胎儿染色体非整倍体与产前超声特征的对比分析

Comparison analysis on fetal aneuploid and prenatal ultrasound features

目的探讨胎儿非整倍体的产前超声特征。方法收集99例曾在孕11周-13+6周及孕18周-24周间进行产前超声检查的胎儿非整倍体的核型和超声资料,分析非整倍体超声指标异常的数目和类型。结果 99例包括21三体53例,18三体23例,13三体5例,性染色体非整倍体(SCA)16例和其他非整倍体2例。83.8%出现超声指标异常,50.5%出现多项指标异常,33.3%出现单项指标异常,16.2%未出现指标异常,包括21三体7例和SCA 8例;21三体常见指标异常有颈项透明层(NT)增厚、鼻骨缺失、室缺、三尖瓣反流;18三体常见指标异常有NT增厚、室缺、双手姿势异常;13三体最常见畸形为全前脑;SCA常见指标异常有颈部水囊瘤、NT增厚。结论单项超声指标异常也不排除胎儿非整倍体,部分21三体及SCA产前超声指标未见异常,各非整倍体的异常超声指标分布及特征性超声指标有所不同。

Objective： To evaluate the prenatal ultrasound features of fetal aneuploid. Methods： 99 cases of aneuploid with ultrasound examination during 11-13^＋6 gestation weeks and 18-24 gestation weeks were selected to analyze the number and type of abnormal ultrasound markers. Results： 99 cases included 53 of trisomy 21, 23 of trisomy 18, five of trisomy 13, 16 of sex chromosome aneuploid （SCA） and two of other type aneuploid. Abnormal markers were presented in 83.8% of 99 cases, with multiple markers abnormal in 50.5%, isolated marker abnormal in 33.3%, and no marker abnormal in 16.2%, including 7 of trisomy 21 and 8 of SCA; The common markers of trisomy 21 included thickened nuchal translucency （NT） , absent nasal bone, ventricular septal defect and tricuspid regurgitation; The common markers of tfisomy 18 included thickened NT, ventricular septal defect and abnormal hands posture; The most common malformation of tfisomy 13 was holoprosencephaly; The common markers of SCA included cervical hygroma, thickened NT. Conclusion： Fetal aneuploid can not be excluded although when isolated abnormal ultrasound marker presents. Some trisomy 21 and SCA may not present any abnormal markers; The distribution of abnormal markers and characteristic markers in different kinds of aneuploid may be different.