胎儿结构畸形、微小畸形与染色体异常的相关性研究

To study the relationship between fetal structural abnormalities,mini abnormalities and chromosomal abnormalities

目的通过对不同类型和数量的胎儿结构畸形、微小畸形与染色体异常的关系性研究,从而对具有上述病变的胎儿的遗传咨询和染色体产前诊断做一个更好的指引。方法收集2004年1月至2005年12月因发现胎儿结构畸形和微小畸形于孕中晚期进行脐带穿刺术及染色体检查病例120例。统计不同的结构畸形、微小畸形的染色体异常核型的检出率、检出类型。并对所有病例进行术后或出生后随访。结果脐带穿刺术和脐血染色体培养成功率为100%,检出异常核型13例(10.8%)。其中18三体异常核型6例,21三体2例,13三体1例,45,XO(Turner综合征)1例,衍生染色体2例,嵌合体1例。多发畸形染色体异常发生率为40%(8/20);单发畸形染色体异常发生率为7.3%(3/41);单独存在的胎儿超声软指标染色体异常发生率为2.1%(1/47);多个超声软指标染色体异常发生率为8.3%(1/12)。结论胎儿结构畸形与非整倍体染色体病关系密切,而单独存在的超声软指标发生染色体异常的机率较低,但当出现2个以上软指标时发生染色体异常的几率将增加。我们应根据结构异常的种类和数量,给予孕妇不同的产前咨询意见和提供必要的侵入性检查。

Objective： To study the relationship between fetal structural abnormalities, mini abnormalities and chromosomal abnormalities, in order to give some guidelines of genetic consultation and prenatal diagnosis about these abnormalities. Methods ： Cordocentesis were performed in 120 pregnant women with the indications of fetal major structural abnormalities and mini abnormalities. Culture the fetal cord blood cell and analyse the karyotyping. To statistics the relationship of different typies and number of structural abnormalities and chromosomal abnormalities. In addition, we follow up all of cases after cordocentesis and childbirth. Results： The success rate of cordocentesis and culture is 100%. 13 abnormal karyotypings were checked out （ 10. 8% ）. It detected out six cases of trisomy 18, two cases were trisomy 21, one case was trisomy 13. Two cases is unbalanced translocation, and one was mosaicism. The each rate of chromosomal abnormality in many major abnormalities, single major abnormalities, single sonographic marker and many sonographic is 40%, 7.3%, 2. 1%, 8.3%. Conclusion ： Fetal structural abnormalities is closely associated with chromosomal abnormalities. Fetal with the single sonographic marker had less been detected out with chromosomal abnormalities, however, when there are more than 2 sonographic markers, the risk of chromosomal abnormalities is increasing. We should give the best suggestion or prenatal diagnosis to patients according to the different indications .