简介:摘要目的分析妊娠中期羊水染色体检查的临床特征及实际意义。方法研究中纳入对象600例胎儿染色体病高危孕妇,对其均行羊膜腔穿刺羊水染色体检查。结果600例孕妇妊娠中期行羊水穿刺检出染色体异常几率为3.2%(19/600),其中数目异常10例(52.6%)、结构异常9例(47.4%);不同的羊水穿刺指征孕妇行临床染色体检查结果存在一定差异,其中平衡易位携带者经羊水穿刺检出染色体异常率最高(47.4%)。结论临床医生接诊存在母体血清筛查阳性、高龄以及超声检查异常等情况的孕妇后,应根据其相关资料综合判断后确定是否行妊娠中期羊水染色体检查,此举对检出胎儿异常几率、降低出生缺陷率均具有重要价值。
简介: [摘要 ] 目的 探讨高龄孕妇进行孕中期羊膜腔穿刺羊水细胞培养染色体核型分析,提高对胎儿畸形的预见性诊断分析结果。方法 随机选取该院 2017年 1月— 2018年 12月收治的 714例高龄孕妇给予羊膜腔穿刺前的检查及超声诊断,行羊膜腔穿刺抽取羊水的孕妇,进行羊水细胞培养,制备染色体标本,分析高龄孕妇羊水胎儿细胞的染色体核型和胎儿染色体异常情况。 结果 该研究选取的 714例高龄孕妇中染色体异常的分类有 21三体综合征、 18三体综合征、性染色体异常和其它的染色体异常。有 23例高龄孕妇的染色体出现异常,检出率为 3.22%; 714例高龄孕妇中 35~ 39岁占 450例,发现胎儿染色体异常例数 9例,检出率为 2..00%为最低; 44~ 46岁高龄孕妇占 31例,发现胎儿染色体异常例数为 3例,检出率为 9.68%为最高。结论 在产前对高龄孕妇进行羊膜腔穿刺羊水细胞染色体培养可以有效的检测胎儿的染色体异常情况,有效的对高龄孕妇分娩畸形胎儿进行预见性的诊断,明显降低新生儿的缺陷率。 [关键词 ] 羊膜腔穿刺术;羊水细胞染色体核型;高龄孕妇;畸形儿;预见性诊断;染色体异常 [Abstract] Objective To investigate the karyotype analysis of amniotic fluid cell culture by amniocentesis in the second trimester of pregnancy, and to improve the predictive diagnosis of fetal malformation. Methods a total of 714 elderly pregnant women admitted to our hospital from January 2017 to December 2018 were randomly selected for amniocentesis and ultrasound diagnosis before amniocentesis. Amniocentesis was performed to extract amniotic fluid from pregnant women. Amniotic fluid cells were cultured and chromosome samples were prepared to analyze the chromosome karyotype and fetal chromosome abnormality of amniotic fluid fetal cells of elderly pregnant women. Results 714 cases of chromosomal abnormalities were classified into 21 trisomy syndrome, 18 trisomy syndrome, sex chromosome abnormality and other chromosomal abnormalities. There are 23 cases of chromosomal abnormalities in the elderly pregnant women, the detection rate is 3.22%; among 714 cases of elderly pregnant women, 450 cases are 35-39 years old, 9 cases of fetal chromosomal abnormalities are found, the detection rate is 2.00%, which is the lowest; 31 cases are 44-46 years old, 3 cases of fetal chromosomal abnormalities are found, the detection rate is 9.68%. Conclusion amniocentesis and amniotic fluid cell chromosome culture can effectively detect the chromosomal abnormalities of the fetus, effectively diagnose the abnormal fetus in the delivery of the elderly pregnant women, and significantly reduce the defect rate of the newborn.
简介:摘要目的探讨产前超声检查与胎儿染色体异常诊断的关系。方法选取中晚期孕妇103例,首先依据系统超声和超声心动图检查结果,将其分为严重异常组76例(A组)和微小异常组27例(B组),然后进行产前侵入性检查,并分析染色体核型,最后对检查结果进行统计学分析。结果分析两组染色体核型得出,严重异常组染色体异常发病率(34.2%),明显高于微小异常组(0%),差异具有统计学意义(P<0.05);对严重异常组染色体异常发病率进行组内比较,超声心动图检查发现先天性心脏病胎儿染色体异常发病率(48.4%),明显高于剩余严重异常的胎儿(24.4%),差异具有统计学意义(P<0.05)。结论产前超声检查有助于诊断胎儿染色体异常,尤其是胎儿先天性心脏病,从而减少异常发育胎儿的出生,为今后进一步有效指导临床预防和治疗提供依据。