1317例早期流产患者绒毛染色体检测结果分析
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摘要
目的研究早期自然流产绒毛组织中染色体异常的不同类型,及其与患者年龄、流产胎儿性别之间的相关性。方法回顾性分析2013~2017年行早期流产绒毛染色体检查的1 317例样本资料,对所有检测结果进行分类比较、统计分析。结果 1 317个早期流产绒毛样本中,染色体异常700例(53.2%),其中非整倍性重复占70.7%,以三体占比最高(63.7%),尤以16-三体高发。在患者年龄方面,非整倍重复组显著高于未见异常组(P<0.001)。进一步分析非整倍重复组,结果显示,异常染色体≥2条组平均年龄显著高于三体组(P<0.001)。流产绒毛中,常染色体异常男女性别比为1∶1.03;性染色体异常,Turner综合征占比最高(89.2%)。结论染色体异常是早期自然流产的主要因素,本研究揭示了常染色体与性染色体异常的分布情况及其与患者年龄、胎儿性别的相关性,为早期自然流产患者的临床遗传咨询提供理论依据。
Objective:To investigate the different types of chromosomal abnormalities in chorionic villi of early spontaneous abortion and their correlation with age of patients and sex of abortion fetus.Methods:A retrospective analysis was performed on 1 317 samples of early abortion villi from 2013 to 2017,and the results were classified and analyzed statistically.Results:In 1 317 early abortion villi samples,there were 700 cases(53.2%)of chromosomal abnormality,among which aneuploidy duplication accounted for 70.7%,with the highest proportion(63.7%)in trisomy,especially in trisomy of chromosome 16.In the aspect of patient age,the age of aneuploidy duplication group was significantly older than that in no abnormality group(P<0.001).The results of further analysis of the aneuploidy duplication group indicated that the average age of abnormal chromosome≥2 group was significantly higher than trisomy group(P<0.001).In miscarriage villi,the sex ratio was 1∶1.03 in autosomal abnormality,and Turner syndrome accounted for the highest proportion (89.2%) in the sex chromosome abnormality.Conclusions:Chromosomal abnormality is the main factor of early spontaneous abortion.This study reveals the distribution of autosomal and sex chromosomal anomalies and its correlation with age and sex,and provides theoretical basis for clinical genetic counseling of patients with early abortion.
Objective:To investigate the different types of chromosomal abnormalities in chorionic villi of early spontaneous abortion and their correlation with age of patients and sex of abortion fetus.Methods:A retrospective analysis was performed on 1 317 samples of early abortion villi from 2013 to 2017,and the results were classified and analyzed statistically.Results:In 1 317 early abortion villi samples,there were 700 cases(53.2%)of chromosomal abnormality,among which aneuploidy duplication accounted for 70.7%,with the highest proportion(63.7%)in trisomy,especially in trisomy of chromosome 16.In the aspect of patient age,the age of aneuploidy duplication group was significantly older than that in no abnormality group(P<0.001).The results of further analysis of the aneuploidy duplication group indicated that the average age of abnormal chromosome≥2 group was significantly higher than trisomy group(P<0.001).In miscarriage villi,the sex ratio was 1∶1.03 in autosomal abnormality,and Turner syndrome accounted for the highest proportion (89.2%) in the sex chromosome abnormality.Conclusions:Chromosomal abnormality is the main factor of early spontaneous abortion.This study reveals the distribution of autosomal and sex chromosomal anomalies and its correlation with age and sex,and provides theoretical basis for clinical genetic counseling of patients with early abortion.
引文
[1] van den Berg MM,van Maarle MC,van Wely M,et al.Genetics of early miscarriage[J].Biochim Biophys Acta,2012,1822:1951-1959.
[2] Jenderny J.Chromosome aberrations in a large series of spontaneous miscarriages in the German population and review of the literature[J].Mol Cytogenet,2014,7:38.
[3] Wu T,Yin B,Zhu Y,et al.Molecular cytogenetic analysis of early spontaneous abortions conceived from varying assisted reproductive technology procedures[J]. Mol Cytogenet,2016,9:79.
[4] Gardner RJM,Sutherland GR,Shaffer LG.Chromosome abnormalities and genetic counselling[M].4th ed.Oxford:Oxford University Press,2012.
[5] Soler A,Morales C,Mademont-Soler I,et al.Overview of chromosome abnormalities in first trimester miscarriages:a series of 1,011consecutive chorionic villi sample karyotypes[J].Cytogenet Genome Res,2017,152:81-89.
[6] PylypLY, SpynenkoLO, VerhoglyadNV, et al.Chromosomal abnormalities in products of conception of firsttrimester miscarriages detected by conventional cytogenetic analysis:a review of 1 000cases[J].J Assist Reprod Genet,2018,35:265-271.
[7] Choi TY,Lee HM,Park WK,et al.Spontaneous abortion and recurrent miscarriage:a comparison of cytogenetic diagnosis in250cases[J].Obstet Gynecol Sci,2014,57:518-525.
[8] Rodriguez-Purata J,Lee J,Whitehouse M,et al.Embryo selection versus natural selection:how do outcomes of comprehensive chromosome screening of blastocysts compare with the analysis of products of conception from early pregnancy loss(dilation and curettage)among an assisted reproductive technology population?[J].Fertil Steril,2015,104:1460-1466.
[9] Subramaniyam S,Pulijaal VR,Mathew S.Double and multiple chromosomal aneuploidies in spontaneous abortions:a single institutional experience[J].J Hum Reprod Sci,2014,7:262-268.
[10] Wang Y,Cheng Q,Meng L,et al.Clinical application of SNP array analysis in first-trimester pregnancy loss:aprospective study[J].Clin Genet,2017,91:849-858.
[11]陈竺主编.医学遗传学[M].第3版.北京:人民卫生出版社,2015:105-106.
[12] Heffner LJ.Advanced maternal age-how old is too old?[J].N Engl J Med,2004,351:1927-1929.
[13] Grande M,Borrell A,Garcia-Posada R,et al.The effect of maternal age on chromosomal anomaly rate and spectrum in recurrent miscarriage[J]. HumReprod,2012,27:3109-3117.
[14] Dai R,Li L,Zhu H,et al.Effect of maternal age on spontaneous abortion during the first trimester in Northeast China[J]. J Matern Fetal Neonatal Med,2018,31:1824-1829.
[15] Li H,Liu M,Xie M,et al.Submicroscopic chromosomal imbalances contribute to early abortion[J].Mol Cytogenet,2018,11:41.
[16]王珺,肖西峰,李懋,等.自然流产患者绒毛与复发性流产患者植入前遗传学筛查胚胎微阵列比较基因组杂交结果对比分析[J].生殖与避孕,2014,34:714-717.
[2] Jenderny J.Chromosome aberrations in a large series of spontaneous miscarriages in the German population and review of the literature[J].Mol Cytogenet,2014,7:38.
[3] Wu T,Yin B,Zhu Y,et al.Molecular cytogenetic analysis of early spontaneous abortions conceived from varying assisted reproductive technology procedures[J]. Mol Cytogenet,2016,9:79.
[4] Gardner RJM,Sutherland GR,Shaffer LG.Chromosome abnormalities and genetic counselling[M].4th ed.Oxford:Oxford University Press,2012.
[5] Soler A,Morales C,Mademont-Soler I,et al.Overview of chromosome abnormalities in first trimester miscarriages:a series of 1,011consecutive chorionic villi sample karyotypes[J].Cytogenet Genome Res,2017,152:81-89.
[6] PylypLY, SpynenkoLO, VerhoglyadNV, et al.Chromosomal abnormalities in products of conception of firsttrimester miscarriages detected by conventional cytogenetic analysis:a review of 1 000cases[J].J Assist Reprod Genet,2018,35:265-271.
[7] Choi TY,Lee HM,Park WK,et al.Spontaneous abortion and recurrent miscarriage:a comparison of cytogenetic diagnosis in250cases[J].Obstet Gynecol Sci,2014,57:518-525.
[8] Rodriguez-Purata J,Lee J,Whitehouse M,et al.Embryo selection versus natural selection:how do outcomes of comprehensive chromosome screening of blastocysts compare with the analysis of products of conception from early pregnancy loss(dilation and curettage)among an assisted reproductive technology population?[J].Fertil Steril,2015,104:1460-1466.
[9] Subramaniyam S,Pulijaal VR,Mathew S.Double and multiple chromosomal aneuploidies in spontaneous abortions:a single institutional experience[J].J Hum Reprod Sci,2014,7:262-268.
[10] Wang Y,Cheng Q,Meng L,et al.Clinical application of SNP array analysis in first-trimester pregnancy loss:aprospective study[J].Clin Genet,2017,91:849-858.
[11]陈竺主编.医学遗传学[M].第3版.北京:人民卫生出版社,2015:105-106.
[12] Heffner LJ.Advanced maternal age-how old is too old?[J].N Engl J Med,2004,351:1927-1929.
[13] Grande M,Borrell A,Garcia-Posada R,et al.The effect of maternal age on chromosomal anomaly rate and spectrum in recurrent miscarriage[J]. HumReprod,2012,27:3109-3117.
[14] Dai R,Li L,Zhu H,et al.Effect of maternal age on spontaneous abortion during the first trimester in Northeast China[J]. J Matern Fetal Neonatal Med,2018,31:1824-1829.
[15] Li H,Liu M,Xie M,et al.Submicroscopic chromosomal imbalances contribute to early abortion[J].Mol Cytogenet,2018,11:41.
[16]王珺,肖西峰,李懋,等.自然流产患者绒毛与复发性流产患者植入前遗传学筛查胚胎微阵列比较基因组杂交结果对比分析[J].生殖与避孕,2014,34:714-717.
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