遗传性疾病史女性孕前咨询要点
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摘要
随着人类对遗传性疾病认识的加深以及检测技术的快速发展,越来越多的有遗传病史的家庭可以通过产前诊断或者植入前诊断的方式获得健康后代。为了更加准确地提供相关咨询信息,遗传性疾病的诊断与遗传咨询已经成为产科医生必须掌握的技能之一。详细询问病史后利用遗传学基本知识与相应的检测技术,通过对患者及其家系成员实施遗传检测与咨询,寻找导致疾病表型的染色体或基因问题,从而为孕前咨询和获得健康后代提供确诊及预防的依据亦变得尤为重要。文章对有遗传性疾病史的女性如何进行孕前咨询进行阐述。
With the further understanding of hereditary diseases and the rapid development of detecting techniques,more families with a history of genetic diseases could obtain healthy offspring through prenatal diagnosis or preimplantation genetic diagnosis.In order to provide relevant counseling information,the diagnosis and genetic counseling of hereditary diseases have become one of the skills that obstetricians must master.After asking about medical history,through the genetic detecting and genetic counseling in the patients and their family members and by using the basic knowledge of genetics and the corresponding detecting techniques try to find out the chromosomes or genes problems leading to disease phenotype.This becomes very important in order to provide the evidence for diagnosis and prevention in pre-pregnancy counseling and obtaining healthy offsprings.This article will discuss how to perform pre-pregnancy counseling in those families with a history of genetic disease.
With the further understanding of hereditary diseases and the rapid development of detecting techniques,more families with a history of genetic diseases could obtain healthy offspring through prenatal diagnosis or preimplantation genetic diagnosis.In order to provide relevant counseling information,the diagnosis and genetic counseling of hereditary diseases have become one of the skills that obstetricians must master.After asking about medical history,through the genetic detecting and genetic counseling in the patients and their family members and by using the basic knowledge of genetics and the corresponding detecting techniques try to find out the chromosomes or genes problems leading to disease phenotype.This becomes very important in order to provide the evidence for diagnosis and prevention in pre-pregnancy counseling and obtaining healthy offsprings.This article will discuss how to perform pre-pregnancy counseling in those families with a history of genetic disease.
引文
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[8]郝虎,石聪聪,吴鹰军,等.基于目的基因捕获的高通量测序技术在遗传代谢病诊断中的应用[J].中华实用儿科临床杂志,2015,30(22):1721-1724.
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[11]Veltman JA,Brunner HG.De novo mutations in human genetic disease[J].Nat Rev Genet,2012,13(8):565-575.
[12]韦春莲,陈颖,徐瑛蕾,等.TGF-β1基因多态性与妊娠期糖尿病遗传易感性关系[J].青岛大学学报(医学版),2018,54(2):176-179.
[13]Chinnery PF.Mitochondrial disease in adults:what's old and what's new?[J].EMBO Mol Med,2015,7(12):1503-1512.
[14]Parikh S,Goldstein A,Koenig MK,et al.Diagnosis and management of mitochondrial disease:a consensus statement from the Mitochondrial Medicine Society[J].Genet Med,2015,17(9):689-701.
[15]Moggio M,Colombo I,Peverelli L,et al.Mitochondrial disease heterogeneity:a prognostic challenge[J].Acta Myol,2014,33(2):86-93.
[16]《胚胎植入前遗传学诊断/筛查专家共识》编写组.胚胎植入前遗传学诊断/筛查技术专家共识[J].中华医学遗传学杂志,2018,35(2):151-155.
[17]Herbert M,Kalleas D,Cooney D,et al.Meiosis and maternal aging:insights from aneuploid oocytes and trisomy births[J].Cold Spring Harb Perspect Biol,2015,7(4):a017970.
[18]Donate A,Estop AM,Giraldo J,et al.Paternal age and numerical chromosome abnormalities in human spermatozoa[J].Cytogenet Genome Res,2016,148(4):241-248.
[19]谭跃球.关于近亲结婚的遗传咨询[J].中华医学遗传学杂志,2016,33(1):108-110.
[2]睢素利.关于遗传咨询及其相关伦理问题探讨[J].中国医学伦理学,2012,25(2):154-156.
[3]严恺,金帆.出生缺陷相关遗传病产前诊断技术新进展[J].浙江大学学报(医学版),2017,46(3):227-232.
[4]陆国辉,徐湘民.临床遗传咨询[M].北京:北京大学医学出版社,2007:25-26.
[5]邬玲仟,张学.医学遗传学[M].北京:北京人民卫生出版社,2016:121.
[6]李侃,熊焰.强直性肌营养不良一家系遗传学分析[J].中国优生与遗传杂志,2015,23(3):91-92.
[7]毛学群,戚红,张劭勤,等.产前诊断胎儿染色体异常病例相关分析[J].中国优生与遗传杂志,2017,25(7):51-53.
[8]郝虎,石聪聪,吴鹰军,等.基于目的基因捕获的高通量测序技术在遗传代谢病诊断中的应用[J].中华实用儿科临床杂志,2015,30(22):1721-1724.
[9]Wang QJ,Shen YP,Wu LQ,et al.Standards and guidelines for the interpretation of sequence variants[J].Sci Sin Vitae,2017,47(6):668-688.
[10]吴小青,李英,林娜,等.95例平衡易位携带者的产前诊断结果及临床分析[J].中华医学遗传学杂志,2016,33(3):418-421.
[11]Veltman JA,Brunner HG.De novo mutations in human genetic disease[J].Nat Rev Genet,2012,13(8):565-575.
[12]韦春莲,陈颖,徐瑛蕾,等.TGF-β1基因多态性与妊娠期糖尿病遗传易感性关系[J].青岛大学学报(医学版),2018,54(2):176-179.
[13]Chinnery PF.Mitochondrial disease in adults:what's old and what's new?[J].EMBO Mol Med,2015,7(12):1503-1512.
[14]Parikh S,Goldstein A,Koenig MK,et al.Diagnosis and management of mitochondrial disease:a consensus statement from the Mitochondrial Medicine Society[J].Genet Med,2015,17(9):689-701.
[15]Moggio M,Colombo I,Peverelli L,et al.Mitochondrial disease heterogeneity:a prognostic challenge[J].Acta Myol,2014,33(2):86-93.
[16]《胚胎植入前遗传学诊断/筛查专家共识》编写组.胚胎植入前遗传学诊断/筛查技术专家共识[J].中华医学遗传学杂志,2018,35(2):151-155.
[17]Herbert M,Kalleas D,Cooney D,et al.Meiosis and maternal aging:insights from aneuploid oocytes and trisomy births[J].Cold Spring Harb Perspect Biol,2015,7(4):a017970.
[18]Donate A,Estop AM,Giraldo J,et al.Paternal age and numerical chromosome abnormalities in human spermatozoa[J].Cytogenet Genome Res,2016,148(4):241-248.
[19]谭跃球.关于近亲结婚的遗传咨询[J].中华医学遗传学杂志,2016,33(1):108-110.