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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 investigate the prenatal ultrasound features of fetal aneuploidy. Methods The karyotype and ultrasound data of 99 aneuploidy fetuses who had been tested for prenatal ultrasound at 11 weeks of pregnancy -13 + 6 weeks and 18 weeks-24 weeks of gestation were collected. The number of aneuploidy abnormalities And type. Results 99 cases including 21 trisomy 53, 18 trisomy 23, 13 trisomy 5, 16 cases of sex chromosome aneuploidy (SCA) and other aneuploidy in 2 cases. 83.8% showed ultrasound abnormalities, 50.5% showed multiple abnormalities, 33.3% showed single abnormalities, 16.2% did not appear abnormal indicators, including 21 trisomy 7 and SCA 8 cases; 21 trisomy common indicators of abnormal neck transparent layer (NT) thickening, missing nasal bone, ventricular tachycardia, tricuspid regurgitation; common abnormalities of the trisomy NT NT thickening, ventricular anemia, hands posture abnormalities; trisomy 13 most common deformity of the entire forebrain; SCA common indicators Abnormal neck and neck water tumor, NT thickening. Conclusion Abnormal single ultrasound index does not rule out fetal aneuploidy, some of trisomy 21 and SCA were not abnormalities in prenatal ultrasound, the distribution of abnormal aneuploidies and the characteristic ultrasound indexes of aneuploidy were different.