈部透明层厚度 囊性淋巴瘤 水肿胎儿 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]