胎儿多发畸形超声诊断与染色体异常的相关性

目的探讨胎儿多发畸形产前超声检查与染色体异常的相关性。方法根据产前超声诊断分为畸形组63例和对照组256例,行染色体核型分析。结果两组男/女性别比、染色体异常发生率差异有统计学意义(P<0.05),畸形组染色体异常核型以18三体、13三体及21三体等数量异常为主,各类型异常核型均显著多于对照组(P<0.05),畸形数目与染色体异常率呈正相关(P<0.05)。心血管系统异常、面颈部异常、中枢神经系统异常及单脐动脉是预测染色体异常的独立因素(P<0.05)。结论多发畸形的胎儿染色体异常率高,产前超声检出心血管系统异常、面颈部异常、中枢神经系统异常及单脐动脉与染色体异常密切相关。

Association of ultrasound diagnosis for fetus with multiple malformations and chromosomal abnormalities

Objective To investigate the association of ultrasound diagnosis for fetus with multiple malformations and chro- mosomal abnormalities. Methods Accorded to the prenatal ultrasound diagnosis, divided into 63 cases of malformation group and control group 256 cases, and had parallel karyotype analysis. Results The difference of male/female and chro- mosomal abnormalities between two groups were statistically significant （P 〈 0.01 ）, abnormal chromosome karyotype of de- formity group the number of trisomy 18, trisomy 13 and trisomy 21 and other abnormalities mainly various types of abnor- mal karyotype were significantly more than the control group （P 〈 0.05）, the abnormal number and chromosomal abnormali- ty rate were positively correlated（P 〈 0.05）. Cardiovascular abnormalities, abnormal face and neck, central nervous system abnormalities and single umbilical artery predict chromosomal abnormalities independent factors （P 〈 0.05）. Conclusion The multiple malformations of fetal chromosomal abnormalities rate, prenatal ultrasound detected cardiovascular abnormali- ties, abnormal face and neck, central nervous system abnormalities and single umbilical artery might be closely related to chromosomal abnormalities.