122例胎儿肾盂扩张与染色体非整倍体的关联性分析  

Correlation between Fetal Pyelectasis and Chromosome Aneuploidy: a Retrospective Study of 122 Cases

作　　者：商梅娇[1] 周祎[1] 鲁云涯[1] 陈涌珍[1] 陈宝江[1] 方群[1] 

机构地区：[1]中山大学附属第一医院妇产科胎儿中心,广东广州510080

出　　处：《中山大学学报（医学科学版）》2013年第1期99-103,共5页Journal of Sun Yat-Sen University:Medical Sciences

基　　金：广东省科技基础条件建设项目(2011B060300011);广东省科技计划项目(2009B030801180);广东省国际合作项目(2010B050700006)

摘　　要：【目的】探讨胎儿肾盂扩张在染色体非整倍体产前诊断中的价值,为临床咨询提供指导。【方法】对入选的122例超声诊断为肾盂扩张且行产前介入性诊断(羊膜腔穿刺或脐静脉穿刺)的胎儿,回顾其染色体核型分析结果,了解妊娠结局。【结果】1)122例胎儿染色体核型中,87.7%(107/122)核型正常,4.9%(6/122)核型异常,7.4%(9/122)染色体核型多态性。2)Ⅰ组:孤立性肾盂扩张(67例);Ⅱ组:合并一个其他超声软指标(34例);Ⅲ组:合并两个或两个以上其他超声软指标(7例);Ⅳ组:合并胎儿结构畸形(14例)。4组中,染色体核型正常者分别为63例(94%)、28例(82.4%)、7例(100%)、9例(64.3%);染色体核型多态性分别为3例(4.5%)、6例(17.6%)、0例、0例;染色体核型异常分别为1例(1.5%)、0例、0例、5例(35.7%,唐氏综合征3例,其他异常2例)。3)成功随访胎儿107例,其中男孩87例,女孩20例,男:女=4.35∶1。11例终止妊娠,96例活产新生儿,早产4例,足月产92例,顺产35例,剖宫产61例,平均出生孕周为39.1周。10例新生儿出生后因肾积水无缓解或进行性加重行手术治疗。【结论】孤立性肾盂扩张不应直接作为产前诊断指征,但肾盂扩张合并其他超声软指标或者合并胎儿结构畸形,应建议行产前诊断,排除染色体非整倍体,胎儿生后应密切随访泌尿系统功能,绝大多数肾盂扩张胎儿预后良好。[ Objective ] To explore the correlation between fetal pyelectasis and aneuploidy. [ Methods ] A retrospective study of the karyotypes and delivery outcomes of selected 122 cases with fetal pyelectasis. Invasive prenatal procedures （amnioeentesis or eordocentesis） were performed on all 122 patients with ultrasound guidance. [Results] Among the 122 fetal karyotypes, 87.7% （107/ 122） were normal karyotype, 4.9% （6/122） chromosomal abnormality and 7.4% （9/122） chromosomal polymorphism. All the cases were divided into four groups, Group I （67 cases） with isolated pyelectasis, Group II （34 cases） in association with one soft marker, Group m （7／eases） complicated with two or more soft markers and Group IV （14 cases） accompanied with fetal structural malformation. From Group I to IV, there were 94% （63 cases）, 82.4% （28 cases）, 100% （7 cases）, and 64.3% （9 cases） with normal karyotypes, respectively; 4.5% （3 cases）, 17.6% （6 cases）, none case, and none case with chromosomal polymorphism; 1.5% （1 case）, none case, none case, and 35.7% （5 cases, including 3 Down syndrome, 2 other abnormal karyotypes） with abnormal karyotypes. The 107 successfully followed-up newborns, including 87 boys and 20 girls, made the sexy ratio 4.35：1 （boy： girl）. Eleven cases terminated pregnancy. In the 96 alive cases, 4 newborns were delivered prematurely, 92 were termly, 35 eutocia, and 61 cesarean; the average born gestational weeks was 39.1 weeks. Surgeries were carried out on 10 newborns because of hydronephrosis without relieving or exacerbation. [ Conclusion] Isolated pyelectasis should not be a direct indication of invasive prenatal procedures. However, when fetal pyeleetasis is accompanied with other soft markers or fetal structural malformation, invasiveprenatal procedures for aneuploidy is advocated. The urinary system function should be followed up closely after birth, and the majority of the pyelectasis fetuses have satisfying prognosis.

关 键 词：胎儿 肾盂扩张 产前诊断 染色体非整倍体 超声软指标 

分 类 号：R71[医药卫生—妇产科学]