应用FISH技术快速诊断512例稽留流产者绒毛组织染色体数目异常
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摘要
目的探讨荧光原位杂交(fluorescence in situ hybridization,FISH)技术在快速检测稽留流产者绒毛组织染色体数目异常中的价值。方法采用13,16,18,21,22,X和Y染色体特异性DNA探针,对512例稽留流产者绒毛组织进行FISH检测,同时了解稽留流产者绒毛染色体异常情况及其与患者年龄和流产次数的差异。结果 512例标本FISH检测全部成功,绒毛染色体数目异常231例(45.12%)。其中24例13-三体、68例16-三体、11例18-三体、16例21-三体、50例22-三体、15例X单体、31例三倍体、11例四倍体和5例其他异常嵌合情况。孕妇既往自然流产次数、孕妇年龄与染色体数目异常无明显关系(P>0.05)。结论染色体数目异常是导致稽留流产的重要原因,FISH技术可以快速检测流产绒毛组织染色体异常,为病因诊断和再生育的优生指导提供依据。
Objective:To discuss the value of fluorescence in situ hybridization(FISH)technique in the rapid detection on patients with missed abortion and abnormal chromosome number of chorea tissue. Methods:The chorea tissue of 512 patients with missed abortion were detected by Using DNA probe specific for chromosome specific of 13,16,18,21,22,X and Y. Meanwhile,we have known the condition of patients with missed abortion and abnormal chromosome,and its difference between patient′s age and abortion times. Results:There were 512 specimens were successfully tested by FISH,while there were 231 cases with abnormal villus and chromosome numbers(45.12%). However,there were 24 cases with 13 trisomy,68 cases with 16 trisomy,11 cases with 18 trisomy,16 cases with 21 trisomy,50 cases with 22 trisomy,15 cases with monosome X,31 cases with triploid,11 cases with tetraploid and 5 cases of other abnormal chimeric. There was no significant relationship among the times of spontaneous abortion,pregnant age and abnormal chromosome numbers(P>0.05). Conclusion:The abnormal chromosome number is an important reason for the missed abortion. FISH technique can rapidly detect the abnormal chromosome number of chorea tissue,which can provide the basis for the etiological diagnosis and the eugenic guidance for reproduction.
Objective:To discuss the value of fluorescence in situ hybridization(FISH)technique in the rapid detection on patients with missed abortion and abnormal chromosome number of chorea tissue. Methods:The chorea tissue of 512 patients with missed abortion were detected by Using DNA probe specific for chromosome specific of 13,16,18,21,22,X and Y. Meanwhile,we have known the condition of patients with missed abortion and abnormal chromosome,and its difference between patient′s age and abortion times. Results:There were 512 specimens were successfully tested by FISH,while there were 231 cases with abnormal villus and chromosome numbers(45.12%). However,there were 24 cases with 13 trisomy,68 cases with 16 trisomy,11 cases with 18 trisomy,16 cases with 21 trisomy,50 cases with 22 trisomy,15 cases with monosome X,31 cases with triploid,11 cases with tetraploid and 5 cases of other abnormal chimeric. There was no significant relationship among the times of spontaneous abortion,pregnant age and abnormal chromosome numbers(P>0.05). Conclusion:The abnormal chromosome number is an important reason for the missed abortion. FISH technique can rapidly detect the abnormal chromosome number of chorea tissue,which can provide the basis for the etiological diagnosis and the eugenic guidance for reproduction.
引文
[1]乐杰,谢幸,林仲秋,等.妇产科学[M].第7版.北京:人民卫生出版社,2008.
[2]Bryndorf T,Lundsteen C,Lamb A,et al.Rapid prenatal diagnosis of chromosome aneuploidies by interphase fluorescence in situ hybridization:a one-year clinical experience with high-risk and urgent fetal and postnatal samples[J].Acta Obstet Gynecol Scand,2000,79(1):8-14.
[3]王容,凡伟.稽留流产临床相关因素的研究进展[J].中国妇幼保健,2013,28(8):1366-1368.
[4]王萍燕,张欣,郑海燕,等.荧光原位杂交技术检测176例稽留流产绒毛组织染色体数目异常[J].中华医学遗传学杂志,2013,30(4):484-486.
[5]Kontomanolis EN,Lambropoulou M,Georgiadis A,et al.The challenging trisomy 16:a case report[J].Clin Exp Obstet Gynecol,2012,39(3):412-413.
[6]何天文,赵辉,卢建,等.应用FISH技术快速诊断607例早期自然流产绒毛染色体数目异常[J].中华临床医师杂志(电子版),2014,(3):562-566.
[7]李阳洋.自然流产绒毛染色体核型分析的研究现状[J].实用妇产科杂志,2012,28(6):431-434.
[8]Astner A SE,Caliebe A JW,Gembruch U.Sonographically detected fetal and placental abnormalities associated with trisomy16 confined to the placenta.A case report and review of the literature[J].Prenat Diagn,1998,18(12):1308-1315.
[9]Choolani M,Ho SS,Razvi K,et al.Fast FISH:technique for ultrarapid fluorescence in situ hybridization on uncultured amniocytes yielding results within 2 h of amniocentesis[J].Mol Hum Reprod,2007,13(6):355-359.
[10]Ballarati L RMP,Bedeschi MF.Cytogenetic,FISH and arrayCGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient[J].Eur J Med Genet,2009,52(4):218-223.
[2]Bryndorf T,Lundsteen C,Lamb A,et al.Rapid prenatal diagnosis of chromosome aneuploidies by interphase fluorescence in situ hybridization:a one-year clinical experience with high-risk and urgent fetal and postnatal samples[J].Acta Obstet Gynecol Scand,2000,79(1):8-14.
[3]王容,凡伟.稽留流产临床相关因素的研究进展[J].中国妇幼保健,2013,28(8):1366-1368.
[4]王萍燕,张欣,郑海燕,等.荧光原位杂交技术检测176例稽留流产绒毛组织染色体数目异常[J].中华医学遗传学杂志,2013,30(4):484-486.
[5]Kontomanolis EN,Lambropoulou M,Georgiadis A,et al.The challenging trisomy 16:a case report[J].Clin Exp Obstet Gynecol,2012,39(3):412-413.
[6]何天文,赵辉,卢建,等.应用FISH技术快速诊断607例早期自然流产绒毛染色体数目异常[J].中华临床医师杂志(电子版),2014,(3):562-566.
[7]李阳洋.自然流产绒毛染色体核型分析的研究现状[J].实用妇产科杂志,2012,28(6):431-434.
[8]Astner A SE,Caliebe A JW,Gembruch U.Sonographically detected fetal and placental abnormalities associated with trisomy16 confined to the placenta.A case report and review of the literature[J].Prenat Diagn,1998,18(12):1308-1315.
[9]Choolani M,Ho SS,Razvi K,et al.Fast FISH:technique for ultrarapid fluorescence in situ hybridization on uncultured amniocytes yielding results within 2 h of amniocentesis[J].Mol Hum Reprod,2007,13(6):355-359.
[10]Ballarati L RMP,Bedeschi MF.Cytogenetic,FISH and arrayCGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient[J].Eur J Med Genet,2009,52(4):218-223.