1 中华人民共和国卫生行业标准.胎儿常见染色体异常与开放性神经管缺陷的产前筛查与诊断技术标准.第1部分:中孕期母血清学产前筛查.北京:中国标准出版社,2010:1-9. 2 Bernal JE,Briceno I.Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia-Ecuador.Clin Genet,2006,70:188-191. 3 Andrew SL,Cheryl SR.An angel with Down syndrome in a sixteenth century flemish nativity painting.Am J Med Genet,2003,116A:399-405. 4 Kanner L.A history of the care and study of the mentally retarded.Springfield,IL:Charles C.Thomas,1964:6-7,91,100-102. 5 Volpe EP.Is Down Syndrome a modern disease?Perspect Biol Med,1986,29:423-436. 6 刘佳琦,厉传琳.唐氏综合征发生原因的循证医学研究.中国妇幼保健,2011,26:3985-3988. 7 James SJ,Pogribna M,Pogribny IP,et al.Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome.Am J Clin Nutr,1999,70:495-501. 8 柴鸥,侯志敏.亚甲基四氢叶酸还原酶基因 MTHFR 多态性与唐氏综合征风险的相关性研究.河北医药,2020,42:879-885. 9 郝小燕.沧州地区100例唐氏综合征的病因分析.热带医学杂志,2015,15:254-256. 10 Morris JK,De Vigan C,Mutton DE,et al.Risk of a Down syndrome live birth in women 45 years of age and older.Prenat Diagn,2005,25:275-278. 11 田鑫,伦妙栩,等.职业与环境因素对孕唐氏综合征胎儿影响.中国职业医学,2017,44:326-330. 12 Down JL.Observations on an ethnic classification of idiots.1866.Ment Retard.1995,33:54-56. 13 Bush D,Galambos C,Dunbar ID.Pulmonary hypertension in children with Down syndrome.Pediatr Pul,2020:1-9. 14 Lai F,Williams RS.A prospective study of Alzheimer disease in Down syndrome.Arch Neurol,1989,46:849-853. 15 Zhang H,Liu L,Tian J.Molecular mechanisms of congenital heart disease in down syndrome.Genes Dis,2019,6:372-377. 16 Benaceraf BR,Frigoleto FD.Soft tissue nuchal fold in the second trimester fetus:sdandards for normal measurements compared with those in down syndrome.Am J Obstet gynecol,1987,157:1146-1149. 17 Bromley B,Lieberman E,Shipp TD,et al.The genetic sonogram:a method of risk assessment for Down syndrome in the second trimester.J Ultrasound Med,2002,21:1087-1096. 18 Reddy UM,Abuhamad AZ,Levine D,et al.Fetal imaging:executive summary of a joint eunice kennedy shriver national institute of child health and human development,society for maternal- fetal medicine,American Institute of Ultrasound in Medicine,American College of Obstericians and Gynecologists,American College of Radiology,society for pediatric radiology,and society of radiologists in ultrasound fetal imaging workshop.Am J Obstet Gynecol,2014,210:387-397. 19 Merkatz IR,Nitowsky HM,Macri JN,et al.An asociati oil betwen low maternal serum alpha-fetoprotein and fetal chromosomal abnormalities.Am J Obstet Gynecol,1984,148:886-894. 20 Penrose LS.The relative effects of paternal and maternal age in mongolism.J Genet,1993,27:219-224. 21 Cuckle,HS,Wald NJ,Thompson SG.Estimating a woman's risk of having a pregnancy associated with Down's syndrome using her age and serum alphafetoprotein level.Br J Obstet Gynaecol,1987,94:387-402. 22 Doran T,Cadesky K,Wong P,et al.Maternal serum alpha-fetoprotein and fetal autosomaltrisomies.Am J Obstet Gynecol,1986,154,277-281. 23 Bogart MH,Pandian MR,Jones OW.Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities.Prenatal Diag,1987,7:623-630. 24 Macri JN,Kasturi RV,Krantz DA,et al.Maternal serum Down syndrome screening:free beta-protein is a more effective marker than human chorionic gonadotropin.Am J Obstet Gynecol,1990,163:1248-1253. 25 Canick JA,Knight GJ,Palomaki GE,et al.Low second trimester maternal serum unconjugated oestriol in pregnancies with Down's syndrome.Br J Obstet Gynaecol,1988,95:330-333. 26 洪英姿,王元白,陈幼莲.孕中期产前筛查与产前诊断分析.中国妇幼保健,2012,27:1194-1195. 27 Wald NJ,Rodeck C,Hackshaw AK,et al.First and second trimester antenatal screening for Down's syndrome:the results of the Serum,Urine and Ultrasound Screening Study(SURUSS).J Med Screen,2003,10:56-104. 28 Lo YMD,Corbetta N,Chamberlain PF,et al.Presence of fetal DNA in maternal plasma and serum.Lancet,1997,350:485-487. 29 Song YJ,Liu CC,Qi H,et al.Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population.Prenatal Diag.2013,33:700-706. 30 柳爱华,宋奉侠,郝明革等.母血清筛查21-三体、18-三体高风险病例的产前诊断.中国产前诊断杂志(电子版),2012,4:8-10. 31 Grace MR,Hardisty E,Dotters-Katz SK,et al.Cell-free DNA screening:complexities and challenges of clinical implementation.Obstet Gynecol Surv,2016,71:477-487. 32 Jiang FM,Ren JH,Chen F,et al.Noninvasive Fetal Trisomy(NIFTY) test:an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies.BMC Medical Genomics.2012,5:57. 33 Jacob AC,Glenn EP,Edward MK,et al.The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies.Prenatal Diag.2013,33:667-674. 34 Alberry M,Maddocks D,Jones M,et al.Free fetal DNA in maternal plasma in anembryonic pregnancies:confirmation that the origin is the trophoblast.Prenatal Diag,2007,27:415-418. 35 Thurik FF,Soussan AA,Bossers B,et al.Analysis of false-positive results of fetal RHD typing in a national screening program reveals vanishing twins as potential cause for discrepancy.Prenatal Diag.2015,35:754-760. 36 Vidova V,Spacil Z.A review on mass spectrometry-based quantitative proteomics:Targeted and data independent acquisition.Anal Chim Acta,2017,964:7-23. 37 赵晟隆,张为远.蛋白质组学在唐氏综合征产前筛查中的应用.医学综述.2021,27. 38 Shan D,Wang H,Khatri P,et al.The urinary peptidome as a noninvasive biomarker development strategy for prenatal screening of Down's syndrome.OMICS,2019,23:439-447. 39 Gao L,Zhang J,Ran XJ,et al.Urinary proteomics for noninvasive prenatal screening of trisomy 21:new biomarker candidates.OMICS,2021,25:738-744. 40 张金花,余珍,王丽霞,等.传统染色体核型分析及 CMA 在产前诊断中的应用价值比较.川北医学院学报,2021,36:1286-1289. 41 Hao M,Li L,Zhang H,et al.The difference between karyotype analysis and chromosome microarray for mosaicism of aneuploid chromosomes in prenatal diagnosis.J Clin Lab Anal,2020,34:e23514. 42 罗颖花,黄际卫.细胞遗传及分子诊断技术在染色体病检测中的应用进展.中国优生与遗传杂志,2020,28:167-169. 43 王心,尚丽新.产前筛查及诊断相关研究进展.人民军医,2021,64:679-683. 44 染色体微阵列分析技术在产前诊断中的应用协作组.染色体微阵列分析技术在产前诊断中的应用专家共识.中华妇产科杂志,2014,8:570-572. 45 Breman A,Pursley AN,Hixson P,et al.Prenatal chromosomal microarray analysis in a diagnostic laboratory,experience with >1000 cases and review of the literature.Prenatal Diag,2012,32:351-361. 46 Wapner RJ,Martin CL,Levy B,et al.Chromosomal microarray versus karyotyping for prenatal diagnosis.N Engl J Med,2012,367:2175-2184. 47 American College of Obstetricians and Gynecologists Committee on Genetics.Committee Opinion No.581:the use of chromosomal microarray analysis in prenatal diagnosis.Obstet Gynecol,2013,122:1374-1377. 48 杨继青,朱宝生.array-CGH 在产前诊断染色体疾病中的应用.临床检验杂志,2012,30:909-912. 49 杨冬艳,庞丽红.产前诊断检测技术的新进展.中外医学研究,2019,17:183-186.