目的 分析无创产前基因检测(NIPT)在胎儿染色体非整倍体疾病诊断中的检出效率及临床应用价值。方法 选取2016年4月—2018年3月在我院接受无创产前基因检测的3 759例孕妇作为研究对象,利用二代测序AR550平台结合生物信息学进行无创产前基因检测,NIPT 的检测范围包括21、18、13 及性染色体非整倍体。对 NIPT 高风险的孕妇,建议行羊水或脐血穿刺染色体核型分析,比较两者结果的一致性,并随访妊娠结局。结果 3759例孕妇中NIPT提示高风险27例,阳性率为0.71%。其中24例孕妇行染色体核型分析,确诊为 21-三体14例、18-三体1例、13-三体1例和性染色体数目异常4例,阳性预测值分别为100%、50%、100%和66.7%。其中NT增厚中无创孕妇99例,检出高风险为5例,检出率为5.05%（5/99）,明显高于总体检出率。结论 NIPT 对 21-三体和 18-三体具有较高的敏感性和特异性,能提高产前筛查和诊断效率,具有较好的临床应用价值.

Objective To analyze the efficiency and clinical value of noninvasive prenatal gene test (NIPT) in the diagnosis of fetal chromosomal aneuploidy. Methods From April 2016 to March 2018, 3 759 pregnant women who underwent noninvasive prenatal gene testing in our hospital were selected as subjects. The second generation sequencing AR550 platform combined with bioinformatics was used for noninvasive prenatal gene testing. The NIPT detection ranged from 21, 18, 13 to sex chromosome aneuploidy. For pregnant women at high risk of NIPT, amniotic fluid or umbilical cord blood puncture karyotype analysis was recommended to compare the consistency of the two results, and follow-up pregnancy outcomes. Results Among 3 759 pregnant women, NIPT showed 27 cases of high risk, with a positive rate of 0.71%. Twenty-four pregnant women were diagnosed as 21-trisomy in 14 cases, 18-trisomy in 1 case, 13-trisomy in 1 case and abnormal sex chromosome number in 4 cases. The positive predictive values were 100%, 50%, 100% and 66.7% respectively. Among them, 99 cases were non-invasive pregnant women with NT thickening, and 5 cases were at high risk of detection. The detection rate was 5.05% (5/99), which was higher than the overall detection rate. Conclusion NIPT has high sensitivity and specificity to 21-trisomy and 18-trisomy, can improve the efficiency of prenatal screening and diagnosis, and has good clinical application value.

目的 通过对不良孕产史(如流产、死胎、胎儿畸形等)的夫妇染色体核型分析,探讨不良孕产史与染色体异常之间的关系,为再次妊娠提供产前咨询。方法 对1373对有不良孕产史的夫妇,抽取静脉血,经淋巴细胞培养、制备染色体及G显带分析。结果 在1373对(2746例)患者中检出异常核型100例,异常率为3.64%;其中染色体相互易位45例、罗伯逊易位15例、染色体臂间倒位39 例、及X性染色体长臂部分丢失1例,分别占异常染色体的42.86%、15.31%、40.82%、1.02%。结论 染色体异常是导致流产、死胎、胎儿畸形等疾病的重要原因之一,有不良孕产史的夫妇应常规进行染色体核型分析,染色体核型异常的夫妇再次妊娠时应进行产前诊断以降低染色体异常患儿的出生率。

Objective To explore the relationship between the histories of abnormal pregnancy and chromosomal abnormality by analyzing the chromosomal karyotype in 1373 couples with histories of abnormal pregnancy(such as abortion, stillbirth and fetal malformation and so on)in order to provide genetic consultation for secondary pregnancy. Methods The venousblood samples of 1373 couples with the histories of abnormal pregnancy were obtained, and then the lymphocytes were cultured, the chromosome was prepared,G-show band was analyzed. Results Among 1373 couples(2746 cases), there were 100 cases were found with abnormal karyotype, the abnormal rate was 3.64%. There were 45 cases with reciprocal translocation, 15 cases with Robertsonian translocation, 39 cases with inversion and 1 case with loss deletion Xq chromosomal. Conclusion Chromosomal abnormality is an important reason to lead to some diseases such as abortion、stillbirth and fetal malformation and so on, the couples with histories of abnormal pregnancy should analyze the chromosomal karyotype. The couples with chromosomal abnormality who get secondary pregnancy should have prenatal diagnosis to reduce the birthrate of infants with chromosomal abnormality.