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目的：探讨羊水细胞染色体异常核型与各产前诊断之间的关系。方法：466 例高危孕妇行羊膜腔穿刺术后羊水细胞培养及染色体核型分析。结果：异常核型66 例，异常率14.16 %，包括染色体数目异常27 例，三体综合征22 例（21- 三体15 例、18-三体6 例、13-三体1 例），占异常染色体核型的33.33 %，占染色体数目异常的81.48 %；染色体结构异常39 例，主要包括染色体多态性、平衡易位、倒位和衍生等，占染色体异常核型的59.10 %。异常核型检出率中血清学筛查高危组（14.44 %）要高于高龄妊娠组（10.89 %）和有不良孕产史组（11.11 %）（P<0.05）；超声提示胎儿发育异常组（23.26 %）要高于血清筛查高危组（P<0.05）。结论：血清筛查高危和超声提示胎儿发育异常是黑龙江地区最主要的产前诊断指征，异常核型以21- 三体综合征检出率最高。通过对高危孕妇羊水细胞染色体的核型分析可发现部分染色体疾病，从而避免此类出生缺陷儿的出生。

英文摘要:

Objective:To investigate the relationship between abnormal chromosome of amniotic fluid cells and the prenatal diagnosis.Methods:466 cases of high-risk pregnant women underwent amniocentesis were selected as objects. The amniotic fluid cells were cultured and chromosome was analyzed.Results:Abnormal chromosome in 66 cases, the abnormal rate was 14.16 %, including the number of chromosome abnormalities in 27 cases, 22 cases of trisomy syndrome (15 cases, 6 cases and 1 cases of trisomy 21, trisomy 18 and trisomy 13), accounting for 33.33 % of the total abnormal chromosome, 81.48 % of the number abnormality of chromosome; chromosome structural abnormalities in 39 cases, including chromosome polymorphism, translocation, inversion and other derivatives, accounting for abnormal chromosome 59.10 %. The detection rate of abnormal chromosome in serological screening of high risk group(14.44 %) was higher than that of older pregnancy group (10.89 %) and a history of adverse pregnancy group (11.11 %)（P<0.05）; and the detection rate in ultrasound fetal abnormality group (23.26 %) was higher than that of serum screening for high-risk groups（P<0.05）.Conclusion:Serum and ultrasound screening for high-risk fetal abnormalities is the main area of Heilongjiang prenatal diagnosis indications, abnormal chromosome with trisomy 21-syndrome is the highest. The chromosome analysis of amniotic fluid cell of high-risk pregnant women can be found in the chromosome diseases, so as to avoid the child birth defects.

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