对照分析中晚孕胎儿染色体异常与产前超声特征

目的探讨不同染色体异常胎儿的超声特征。方法分析2007年3月—2011年4月接受产前检查且羊水或脐血穿刺结果均显示染色体异常的胎儿31胎,产前超声检查结果记录完整。结果 31胎染色体异常胎儿中,21-三体12胎,18-三体11胎,13-三体3胎,45,XO 3胎,47,XXX 2胎。产前超声检查共诊断23胎异常胎儿,包括21-三体6胎,18-三体11胎,13-三体3胎,45,XO 3胎,检出率为74.19%(23/31)。结论不同的染色体病超声特征不同,需结合多项指标分析,以提高染色体异常胎儿的检出率。

Comparative analysis of chromosomal abnormalities and prenatal ultrasonic characteristics of fetus in the second and third trimester

Objective To observe the ultrasonic characteristics of fetus with chromosomal abnormalities in the second and third trimester. Methods From Mar 2007 to Apr 2011, 31 fetuses with chromosomal abnormalities confirmed by amniotic fluid or umbilical cord blood puncture underwent prenatal diagnosis. The findings of prenatal ultrasound were documented in details. Results In 31 fetuses with chromosomal abnormalities, 12 were detected with 21-trisomy, 11 with 18-trisomy, 3 with 13-trisomy, 3 with 45, XO, and 2 with 47, XXX. Twenty-three of 31 fetuses were detected abnormalities with prenatal ultrasound, including 6 of 21-trisomy, 11 of 18-trisomy, 3 of 13-trisomy, and 3 of 45, XO, the detection rate was 74.19% (23/31). Conclusion Different chromosomal diseases have different prenatal ultrasound characteristics. To improve the detection rate of fetal chromosomal abnormalities, combining analysis of multiple indicators is needed.