Journal of Shandong University (Health Sciences) ›› 2023, Vol. 61 ›› Issue (1): 51-57.doi: 10.6040/j.issn.1671-7554.0.2022.0704

• 临床医学 • Previous Articles    

Analysis of prenatal screening and diagnostic methods in 10,265 cases of advanced maternal age

CI Qianqian1, WU Shengying2, WAN Qiuhua3, MA Yunrong1, ZHAO Jianwen4, ZHANG Jian1   

  1. 1. Prenatal Screening and Diagnosis Center, Jining Maternal and Child Health Family Planning Service Center, Jining 272100, Shandong, China;
    2. Department of Ultrasound, Jining Maternal and Child Health Family Planning Service Center, Jining 272100, Shandong, China;
    3. Department of Laboratory, Jining Maternal and Child Health Family Planning Service Center, Jining 272100, Shandong, China;
    4. Technical Assurance Department, Zhejiang Biosan Biochemical Technologies Co. Ltd, Hangzhou 310000, Zhejiang, China
  • Published:2023-01-10

Abstract: Objective To explore the prenatal screening and diagnostic strategies for advanced pregnancy with different risk factors. Methods From January 2018 to December 2020, clinical data of 10,265women of advanced maternal agetreated in Jining Maternal and Child Health and Family Planning Service Center were retrospectively analyzed. The patients were divided into two groups: advanced age group(n=10,016)and advanced age with high-risk factors group(n=249). The advanced age group was subdivided into 7 groups: 35-year old group(n=2,030), 36-year old group(n=2,077), 37-year old group(n=1,592), 38-year old group(n=1,024), 39-year old group(n=969), 40-year old group(n=792), and >40-year old group(n=1,352). The prenatal screening and diagnostic results were analyzed among the groups. A young age group(n=8,364)was selected as the controls. Results Compared with the young age group(1.67‰, 14/8364), the 38-, 39-, 40- and >40 year-old groups had significantly inreased incidence of chromosomal aneuploidy abnormalities(P<0.001, P=0.012, P<0.001, P<0.001). An additional 36 cases of copy number variation(CNV)were detected by chromosomal microarray analysis(CMA)[8.22%(36/438)]. The incidences of chromosomal aneuploidy and chromosomal CNV were much higher in advanced age with high-risk factors group than in advanced age group(all P<0.001). Conclusion The incidence of fetal chromosomal abnormalities is increased in women of advanced maternal age. A comprehensive clinical assessment of risk factors should be performed to select an individualized prenatal screening and diagnosis strategy.

Key words: Key words: Advanced pregnancy, Prenatal screening and diagnosis, High-risk factors, Chromosomal aneuploidy, Chromosomal copy number variants

CLC Number: 

  • R715.5
[1] 沈浣, 罗旭飞, 吴丹.《中国高龄不孕女性辅助生殖临床实践指南》解读[J].实用妇产科杂志, 2020, 36(5):350-353. SHEN Huan, LUO Xufei, WU Dan. Interpretation of the clinical practice guidelines for assisted reproduction in advanced infertile women in china[J]. Journal of Practical Obstetrics and Gynecology, 2020, 36(5): 350-353.
[2] 赵扬玉, 原鹏波, 陈练. 二孩时代高龄产妇面临的问题[J]. 中国实用妇科与产科杂志,2020, 36(2): 97-100. ZHAO Yangyu, YUAN Pengbo, CHEN Lian. Problems facing the advanced maternal age at the two-child times[J]. Chinese Journal of Practical Gynecology and Obstetrics, 2020, 36(2): 97-100.
[3] Riggs ER, Andersen EF, Cherry AM, et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the american college of medical genetics and genomics(ACMG)and the clinical genome resource(ClinGen)[J]. Genet Med, 2020, 22(2): 245-257.
[4] 余宏盛, 郭红, 沈双双, 等. 1980例高龄孕妇产前行BoBs技术检测的临床分析[J]. 中华妇产科杂志, 2018, 53(2): 111-114. YU Hongsheng, GUO Hong, SHEN Shuangshuang, et al. Clinical analysis of 1980 cases of antenatal BoBs technique testing in elderly pregnant women[J]. Chinese Journal of Obstetrics and Gynecology, 2018, 53(2): 111-114.
[5] Cooley LD, Lebo M, Li MM, et al. American college of medical genetics and genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders[J]. Genet Med, 2013, 15(6): 484-494.
[6] 陈铁峰, 毛倩倩, 鲁莉萍, 等. 羊水细胞染色体核型分析与高龄孕妇年龄因素的相关性 [J]. 中华检验医学杂志, 2016, 39(6): 423-426. CHEN Tiefeng, MAO Qianqian, LU Liping, et al. Relationship between fetal karyotype and age of pregnancy[J]. Chinese Journal of Laboratory Medicine, 2016, 39(6): 423-426.
[7] 侯亚萍, 杨洁霞, 郭芳芳, 等. 广东地区6 668例孕妇无创DNA产前检测结果分析[J]. 中国妇幼保健, 2017, 32(6): 1241-1244. HOU Yaping, YANG Jiexia, GUO Fangfang, et al. Analysis of non-invasive DNA prenatal detection results in 6668 pregnant women in Guangdong region[J]. Maternal and Child Health Care of China, 2017, 32(6): 1241-1244.
[8] Liao C, Yin AH, Peng CF, et al. Noninvasive prenatal diagnosis of commom aneuploidies by semiconductor sequencing [J]. Proc Natl Acad Sci USA, 2014, 111(20): 7415-7420.
[9] Committee Opinion Summary No. 640: Cell-free DNA screening for fetal aneuploidy [J]. Obstet Gynecol, 2015, 126(3):691-692.
[10] Alfirevic Z, Navaratnam K, Mujezinovic F. Amniocentesis and chorionic villus sampling for prenatal diagnosis[J]. Cochrane Database Syst Rev, 2017, 9(9):CD003252. doi: 10.1002/14651858.CD003252.pub2.
[11] Hu P, Liang D, Chen Y, et al. An enrichment method to increase cell-free fetal DNA fraction and significantly reduce false negatives and test failures for non-invasive prenatal screening: a feasibility study [J]. J Transl Med, 2019, 17(1):124. doi: 10.1186/s12967-019-1871-x.
[12] Dang M, Xu H, Zhang J, et al. Inferring fetal fractions from read heterozygosity empowers the noninvasive prenatal screening [J]. Genet Med, 2020, 22(2): 301-308.
[13] 李雅红, 林颖, 孙云, 等. 性染色体异常无创产前筛查回顾性研究[J]. 检验医学与临床, 2016, 13(4): 505-507. LI Yahong, LIN Ying, SUN Yun, et al. A retrospective study of noninvasive prenatal screening for sex chromosome abnormalities[J]. Laboratory Medicine and Clinic, 2016, 13(4): 505-507.
[14] 杨云帆, 王彦林, 高佳琪, 等. 新筛查模式下高龄孕妇产前诊断指征的再评价[J]. 中华医学遗传学杂志, 2020, 37(10): 1057-1060. YANG Yunfan, WANG Yanlin, GAO Jiaqi, et al. Re-evaluation of indications for prenatal diagnosis of advanced pregnant women under the new screening regine[J]. Chinese Journal of Medical Genetics, 2020, 37(10): 1057-1060.
[15] 王游声, 张翠翠, 蔡婵慧, 等. 高龄孕妇年龄与胎儿染色体异常的相关性分析[J]. 中华医学遗传学杂志, 2021, 38(1): 96-98. WANG Yousheng, ZHANG Cuicui, CAI Chanhui, et al. Analysis of the correlation between age and fetal chromosomal abnormalities in older pregnant women[J]. Chinese Journal of Medical Genetics, 2021, 38(1): 96-98.
[16] 马京梅, 潘虹, 付杰, 等. 高危孕妇外周血胎儿游离核酸无创性产前检测的前瞻性研究[J]. 中华医学杂志, 2015, 95(11): 849-852. MA Jingmei, PAN Hong, FU Jie, et al. Prospective study of non-invasive prenatal testing using cell-free DNA in high-risk population[J]. National Medical Journal of China, 2015, 95(11): 849-852.
[17] 叶菀华, 李巧仪, 林洋洋. 无创性产前基因检测在唐氏高危人群中的应用效果[J]. 黑龙江医学, 2015, 39(7): 811-812. YE Wanhua, LI Qiaoyi, LIN Yangyang, et al. Effectiveness of noninvasive prenatal genetic testing in a high-risk group for Downs syndrome[J]. Heilongjiang Medical Journal, 2015, 39(7): 811-812.
[18] 陈芳, 谭美华,许艳文, 等. 10 840例无创产前筛查数据的回顾性分析及挖掘[J]. 中华医学遗传学杂志, 2020, 37(10): 1074-1078. CHEN Fang, TAN Meihua, XU Yanwen, et al. Retrospective analysis and mining of data from 10 840 patients undergoing non-invasive prenatal screening[J]. Chinese Journal of Medical Genetics, 2020, 37(10): 1074-1078.
[19] 戚庆炜, 王和, 边旭明, 等. 染色体微阵列分析技术在产前诊断中的应用专家共识[J]. 中华妇产科杂志, 2014, 49(8): 570-572. QI Qingwei, WANG He, BIAN Xuming, et. Expert consensus on the application of chromosome microarray analysis technology in prenatal diagnosis[J]. Chinese Journal of Obstetrics and Gynecology, 2014, 49(8): 570-572.
[20] 杨舒婷, 赵亚丽, 汤欣欣, 等. 染色体微阵列分析技术在高龄孕妇产前诊断中的应用价值[J]. 中华医学遗传学杂志, 2021, 38(2): 101-107. YANG Shuting, ZHAO Yali, TANG Xinxin, et. Application of chromosome microarray analysis in prenatal diagnosis of pregnant women with advanced age[J]. Chinese Journal of Obstetrics and Gynecology, 2021, 38(2): 101-107.
[21] Cai MY, Lin N, Chen XM, et al. Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers [J]. BMC Med genomics, 2021, 14(1): 19. doi: 10.1186/s12920-021-00870-w.
[22] 张娜, 颜梅珍, 王元白, 等. 高龄孕妇羊水染色体核型分析及拷贝数变异分析[J]. 西南医科大学学报, 2021, 44(2): 144-149. ZHANG Na, YAN Meizhen, WANG Yuanbai, et al. Karyotype and copy number variation analyses of amniotic fluid cells in pregnant women with advanced maternal age[J]. Journal of Southwest Medical University, 2021, 44(2): 144-149.
[23] Wang S, Hassold T, Hunt P, et al. Inefficient crossover maturation underlies elevated aneuploidy in human female meiosis[J]. Cell, 2017, 168(6): 977-989.
[24] 姚妍怡, 张成成, 宋婕萍. 中孕期超声软指标与染色体异常相关分析[J]. 现代妇产科进展, 2021, 30(12): 933-936. YAO Yanyi, ZHANG Chengcheng, SONG Jieping. Analysis of the correlation between ultrasound soft indices and chromosomal abnormalities in midtrimester[J]. Progress in Obstetrics and Gynecology, 2021, 30(12): 933-936.
[25] Du Y, Ren Y, Yan Y, et al. Absent fetal nasal bone in the second trimester and risk of abnormal karyotype in a prescreened population of Chinese women [J]. Acta Obstet Gynecol Scand,2018, 97(2): 180-186.
[26] 赵萍, 宋勇, 崔丽清,等. 超声软指标在胎儿染色体异常筛查中的应用价值[J]. 临床超声医学杂志, 2021, 23(1): 18-22. ZHAO Ping, SONG Yong, CUI Liqing, et al. Application value of the ultrasonic soft indexes in the diagnosis of fetal chromosomal abnormalities[J]. Journal of Clinical Ultrasound in Medicine, 2021, 23(1): 18-22.
[27] 陈英苹, 周琴, 史烨, 等.胎儿超声异常行产前筛查与诊断的初步探讨[J]. 现代妇产科进展, 2021, 30(10): 780-782. CHEN Yingping, ZHOU Qin, SHI Ye, et al. Preliminary discussion of prenatal screening and diagnosis of fetal ultrasound abnormalities[J]. Progress in Obstetrics and Gynecology, 2021, 30(10): 780-782.
[28] Hu T, Tian T, Zhang Z, et al. Prenatal chromosomal microarray analysis in 2466 fetuses with ultrasonographic soft markers: a prospective cohort study?[J]. Am J Obstet Gynecol, 2021, 224(5): 516.e1-516.e16.
[1] LI Yun, ZHONG Wanxia, YAO Ning, HU Shuanggang, LIU Hongmao. Effects of female age on the outcome of preimplantation genetic diagnosis and screening [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2017, 55(1): 60-62.
[2] YU Wenhao, ZHANG Qian, SUN Mei, LI Hongchang, ZHU Yueting, JIANG Wenjie, YAN Junhao. Comparison of the euploidy rate of PGT-A tested embryos between long GnRH agonist and GnRH antagonist protocols [J]. Journal of Shandong University (Health Sciences), 2023, 61(1): 45-50.
[3] . Improvement and application of comparative genomic hybridization in prenatal diagnosis [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2009, 47(7): 89-92.
Viewed
Full text


Abstract

Cited

  Shared   
  Discussed   
No Suggested Reading articles found!