二胎政策下羊水染色体检查与出生缺陷防控  

Karyotype analysis of amniotic fluid cells and birth defect prevention under the two-child policy

作　　者：李毅[1] 冯强[1] 司红卫[1] 范晓宇 李昌周[1] 查斌斌[1] 闫立青[1] LI Yi FENG Qiang ,SI Hong-wei ,FAN Xiao-yu,LI Chang-zhou,CHA Bin-bin,YAN Li-qing(Dept. of Reproductive Genetics, Taian Central Hospital, Taian 271000, China)

机构地区：[1]泰山医学院附属泰山医院生殖遗传科,山东泰安271000

出　　处：《泰山医学院学报》2018年第7期726-730,共5页Journal of Taishan Medical College

基　　金：国家自然基金青年基金(31200983)

摘　　要：目的分析羊水细胞染色体检查在二胎政策下降低出生缺陷、促进优生优育的重要意义。方法对培养成功的5012例羊水穿刺病例的临床指征分布情况以及染色体异常情况做全面的回顾性总结分析,并对无创产前检测技术(non-invasive prenatal test,NIPT)在新时期产前筛查中发挥的作用进行分析。结果 5012例羊水穿刺病例中,染色体异常169例,终止妊娠122例。21,18-三体及性染色体依然是最主要的染色体异常。高龄及无创DNA筛查高风险成为三体综合征最主要指征。高龄孕妇中,随着年龄增加,异常检出率明显增加。无创DNA筛查21,18-三体及性染色体异常与羊水穿刺染色体结果符合率分别为92.82%、50%及37.50%,总符合率63.64%。结论孕中期羊水细胞核型分析能及时发现胎儿染色体异常;分子检测与细胞遗传学技术相结合将对减少出生缺陷,保证二胎生育大潮下的优生优育发挥更重要的作用。Objective： To study the significance of karyotype analysis about amniotic fluid cells to promote eugenics and superior nurture and reduce birth defects under the two-child policy. Methods： The distribution of clinical signs and chromosomal abnormalities of 5012 pregnant women with the indications of prenatal diagnosis were summarized and analyzed. And the role of NIPT screening technology in the new era was analyzed. Results： 169 cases were found with abnormal karyotypes and the pregnancy of 122 cases were terminated regretfully. 21,18-tiresomy and sex chromosome are still the most important chromosomal abnormalities. Advanced maternal age and high risk from NIPT screening were the main important indicators of trisomy syndrome. With the increase of age,the incidence of aneuploidy was significantly increased. The recombination rate of 21,18-trisomy and sexchromosome abnormality between high risk from NIPT screening and karyotype analysis about amniotic fluid cells,were 92. 82%,92. 82% and 37. 50% respectively. And the total rate was 63. 64%. Conclusion： Karyotype analysis of amniotic fluid cells in the second trimester can detect fetal chromosomal abnormalities. Molecular detection combined with cytogenetics techniques will play a more important role in reducing birth defects and ensuring eugenic and superior nurture in the birth tide under the two-child policy.

关 键 词：羊水 染色体异常 高龄 NIPT筛查技术 出生缺陷 

分 类 号：R715[医药卫生—妇产科学]