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目的:通过回顾分析4429例高龄孕妇的胎儿染色体核型结果,探讨高龄孕妇的产前诊断和产前筛查方法。方法:选取单纯因高龄、高龄合并血清学筛查高风险和高龄合并超声提示异常于盛京医院产前诊断中心行有创产前诊断的单胎妊娠孕妇共4429例,分析胎儿染色体核型结果。结果:胎儿非多态性染色体异常170例,异常率为3.84%(170/4429),其中数目异常95例,占核型异常的55.88%(95/170);结构异常23例,占核型异常的13.53%(23/170);嵌合体52例,占核型异常的30.59%(52/170)。合并血清学筛查高风险组与单纯高龄组相比,数目异常发生率有升高趋势,但差异无统计学意义(P>0.05)。合并超声提示异常组与单纯高龄组相比,数目异常发生率有明显升高趋势,差异有统计学意义(P<0.05)。随着年龄段的升高,染色体数目异常发生率明显增高,差异有统计学意义(P<0.05)。伴有超声异常的高龄孕妇其胎儿染色体数目异常发生率随年龄升高更加明显,差异有统计学意义(P=0.001)。结论:孕期超声检查对高龄孕妇唐氏儿筛查十分重要,合并超声提示异常的高龄孕妇其胎儿染色体异常发生率明显升高,建议行有创产前诊断。
OBJECTIVE: To investigate the prenatal diagnosis and prenatal screening of advanced pregnant women through retrospective analysis of fetal chromosome karyotype of 4429 pregnant women. Methods: A total of 4429 singleton pregnancies with prenatal diagnosis of prenatal diagnosis in the prenatal diagnosis center of Shengjing Hospital were enrolled in this study. The results were as follows: . Results: Fetal non-polymorphism chromosomal abnormalities in 170 cases, the abnormal rate was 3.84% (170/4429), of which 95 cases were abnormal, accounting for 55.88% (95/170) of abnormal karyotype; structural abnormalities in 23 cases, accounting for karyotype Abnormal 13.53% (23/170); chimerism in 52 cases, accounting for 30.59% (52/170) karyotype abnormalities. Compared with the simple elderly group, there was an increasing trend in the number of high-risk serology screening group, but the difference was not statistically significant (P> 0.05). Compared with the simple senior group, the number of abnormalities in the abnormal ultrasound group showed a significant increase trend, the difference was statistically significant (P <0.05). With the increase of age, the incidence of abnormal number of chromosomes was significantly increased, the difference was statistically significant (P <0.05). The incidence of abnormalities in the number of fetuses in elderly pregnant women with ultrasound abnormalities was more obvious with age, the difference was statistically significant (P = 0.001). Conclusion: Ultrasound examination during pregnancy is very important for Down’s screening of elderly pregnant women. The incidence of fetal chromosomal abnormalities in elderly pregnant women with ultrasound abnormalities is significantly increased. It is recommended to have prenatal diagnosis.