广东省顺德地区6503例孕中期羊水染色体核型结果分析
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摘要
目的探讨羊水细胞异常核型发生的频率、类型与不同产前诊断指征之间的关系,评估羊水穿刺术诊断染色体疾病的临床价值。方法选取2009年7月～2018年7月在广东医科大学顺德妇女儿童医院产前诊断中心具有产前诊断指征的孕妇6 503例,进行羊水穿刺,胎儿羊水细胞染色体核型分析。结果①6 503例羊水细胞中,检出染色体异常核型358例,异常率5.51%。染色体数目异常264例,其中21三体128例,18三体51例,13三体20例,性染色体数目异常65例;染色体的结构异常66例;嵌合体28例。各产前诊断指征中,染色体异常检出率分别为3.34%,3.15%,61.95%,17.22%,37.14%,5.60%和0.62%,经χ~2检验发现,高龄组与血清学筛查高风险组,高龄组与不良孕产史组,血清学筛查高风险组与不良孕产史组,差异均无统计学意义(χ~2=0.147～2.279,均P>0.05);其余各组之间两两比较,差异均有统计学意义(χ~2=7.411～997.801,均P<0.01)。②2 456例高龄孕妇中,年龄35～39岁组与年龄≥40岁组胎儿染色体异常检出率分别为2.70%和5.63%,两者比较,差异有统计学意义(χ~2=11.059,P<0.01)。③无创产前基因筛查(NIPT)对21三体、18三体和13三体的检测准确度分别为80.28%,75.86%和44.00%,对性染色体异常的检测准确度为55.17%,对其他染色体异常的检测准确度为22.73%。结论①对具有明确产前诊断指征的孕妇行羊膜腔穿刺术,进行羊水细胞染色体核型分析非常重要,可有效地检出染色体异常胎儿,避免其出生,提高人口素质。②高龄孕妇,尤其是≥40岁的高龄孕妇,进行产前诊断非常必要。③NIPT对筛查胎儿染色体疾病准确率较高,但只是筛查手段,不能完全代替羊水细胞核型分析。
Objective To explore the relationship between the frequency and type of abnormal karyotypes in amniotic fluid cells and different prenatal diagnostic indications,and evaluate the clinical value of amniocentesis in the diagnosis of chromosomal diseases.Methods From July 2009 to July 2018,6 503 pregnant women with prenatal diagnosis indications in the Prenatal Diagnosis Center of Shunde Women and Children Hospital of Guangdong Medical University were selected for amniocentesis and karyotype analysis of fetal amniotic fluid cells.Results ①In 6 503 cases of amniotic fluid cells,358 cases of chromosomalabnormalities were detected,and the abnormal rate was 5.51%.There were 264 cases of abnormal chromosome number,of which were 128 cases of 21 trisomy,51 cases of 18 trisomy,20 cases of trisomy 13 and 65 cases of abnormal chromosome number,66 cases of abnormal chromosome structure and 28 caces of chimera.In the prenatal diagnosis indications,the detection rates of chromosomal abnormalities were 3.34%,3.15%,61.95%,17.22%,37.14%,5.60% and 0.62%,respectively.The χ~2 test found that there was no significant difference between the elderly group and the serological screening high risk group,the elderly group and the poor maternal history group,the serological screening high risk group and the poor maternal history group(χ~2=0.147～2.279, all P>0.05).The other groups were compared between the two groups and the difference was statistically significant(χ~2=7.411～997.801,all P<0.01).②Among the 2 456 pregnant women,the detection rates of fetal chromosomal abnormalities in the age group of 35～39 years old and age ≥ 40 years old were 2.70% and 5.63%,respectively,and the difference was statistically significant(χ~2=11.059,P<0.01).③The detection accuracy of NIPT for trisomy 21,trisomy 18 and trisomy 13 were 80.28%,75.86% and 44.00%,respectively.The accuracy of detection for sex chromosome abnormalities was 55.17%,and the accuracy of detection for other chromosomal abnormalities was 22.73%.Conclusion ①Amniocentesis for pregnant women with high risk,and karyotype analysis of amniotic fluid cells can effectively detect chromosomal abnormalities of the fetus,avoid birth and improve the population quality.②Older pregnant women,especially those aged 40 or older,are necessary for prenatal diagnosis.③NIPT has a high accuracy rate for screening fetal chromosomal diseases,but it is only a screening method and cannot completely replace the amniotic fluid karyotype analysis.
Objective To explore the relationship between the frequency and type of abnormal karyotypes in amniotic fluid cells and different prenatal diagnostic indications,and evaluate the clinical value of amniocentesis in the diagnosis of chromosomal diseases.Methods From July 2009 to July 2018,6 503 pregnant women with prenatal diagnosis indications in the Prenatal Diagnosis Center of Shunde Women and Children Hospital of Guangdong Medical University were selected for amniocentesis and karyotype analysis of fetal amniotic fluid cells.Results ①In 6 503 cases of amniotic fluid cells,358 cases of chromosomalabnormalities were detected,and the abnormal rate was 5.51%.There were 264 cases of abnormal chromosome number,of which were 128 cases of 21 trisomy,51 cases of 18 trisomy,20 cases of trisomy 13 and 65 cases of abnormal chromosome number,66 cases of abnormal chromosome structure and 28 caces of chimera.In the prenatal diagnosis indications,the detection rates of chromosomal abnormalities were 3.34%,3.15%,61.95%,17.22%,37.14%,5.60% and 0.62%,respectively.The χ~2 test found that there was no significant difference between the elderly group and the serological screening high risk group,the elderly group and the poor maternal history group,the serological screening high risk group and the poor maternal history group(χ~2=0.147～2.279, all P>0.05).The other groups were compared between the two groups and the difference was statistically significant(χ~2=7.411～997.801,all P<0.01).②Among the 2 456 pregnant women,the detection rates of fetal chromosomal abnormalities in the age group of 35～39 years old and age ≥ 40 years old were 2.70% and 5.63%,respectively,and the difference was statistically significant(χ~2=11.059,P<0.01).③The detection accuracy of NIPT for trisomy 21,trisomy 18 and trisomy 13 were 80.28%,75.86% and 44.00%,respectively.The accuracy of detection for sex chromosome abnormalities was 55.17%,and the accuracy of detection for other chromosomal abnormalities was 22.73%.Conclusion ①Amniocentesis for pregnant women with high risk,and karyotype analysis of amniotic fluid cells can effectively detect chromosomal abnormalities of the fetus,avoid birth and improve the population quality.②Older pregnant women,especially those aged 40 or older,are necessary for prenatal diagnosis.③NIPT has a high accuracy rate for screening fetal chromosomal diseases,but it is only a screening method and cannot completely replace the amniotic fluid karyotype analysis.
引文
[1] 马骞,赵军红,朱若男,等.3 827例孕妇胎儿羊水细胞染色体核型研究[J].中华医学遗传学杂志,2017,34(1):144-146.MA Qian,ZHAO Junhong,ZHU Ruonan,et al.Study on chromosome karyotype of 3 827 pregnant women with amniotic fluid cells[J].Chinese Journal of Medical Genetics,2017,34(1):144-146.
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[6] 宋伟,刘晓巍,山丹,等.6 047例高龄孕妇胎儿染色体核型结果分析[J].实用妇产科杂志,2018,34(3):190-193.SONG Wei,LIU Xiaowei,SHAN Dan,et al.Karyotype analysis of fetal kartotype in 6 047 cases of advenced maternalage[J].Journal of Practical Obstetrics and Gynecology,2018,34(3):190-193.
[7] 张军辉,骆迎春,田艾军,等.超声指标对筛查21三体综合征胎儿的临床意义[J].中国医师杂志,2017,19(4):581-583.ZHANG Junhui,LUO Yingchun,TIAN Aijun,et al.Clinical significance of ultrasound index in screening 21 fetuses with trisomy syndrome[J].Journal of Chinese Physicians,2017,19(4):581-583.
[8] 张军辉,田艾军,骆迎春,等.4 987例孕妇产前细胞遗传学诊断结果与产前诊断指征分析[J].中国优生与遗传杂志,2018,26(5):69-70,44.ZHANG Junhui,TIAN Aijun,LUO Yingchun,et al.Analysis on chromosomal karyotype and prenatal diagnosis indications from 4 987 pregnant women[J].Chinese Journal of Birth Health and Genetics,2018,26(5):69-70,44.
[9] 袁萍.血清及耳积液多项细胞因子与中耳炎的关系[J].海南医学院学报,2014,20(12):1736-1738.YUAN Ping.Relationship between serum,ear fluid various cytokines and tympanitis[J].Journal of Hainan Medical University,2014,20(12):1736-1738.
[10] 何敏,郭华,张海洋,等.唐氏综合征高危孕妇血浆中游离胎儿DNA的Y染色体微缺失筛查[J].现代检验医学杂志,2016,31(2):39-41,45.HE Min,GUO Hua,ZHANG Haiyang,et al.Scree-ning of Y chromosome microdeletions of free fetal DNA in plasma in maternal with high risk Down syndrome[J].J Mod Lab Med,2016,31(2):39-41,45.
[11] 左娟,刘洁,朱瑾,等.无创基因检测(NIPT)对胎儿染色体异常检测的临床应用[J].现代检验医学杂志,2018,33(5):15-18.ZUO Juan,LIU Jie,ZHU Jin,et al.Application of non-invasive prenatal testing in the screening of chromosomal abnormalities[J].J Mod Lab Med,2018,33(5):15-18.
[12] CHEUNG S W,PATEL A,LEUNG T Y.Accurate description of DNA-based noninvasive prenatal screening[J].N Eng J Med,2015,372(17):1675-1677.
[13] GIL M M,QUEZADA M S,REVELLO R,et al.Analysis of cell-free DNA in maternal bloodin screening for fetal aneuploidies:updated meta analysis[J].Ultrasound Obstet Gynecol,2015,45(3):249-266.
[2] 金克勤,程妙鸳,沈双双.2 605例孕中期羊水细胞染色体核型分析[J].中华医学遗传学杂志,2017,34(2):307-309.JIN Keqin,CHENG Miaoyuan,SHEN Shuangshua-ng,et al.Analysis of karyotype of amniotic fluid cells in 2605 cases of pregnancy[J].Chinese Journal of Medical Genetics,2017,34(2):307-309.
[3] 郭芬芬,张建芳,黎昱,等.7 738例羊水染色体核型分析[J].中国妇幼健康研究,2017,28(3):330-332,342.GUO Fenfen,ZHANG Jianfang,LI Yu,et al.Analysis of amniotic fluid chromosome karyotype of 7 738 cases[J].Chinese Jornal of Women and Child Health Research,2017,28(3):330-332,342.
[4] 夏蓓,刘之英,秦利,等.5 622例高龄孕妇妊娠中期羊水细胞遗传学分析[J].中华医学遗传学杂志,2017,34(3):454-455.XIA Bei,LIU Zhiying,QIN Li,et al.Cytogenetic analysis of amniotic fluid in 5 622 elderly women during the second trimester of pregnancy[J].Chinese Journal of Medical Genetics,2017,34(3):454-455.
[5] 陆海燕,郑建丽,陆晶晶,等.孕中期产前筛查与羊水染色体产前诊断结果与分析[J].中国优生与遗传杂志,2016,24(5):55-56.LU Haiyan,ZHENG Jianli,LU Jingjing,et al.Prenatal and postnatal diagnosis and analysis of amniotic fluid chromosome prenatal diagnosis[J].Chinese Journal of Birth Health & Heredity,2016,24(5):55-56.
[6] 宋伟,刘晓巍,山丹,等.6 047例高龄孕妇胎儿染色体核型结果分析[J].实用妇产科杂志,2018,34(3):190-193.SONG Wei,LIU Xiaowei,SHAN Dan,et al.Karyotype analysis of fetal kartotype in 6 047 cases of advenced maternalage[J].Journal of Practical Obstetrics and Gynecology,2018,34(3):190-193.
[7] 张军辉,骆迎春,田艾军,等.超声指标对筛查21三体综合征胎儿的临床意义[J].中国医师杂志,2017,19(4):581-583.ZHANG Junhui,LUO Yingchun,TIAN Aijun,et al.Clinical significance of ultrasound index in screening 21 fetuses with trisomy syndrome[J].Journal of Chinese Physicians,2017,19(4):581-583.
[8] 张军辉,田艾军,骆迎春,等.4 987例孕妇产前细胞遗传学诊断结果与产前诊断指征分析[J].中国优生与遗传杂志,2018,26(5):69-70,44.ZHANG Junhui,TIAN Aijun,LUO Yingchun,et al.Analysis on chromosomal karyotype and prenatal diagnosis indications from 4 987 pregnant women[J].Chinese Journal of Birth Health and Genetics,2018,26(5):69-70,44.
[9] 袁萍.血清及耳积液多项细胞因子与中耳炎的关系[J].海南医学院学报,2014,20(12):1736-1738.YUAN Ping.Relationship between serum,ear fluid various cytokines and tympanitis[J].Journal of Hainan Medical University,2014,20(12):1736-1738.
[10] 何敏,郭华,张海洋,等.唐氏综合征高危孕妇血浆中游离胎儿DNA的Y染色体微缺失筛查[J].现代检验医学杂志,2016,31(2):39-41,45.HE Min,GUO Hua,ZHANG Haiyang,et al.Scree-ning of Y chromosome microdeletions of free fetal DNA in plasma in maternal with high risk Down syndrome[J].J Mod Lab Med,2016,31(2):39-41,45.
[11] 左娟,刘洁,朱瑾,等.无创基因检测(NIPT)对胎儿染色体异常检测的临床应用[J].现代检验医学杂志,2018,33(5):15-18.ZUO Juan,LIU Jie,ZHU Jin,et al.Application of non-invasive prenatal testing in the screening of chromosomal abnormalities[J].J Mod Lab Med,2018,33(5):15-18.
[12] CHEUNG S W,PATEL A,LEUNG T Y.Accurate description of DNA-based noninvasive prenatal screening[J].N Eng J Med,2015,372(17):1675-1677.
[13] GIL M M,QUEZADA M S,REVELLO R,et al.Analysis of cell-free DNA in maternal bloodin screening for fetal aneuploidies:updated meta analysis[J].Ultrasound Obstet Gynecol,2015,45(3):249-266.