扬州地区993例妊娠中期羊水染色体核型结果及临床分析
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摘要
目的通过分析993例接受羊水穿刺孕妇的产前指征及羊水细胞核型,探讨并总结两者之间关系,为产前诊断提供临床依据。方法常规培养羊水细胞,制片后G显带,并对其染色体进行核型分析。结果 993例患者的构成中,占最高比例的为高龄人群(34.74%),其次为血清学产前筛查中高风险人群(33.23%);核型方面,异常核型检出率最高的为无创验证(42.11%),其次为B超指标异常(14.29%),两项及以上指征的核型异常率为14%;本研究中共检出非多态性核型(包括染色体数目异常、结构异常及嵌合体)37例,占受检总人数的3.73%;检出多态性核型52例,占受检总人数的5.24%。两者共89例,染色体核型异常率为8.96%。结论染色体核型异常与羊水穿刺指征有一定的关系。对产前诊断具备高危指征的孕妇进行羊水穿刺,可以科学合理的指导孕妇妊娠结局。
Objective:The aims of this study were to demonstrate the clinical and cytogenetic results of amniocentesis cases in Yangzhou area,to compare the incidence of different kinds of chromosomal abnormalities,and to study the association between the detection rate of chromosomal abnormalities and different indications for prenatal diagnosis. Methods:Amniotic fluid samples from all patients were collected for routine cytogenetic analysis. G-banding was performed and karyotype analysis under microscope were carried out. Results:Among 993 cases,The most common indication for amniocentesis was advanced maternal age(34.74%),followed by abnormal maternal serum-screening test(33.23%). Among 4 879 cases,Among the cases with abnormal karyotypes,the proportions of cases with high-risk indications were 42.11%(NIPT verification veried high risk of prenatal screening),14.29%(abnormal ultrasonic markers),14% of the cases had more than two indications. In this study,37 cases were found with non-chromosomal polymorphic variants(include numerical chromosomal abnormalities and structural chromosomal abnormalities and chromosomal mosaicism);the abnormal rate was 3.73%;52 cases were found with chromosomal polymorphic variants,the abnormal rate was 5.24%;Abnormal karyotypes of amniotic fluid cells were detected in 89 cases,the positive detection rate was 8.96%. Conclusion:The frequency and proportion of abnormal karyotypes varied substantially across different maternal amniocentesis indications. Knowing the origin and type of chromosomal abnormality would help determine termination or continuation of the pregnancy.
Objective:The aims of this study were to demonstrate the clinical and cytogenetic results of amniocentesis cases in Yangzhou area,to compare the incidence of different kinds of chromosomal abnormalities,and to study the association between the detection rate of chromosomal abnormalities and different indications for prenatal diagnosis. Methods:Amniotic fluid samples from all patients were collected for routine cytogenetic analysis. G-banding was performed and karyotype analysis under microscope were carried out. Results:Among 993 cases,The most common indication for amniocentesis was advanced maternal age(34.74%),followed by abnormal maternal serum-screening test(33.23%). Among 4 879 cases,Among the cases with abnormal karyotypes,the proportions of cases with high-risk indications were 42.11%(NIPT verification veried high risk of prenatal screening),14.29%(abnormal ultrasonic markers),14% of the cases had more than two indications. In this study,37 cases were found with non-chromosomal polymorphic variants(include numerical chromosomal abnormalities and structural chromosomal abnormalities and chromosomal mosaicism);the abnormal rate was 3.73%;52 cases were found with chromosomal polymorphic variants,the abnormal rate was 5.24%;Abnormal karyotypes of amniotic fluid cells were detected in 89 cases,the positive detection rate was 8.96%. Conclusion:The frequency and proportion of abnormal karyotypes varied substantially across different maternal amniocentesis indications. Knowing the origin and type of chromosomal abnormality would help determine termination or continuation of the pregnancy.
引文
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[16]张素华,等.扬州地区5292例不良孕产史人群的细胞遗传学研究[J].中国优生与遗传杂志,2017,25(7):54-56,96.
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[20]Hsu IY,Perils TE.United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis[J].Prenat Diagn,1984,4:97-130.
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[22]Shaw-Smith C,Rendon R,Rickman L,et al.Microarray based comparative genomic hybridisation(array-CGH)detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features[J].J Med Genet,2004,41:241-248.
[2]Willatt L,Morgan SM,Shaffer LG,et al.ISCN 2009 an international system for human cytogenetic nomenclature[J].Human Genetics,2009,126(4):603-604.
[3]Tseng JJ,et al.Detection of chromosome aberrations in the second trimester using genetic amniocentesis:experience during1995-2004[J].Taiwan J Obstet Gynecol,2006,45:39-41.
[4]Han SH,An JW,Jeong GY,et al.Clinical and cytogenetic finding on 31,615 mid-trimester amniocenteses[J].Korean J Lab Med,2008,28:378-385.
[5]N.An,L.L.Li,R.X.Wang,et al.Clinical and cytogenetic results of a series of amniocentesis cases from Northeast China:a report of 2500 cases[J],Genetics and Molecular Research,2015,14(4):15660-15667.
[6]Benn P,Borell A,Chiu R,et al.Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis[J].Prenat.Diagn,2013,33:622-629.
[7]王昕,王威,张泽,等.北京地区2116例羊水细胞染色体核型分析.中国优生与遗传杂志,2016,24(7):38-39.
[8]王卫红,卢焰梅,柳钐.长沙地区1955例羊水细胞染色体产前诊断[J].中国优生与遗传杂志,2017,25(1):50-51.
[9]顾水琴,张卫华,金玉霞.1635例羊水细胞染色体核型分析及高危因素分析[J].中国优生与遗传杂志,2016,24(11):7,60-61.
[10]Neagos D,Cretu R,Sfetea RC,er al.The importance of screening and prenatal diagnosis in the identification of the numerical chromosomal abnormalities[J].Maedica,2011,6:179-184.
[11]Crandall BF,Sparkes RS.Prenatal diagnosis of genetic disorders by amniocentesis[J].Calif Med,1973,119:1-6.
[12]Simpson NE,Dallaire L,Miller JR,et al.Prenatal diagnosis of genetic disease in Canada:report of a collaborative study[J].Can.Med.Assoc.J.1976,23:739-748.
[13]Karaoguz MY,Bal F,Yakut T,et al.Cytogenetic results of amniocentesis materials:incidence of abnormal karyotypes in the Turkish collaborative study[J].Genet Couns,2006,17:219-230.
[14]Cerrillo Hinojosa M,Yerena de Vega MC,Gonzalez Panzzi ME,et al.Genetic amniocentesis in high-risk populations.Experience in3081 cases[J].Ginecol Obstet Mex,2009,77:173-182.
[15]郭彩琴,等.181例羊水染色体异常的产前诊断结果分析与遗传咨询.中国妇幼保健,2015,30(35):6275-6280.
[16]张素华,等.扬州地区5292例不良孕产史人群的细胞遗传学研究[J].中国优生与遗传杂志,2017,25(7):54-56,96.
[17]Murat Kara,Askin Sen,Esin Sakall?Cetin,et al.Chromosomal Translocation t(10;19)(q11.2;q13.4)in an Infertile Male[J].Eurasian J Med,2014,46(3):220-223.
[18]陆国辉.产前遗传病诊断[M].第1版.广州:广东科技出版社,2002.110.
[19]赵欣荣,吴怡,韩,旭,等.产前诊断中羊水细胞染色体嵌合体的发现与处理[J].中国优生与遗传杂志,2014,22(5):66-67,76.
[20]Hsu IY,Perils TE.United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis[J].Prenat Diagn,1984,4:97-130.
[21]Madon PF,Athalye AS,Parikh FR.Polymorphic variants on chromosomes probably play a significant role in infertility[J].Reprod Biomed,2005,11:726-732.
[22]Shaw-Smith C,Rendon R,Rickman L,et al.Microarray based comparative genomic hybridisation(array-CGH)detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features[J].J Med Genet,2004,41:241-248.