产前遗传学诊断技术研究进展
摘要
<正>2012年9月发布的《中国出生缺陷防治报告(2012)》中报告,我国出生缺陷率大约为5.6%~([1])。遗传病是引起出生缺陷的重要原因。由于遗传病常常在生命的早期就有所表现,如染色体数目或大片段的结构异常,影响胚胎正常发育,引起胎停育;染色体小片段的结构异常或一些单基因病可能影响不同器官的正常发育和功能,引起宫内影像检查时可见的结构畸形或胎儿生长受限等。一部分疾病通过准确的产前诊断方法能够得以诊断,通过遗传咨询父母有机会选择性生育,从而避免或减少有严重出生缺陷的胎儿出生。这是目前降低出生缺
引文
[1]中国出生缺陷防治报告(2012)》[R/OL].中华人民共和国卫生部,2012-09-12[2019-04-09].http://www.gov.cn/gzdt/2012-09/12/content_2223373.htm
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[4]Stosic M,Levy B,Wapner R.The use of chromosomal microarray analysis in prenatal diagnosis[J].Obstet Gynecol Clin North Am,2018,45(1):55-68.
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[8]Shaffer LG,Rosenfeld JA,Dabell MP,et al.Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound[J].Prenat Diagn,2012,32(10):986-995.
[9]American College of Obstetricians and Gynecologists’Committee on Practice Bulletins-Obstetrics;Committee on Genetics;Society for Maternal-Fetal Medicine.Practice bulletin No.162 summary:prenatal diagnostic testing for genetic disorders[J].Obstet Gynecol,2016,127(5):976-978.
[10]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[J].中华妇产科杂志,2014,49(8):570-572.
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[15]Fan HC,Gu W,Wang J,et al.Non-invasive prenatal measurement of the fetal genome[J].Nature,2012,487(7407):320-324.
[16]Pescia G,Guex N,Iseli C,et al.Cell-free DNA testing of an extended range of chromosomal anomalies:clinical experience with 6,388 consecutive cases[J].Genet Med,2017,19(2):169-175.
[17]Fiorentino F,Bono S,Pizzuti F,et al.The clinical utility of genome-wide non invasive prenatal screening[J].Prenat Diagn,2017,37(6):593-601.
[18]Pertile MD,Halks-Miller M,Flowers N,et al.Rare autosomal trisomies,revealed by maternal plasma DNAsequencing,suggest increased risk of feto-placental disease[J].Sci Translational Med,2017,9(405).pii:eaan1240.
[19]Watson CT,Marques-Bonet T,Sharp AJ,et al.The genetics of microdeletion and microduplication syndromes:an update[J].Annu Rev Genomics Hum Genet,2014,15:215-244.
[20]Liang D,Cram DS,Tan H,et al.Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes[J].Genet Med,2019.
[21]Chitty LS,Mason S,Barrett AN,et al.Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia:next-generation sequencing allows for a safer,more accurate,and comprehensive approach[J].Prenat Diagn,2015,35(7):656-662.
[22]Parks M,Court S,Cleary S,et al.Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage[J].Prenat Diagn 2016,36(4):312-320.
[23]Yang Y,Muzny DM,Reid JG,et al.Clinical whole-exome sequencing for the diagnosis of mendelian disorders[J].NEngl J Med,2013,369(16):1502-1511.
[24]Deciphering Developmental Disorders Study.Largescale discovery of novel genetic causes of developmental disorders[J].Nature,2015,519(7542):223-228.
[25]Chitty LS,Friedman JM,Langlois S.Current controversies in prenatal diagnosis 2:should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?[J].Prenat Diagn,2016,36(1):15-19.
[26]Fu F,Li R,Li Y,et al.Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities[J].Ultrasound Obstet Gynecol,2018,51(4):493-502.
[27]Best S,Wou K,Vora N,et al.Promises,pitfalls and practicalities of prenatal whole exome sequencing[J].Prenat Diagn,2018,38(1):10-19.
[28]ACMG Board of Directors.Points to consider in the clinical application of genomic sequencing[J].Genet Med,2012,14(8):759-761.
[29]Committee on Genetics and the Society for Maternal-Fetal Medicine.Committee opinion No.682:microarrays and next-generation sequencing technology:the use of advanced genetic diagnostic tools in obstetrics and gynecology[J].Obstet Gynecol,2016,128(6):e262-268.
[30]Liang D,Peng Y,Lv W,et al.Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes[J].J Mol Diagn,2014,16(5):519-526.
[31]Dong Z,Zhang J,Hu P,et al.Low-pass whole-genome sequencing in clinical cytogenetics:a validated approach[J].Genet Med,2016,18(9):940-948.
[32]Liang D,Wang Y,Ji X,et al.Clinical application of wholegenome low-coverage next-generation sequencing to detectand characterize balanced chromosomal translocations[J].Clin Genet,2017,91(4):605-610.
[33]Wang J,Chen L,Zhou C,et al.Prospective chromosome analysis of 3429 amniocentesis samples in China using copy number variation sequencing[J].Am J Obstet Gynecol,2018,219(3):287.e1-18.
[2]Oneda B,Rauch A.Microarrays in prenatal diagnosis[J].Best Pract Res Clin Obstet Gynaecol,2017,42:53-63.
[3]Shaffer LG,Dabell MP,Rosenfeld JA,et al.Referral patterns for microarray testing in prenatal diagnosis[J].Prenat Diagn,2012,32(4):344-350.
[4]Stosic M,Levy B,Wapner R.The use of chromosomal microarray analysis in prenatal diagnosis[J].Obstet Gynecol Clin North Am,2018,45(1):55-68.
[5]Tachdjian G,Aboura A,Benkhalifa M,et al.De novo interstitial direct duplication of Xq21.1q25 associated with skewed X-inactivation pattern[J].Am J Med Genet A,2004,131(3):273-280.
[6]Le Caignec C,Boceno M,Saugier-Veber P,et al.Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations[J].JMed Genet,2005,42(2):121-128.
[7]Wapner RJ,Martin CL,Levy B,et al.Chromosomal microarray versus karyotyping for prenatal diagnosis[J].NEngl J Med,2012,367(23):2175-2184.
[8]Shaffer LG,Rosenfeld JA,Dabell MP,et al.Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound[J].Prenat Diagn,2012,32(10):986-995.
[9]American College of Obstetricians and Gynecologists’Committee on Practice Bulletins-Obstetrics;Committee on Genetics;Society for Maternal-Fetal Medicine.Practice bulletin No.162 summary:prenatal diagnostic testing for genetic disorders[J].Obstet Gynecol,2016,127(5):976-978.
[10]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[J].中华妇产科杂志,2014,49(8):570-572.
[11]Sparks AB,Struble CA,Wang ET,et al.Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood:evaluation for trisomy 21 and trisomy 18[J].Am J Obstet Gynecol,2012,206(4):319.e1-9.
[12]Palomaki GE,Kloza EM,O'Brien BM,et al.The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population[J].Genet Med,2017,19(7):778-786.
[13]Bianchi DW,Parker RL,Wentworth J,et al.DNA sequencing versus standard prenatal aneuploidy screening[J].N Engl JMed,2014,370(9):799-808.
[14]Gregg AR,Skotko BG,Benkendorf JL,et al.Noninvasive prenatal screening for fetal aneuploidy,2016 update:a position statement of the American college of medical genetics and genomics[J].Genet Med,2016,18(10):1056-1065.
[15]Fan HC,Gu W,Wang J,et al.Non-invasive prenatal measurement of the fetal genome[J].Nature,2012,487(7407):320-324.
[16]Pescia G,Guex N,Iseli C,et al.Cell-free DNA testing of an extended range of chromosomal anomalies:clinical experience with 6,388 consecutive cases[J].Genet Med,2017,19(2):169-175.
[17]Fiorentino F,Bono S,Pizzuti F,et al.The clinical utility of genome-wide non invasive prenatal screening[J].Prenat Diagn,2017,37(6):593-601.
[18]Pertile MD,Halks-Miller M,Flowers N,et al.Rare autosomal trisomies,revealed by maternal plasma DNAsequencing,suggest increased risk of feto-placental disease[J].Sci Translational Med,2017,9(405).pii:eaan1240.
[19]Watson CT,Marques-Bonet T,Sharp AJ,et al.The genetics of microdeletion and microduplication syndromes:an update[J].Annu Rev Genomics Hum Genet,2014,15:215-244.
[20]Liang D,Cram DS,Tan H,et al.Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes[J].Genet Med,2019.
[21]Chitty LS,Mason S,Barrett AN,et al.Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia:next-generation sequencing allows for a safer,more accurate,and comprehensive approach[J].Prenat Diagn,2015,35(7):656-662.
[22]Parks M,Court S,Cleary S,et al.Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage[J].Prenat Diagn 2016,36(4):312-320.
[23]Yang Y,Muzny DM,Reid JG,et al.Clinical whole-exome sequencing for the diagnosis of mendelian disorders[J].NEngl J Med,2013,369(16):1502-1511.
[24]Deciphering Developmental Disorders Study.Largescale discovery of novel genetic causes of developmental disorders[J].Nature,2015,519(7542):223-228.
[25]Chitty LS,Friedman JM,Langlois S.Current controversies in prenatal diagnosis 2:should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?[J].Prenat Diagn,2016,36(1):15-19.
[26]Fu F,Li R,Li Y,et al.Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities[J].Ultrasound Obstet Gynecol,2018,51(4):493-502.
[27]Best S,Wou K,Vora N,et al.Promises,pitfalls and practicalities of prenatal whole exome sequencing[J].Prenat Diagn,2018,38(1):10-19.
[28]ACMG Board of Directors.Points to consider in the clinical application of genomic sequencing[J].Genet Med,2012,14(8):759-761.
[29]Committee on Genetics and the Society for Maternal-Fetal Medicine.Committee opinion No.682:microarrays and next-generation sequencing technology:the use of advanced genetic diagnostic tools in obstetrics and gynecology[J].Obstet Gynecol,2016,128(6):e262-268.
[30]Liang D,Peng Y,Lv W,et al.Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes[J].J Mol Diagn,2014,16(5):519-526.
[31]Dong Z,Zhang J,Hu P,et al.Low-pass whole-genome sequencing in clinical cytogenetics:a validated approach[J].Genet Med,2016,18(9):940-948.
[32]Liang D,Wang Y,Ji X,et al.Clinical application of wholegenome low-coverage next-generation sequencing to detectand characterize balanced chromosomal translocations[J].Clin Genet,2017,91(4):605-610.
[33]Wang J,Chen L,Zhou C,et al.Prospective chromosome analysis of 3429 amniocentesis samples in China using copy number variation sequencing[J].Am J Obstet Gynecol,2018,219(3):287.e1-18.