产前血清学筛查检出其他染色体异常的分析与探讨

Investigation on other chromosome abnormalities detected in prenatal serum screening.

目的讨论和分析母血清标志物产前筛查在多种染色体异常产前诊断中的临床应用。方法对2006至2007年间我院产前筛查唐氏高风险、18-三体高风险及个别中位数(MOM)明显偏离正常范围但未达到高风险的孕妇共853例进行羊水细胞培养、染色体核型分析。结果经羊水细胞遗传学产前诊断,共检出染色体异常胎儿24例,除6例21-三体和5例18-三体外,还检出其他类型染色体异常13例。结论中孕期母血清生化指标产前筛查结合产前诊断,不仅是检出21-三体、18-三体的一种筛查方法,对其他染色体异常,如性染色体异常、倒位或易位等异常的检出也具有一定的指导意义。筛查高危孕妇或某个指标明显异常者应进一步采取细胞培养、染色体分析等更准确的产前诊断方法确诊,及时发现多种类型的异常核型,有效降低缺陷儿的出生。

Objective ： To analyze and investigate the clinical using of the prenatal serum marker screening in prenatal diagnosis of various chromosome abnormalities. Methods： Amniotic cell culture and chromosome karyotype analysis were performed for 583 pregnant women, who were at high risk of trisomy 21, trisomy 18, or detected obvious abnormal MOM of the serum makers. The data were collected during 2006 and 2007. Results： Totally, 24 chromosome abnormalities were detected by amniocyte prenatal diagnosis, in clude 13 other chromosome abnormalities except 6 trisomy 21 fetuses and 5 trisomy 18 fetuses. Conclusion： The serum marker screening in the second trimester of pregnancy is not only effective for the trisomy syndrome 21 and 18, but also meaningful for other chromosome abnormalities, such as abnormal sexual chromosome, inversion or translocation. Gravid at high risk or with obvious aberration of one or two serum marker MOMs should be provided genetic counseling and further prenatal diagnosis, in order to avoid the birth - defective.