珠海市587例超声异常胎儿的染色体核型分析

Analysis of 587 cases of abnormal ultrasound fetal karyotyping in zhuhai city

目的探讨产前超声异常与胎儿染色体异常间的关系，同时评估不同超声异常在胎儿染色体检测中的应用价值。方法对1999年1月至2013年5月就诊于珠海市妇幼保健院，因超声异常（包括超声软指标和结构异常）而进行侵入性产前诊断的587例孕妇的临床资料进行回顾性分析及统计学检测。结果587例接受侵入性产前诊断的孕妇中检出染色体异常79例，异常检出率为13．5％。其中孤立性软指标组、复杂性软指标组、单发结构异常组、多发结构异常组的异常检出率分别为8．5％、17．0％、16．7％、39．1％。各组比较差异有统计学意义（P〈0．05）。染色体异常中包括多态43例（54．4％），染色体数目异常27例（34．2％），其他染色体结构异常9例（11．4％）。结论胎儿超声异常与胎儿染色体异常有密切关系，且是提示染色体异常的直观依据，对超声异常的胎儿，尤其是复杂性软指标、单发结构、多发结构异常的胎儿进行侵入性产前诊断，可提高染色体异常的检出率。对孤立性软指标胎儿需结合多项指标综合分析，以减少不必要的侵入性产前诊断。

Objective To investigate the relationship between prenatal ultrasound abnormalities and fetal chromosomal abnormalities. While assessing the application value of different ultrasound abnormalities on the detection of fetal chromosomal abnormalities. Methods From January 1999 to May 2013,587 cases in Zhuhai maternal and child health hospital were given invasive prenatal diagnosis, because of ultrasound abnormalities （ including ultrasound soft targets and structural abnormalities）. And the clinical data were retrospectively analyzed and given statistical testing. Results Five hundred and eighty-seven cases were given invasive prenatal diagnosis, chromosomal abnormalities were detected in 79 ca- ses, the abnormal detection rate was 13.5%. The abnormality detection rate was 8.5%, 17.0%, 16.7% , 39. 1% in isolated soft target group, complex soft target group, single structural abnormalities group, multiple structural abnormalities group, the differences were statistically significant among the groups （P 〈 0.05 ）. Chromosomal abnormalities including chromosomal polymorphism in 43 cases （54. 4% ） ; abnormal number of chromosomes in 27 cases （34. 2% ） ; other structural abnormalities of chromosome in 9 cases （ 11.4% ）. Conclusions There are close relationship between ultrasound abnormalities and chromosomal abnormalities in fetus, and ultrasound abnormalities are prompted intuitive basis for chromosomal abnormalities, For ultrasound abnormalities of the fetus, especially complex soft targets, single structure, multiple fetal structural abnormalities, invasive prenatal diagnosis can improve the detection rate of chromosomal abnormalities. Comprehensive analysis combined With multiple indicators should be applied to fetus with isolated soft targets, in order to reduce the unnecessary invasive prenatal diagnosis.