绒毛染色体核型分析在产前诊断及自然流产中的临床应用
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摘要
目的绒毛细胞培养及其核型分析在产前诊断及自然流产病因的应用。方法采用绒毛细胞培养分别对符合产前诊断指征的150例孕妇由B超介导下经腹壁穿刺术留取绒毛及早期胚胎停育的620例患者留取绒毛,进行细胞培养、染色体制备、核型分析及结果比较。结果 (1)产前绒毛培养成功率(95.3%)高于流产胚胎绒毛细胞培养成功率(89.4%),流产胚胎绒毛染色体异常发生率58.3%,产前绒毛染色体异常发生率10.6%,(2)早期自然流产胚胎异常核型发生率为56.3%(312/554),数目异常和结构异常分别占异常核型的96.5%,3.5%,数目异常主要为三体(51.9%),以16-三体为高发、其次为单体(17.9%)和多倍体(15.1%)。(3)早期自然流产孕妇中,年龄≥35岁者的胚胎异常核型发生率明显高于年龄<35岁,有明显差异(P<0.01);(4)自然流产病例中,女性胚胎占61.6%(341/554),男性胚胎占38.4%(213/554),两组染色体异常的发生率分别为45.7%和63.6%,有明显差异(P<0.01)。结论绒毛细胞培养检测染色体的方法,同时适用产前诊断绒毛和流产胚胎绒毛。
Objective:To study the application of villus cell culture and karyotype analysis in prenatal diagnosis and etiology of spontaneous abortion. Methods:Villus cells were cultured from 150 pregnant women who met the prenatal diagnosis criteria,620 patients who underwent abdominal wall puncture under the guidance of B-mode ultrasound and early embryo abortion. Cell culture,chromosome preparation,karyotype analysis and results were compared. Results:(1)The success rate of villus culture before delivery(95.3%)was higher than that of villus cell culture of abortion embryos(89.4%),the incidence of villus chromosome abnormality of abortion embryos was 58.3%,the incidence of villus chromosome abnormality before delivery was 10.6%;(2)The incidence of abnormal karyotype of early spontaneous abortion embryos was 56.3%(312/554),and the number and structure abnormalities accounted for 96.5% and 3.5% of abnormal karyotypes,respectively. The number of abnormalities was mainly trisomy(51.9%),followed by trisomy 16(17.9%)and polyploid(15.1%);(3)Among pregnant women with early spontaneous abortion,the incidence of abnormal karyotype of embryos in those aged over 35 years was significantly higher than that in those aged less than 35 years(P<0.01);(4)In cases of spontaneous abortion,61.6%(341/554)were female embryos and 38.4%(213/554)were male embryos. The incidence of chromosome abnormalities in the two groups was 45.7% and 63.6%,respectively,with significant difference(P<0.01). Conclusion:The method of chromosome detection by villous cell culture is suitable for prenatal diagnosis of villi and abortive embryonic villi.
Objective:To study the application of villus cell culture and karyotype analysis in prenatal diagnosis and etiology of spontaneous abortion. Methods:Villus cells were cultured from 150 pregnant women who met the prenatal diagnosis criteria,620 patients who underwent abdominal wall puncture under the guidance of B-mode ultrasound and early embryo abortion. Cell culture,chromosome preparation,karyotype analysis and results were compared. Results:(1)The success rate of villus culture before delivery(95.3%)was higher than that of villus cell culture of abortion embryos(89.4%),the incidence of villus chromosome abnormality of abortion embryos was 58.3%,the incidence of villus chromosome abnormality before delivery was 10.6%;(2)The incidence of abnormal karyotype of early spontaneous abortion embryos was 56.3%(312/554),and the number and structure abnormalities accounted for 96.5% and 3.5% of abnormal karyotypes,respectively. The number of abnormalities was mainly trisomy(51.9%),followed by trisomy 16(17.9%)and polyploid(15.1%);(3)Among pregnant women with early spontaneous abortion,the incidence of abnormal karyotype of embryos in those aged over 35 years was significantly higher than that in those aged less than 35 years(P<0.01);(4)In cases of spontaneous abortion,61.6%(341/554)were female embryos and 38.4%(213/554)were male embryos. The incidence of chromosome abnormalities in the two groups was 45.7% and 63.6%,respectively,with significant difference(P<0.01). Conclusion:The method of chromosome detection by villous cell culture is suitable for prenatal diagnosis of villi and abortive embryonic villi.
引文
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[6]郭芬芬,徐盈,陈比良,等.934例绒毛染色体核型分析[J].中国产前诊断杂志(电子版),2016,8(1):23-26.
[7]Steuerwald N,Cohen J,Herrera RJ,et al.Association between spindle assembly checkpointexpression and maternalage in human oocytes[J].MolHum Reprod,2001,7(1):49-55.
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[9]Lebedev I.Molecularcy to genetics of recurrent missedabortions[J].Indian J Med Res,2006,124(1):9-10.
[2]张强,周元圆,费冬梅,等.南宁地区313例绒毛细胞染色体核型分析[J].中国优生与遗传杂志,2012,20(10):45-46+60.
[3]刘海波,等.229例流产绒毛染色体核型分析及两种长期培养法比较[J].现代生物医学进展,2014,28(3):5410-5411.
[4]胡舜妍,廖灿,潘敏,等.绒毛细胞长期培养法在产前诊断及早孕和早中孕期自然流产病因检测中的应用[J].中国优生与遗传杂志,2010,18(7):35-36.
[5]吕杰忠,莫晓珊,陈颖,等.1713例早期自然流产胚胎的染色体核型分析[J].中华医学遗传学杂志,2016,(33)4:DOI:10.3760/cma.j.issn.1003-9406.2016.04.035
[6]郭芬芬,徐盈,陈比良,等.934例绒毛染色体核型分析[J].中国产前诊断杂志(电子版),2016,8(1):23-26.
[7]Steuerwald N,Cohen J,Herrera RJ,et al.Association between spindle assembly checkpointexpression and maternalage in human oocytes[J].MolHum Reprod,2001,7(1):49-55.
[8]Homer HA.Mad2 and spindleassembly check point function during meiosis Iinmammalian oocytes[J].Histol Histopathol,2006,21(8):873-886.
[9]Lebedev I.Molecularcy to genetics of recurrent missedabortions[J].Indian J Med Res,2006,124(1):9-10.