不同羊膜腔穿刺适应证患者的染色体异常核型检出情况分析

The Detection Rate of Fetal Chromosomal Abnormalities in Patients With Different Indications of Amniocentesis

目的分析不同羊膜腔穿刺适应证患者的染色体异常核型检出率及其遗传咨询方法。方法选择2009年1月至2013年12月于内蒙古医科大学附属医院行羊膜腔穿刺胎儿染色体检查的523例患者中羊水细胞培养成功的520例患者为研究对象。本研究遵循的程序符合本研究遵循的程序符合内蒙古医科大学附属医院人体试验委员会所制定的伦理学标准,得到该委员会批准,并征得受试对象本人的知情同意,与之签署临床研究知情同意书。分析不同羊膜腔穿刺适应证患者的染色体异常核型检出率。结果 520例羊水细胞培养成功的患者中,异常核型检出率为4.42%(23/520)。高龄妊娠患者染色体异常核型发生率为1.45%(3/206),中孕期母体血清筛查高危患者为3.15%(7/222),胎儿超声结果异常患者为12.72%(7/55),夫妇一方系染色体平衡结构异常患者为66.67%(2/3),无创产前DNA检测示高危为80.00%(4/5),有染色体异常儿生育史患者为0(0/29)。23例检出异常核型胎儿中,染色体非整倍体异常胎儿为19例(82.6%),染色体结构异常为4例(17.4%)。结论目前羊膜腔穿刺染色体异常核型检出率较低。对胎儿进行超声检查和无创产前DNA检测有助于提高羊膜腔穿刺染色体异常核型检出率。

Objective To evaluate the detection rate of fetal chromosomal abnormalities in patients with different indications of amniocentesis and their genetic counseling. Methods From ＇January 2009 and December 2013,a total of 520 pregnant women who underwent amniocentesis in the First Affiliate Hospital of Inner Mongolia University were included in the study. The study protocol was approved by the Ethical Review Board of Investigation in Human Being of First Affiliate Hospital of Inner Mongolia Medical University. Informed consent was obtained from each participants. The detection rates of fetal chromosomal abnormalities in patients with different indications of amniocentesis were analyzed. Results Chromosomal abnormalities were observed in 4. 42% （23/520） of the samples. The detection rates of chromosomal abnormalities for each indication were 1.45% （3/206） in advanced maternal age, 3. 15% （7/222） in the increasing-risk maternal triple-marker screening test, 12.72% （7/55） in the abnormal ultrasound finding, 0 （0/29） for family history of chromosomal abnormality, 80.00% （4/5） for the increasing-risk in the non invasive prenatal testing, 66. 67% （2/3） in one of the parents carrying abnormal chromosome. Conclusions The detection rate of fetal chromosomal abnormalities in amniocentesis is low. The result of ultrasound examination and non-invasive prenatal testing were helpful to enhance that rate.