女方染色体多态对体外受精-胚胎移植妊娠结局的影响
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摘要
目的探讨女方染色体多态性对体外受精-胚胎移植(IVF-ET)结局的影响。方法回顾性比较IVF-ET助孕治疗的女方染色体多态(65对,女方多胎组)和正常对照夫妇(160对,正常对照组)的妊娠结局。结果女方多态组与正常对照组患者双原核(2PN)受精率、妊娠率、生化妊娠率均无统计学差异(P>0.05);然而多态组1PN受精率(8.48%)及多PN受精率(12.50%)均显著高于正常对照组(3.90%,7.96%)(P<0.01),卵裂率(89.21%)显著低于正常对照组(98.36%)(P<0.01)。虽然妊娠率比较未见明显差异,但多态组种植率(23.89%)低于正常对照组(35.40%)(P<0.05)。将不同的多态类型详细分组与正常对照组对比结果显示:1号、9号、16号染色体异染色质增加组1PN受精率(11.36%)及多PN受精率(17.02%)均显著高于正常对照组(3.90%,7.96%)(P<0.01),卵裂率(87.90%)显著低于正常对照组(98.36%,P<0.01);D/G组随体柄增长组卵裂率(80.00%)及种植率(17.65%)均低于对照组(98.36%,35.40%)(P<0.01,P<0.05);而9号染色体臂间倒位[inv(9)]患者各项指标与正常对照组相比无统计学差异。结论女方染色体多态,尤其是1号、9号、16号染色体异染色质增加会导致IVF助孕患者异常受精比例增加以及种植率降低;Inv(9)对IVF临床预后无明显影响,临床可根据患者不同的多态类型个体化给与遗传咨询指导。
Objective To explore the effect of female chromosomal polymorphism on in vitro fertilization and embryo transfer(IVF-ET) outcomes. Methods A retrospective analysis was performed in65 couples with female chromosomal polymorphism as the study group, and 160 normal karyotype couples as control group. The clinical outcomes including good-quality embryo rate, clinical pregnancy rate, implantation rate and miscarriage rate were compared between the two groups. Results There were no significant differences between two groups in patients' 2 pronucleus(PN) fertilized oocytes rate, good-quality embryo rate, clinical pregnancy rate and biochemical pregnancy rate(P>0.05), but the study group had higher 1 PN fertilized oocytes rate(8.48%) and polypronuclear rate(12.50%) and lower cleaved embryos rate(89.21%)than the control(3.90%, 7.96%, 98.36%)(P<0.01). Study group was divided into three subgroups as their polymorphism types and then compared with the control. 1 qh+, 9 qh+ and 16 qh+ subgroup had higher 1 PN fertilized oocytes rate(11.36%) and polypronuclear rate(17.02%), and lower cleaved embryos rate(87.90%)than the control(3.90%, 7.96%, 98.36%)(P<0.01); D/G group had lower cleaved embryos rate(80.00%) and implantation rate(17.65%) compared with control group(98.36%, 35.40%)(P<0.01, P<0.05). There were no significant differences between the inv(9) group and the control. Conclusions Female chromosomal polymorphism, especially 1 qh+, 9 qh+ and 16 qh+ carrier increase abnormal fertilization rate and decrease implantation rate. Chromosome 9 pericentric inversion does not impact IVF outcomes. We should afford individual genetic counseling suggestion according to the polymorphism types.
Objective To explore the effect of female chromosomal polymorphism on in vitro fertilization and embryo transfer(IVF-ET) outcomes. Methods A retrospective analysis was performed in65 couples with female chromosomal polymorphism as the study group, and 160 normal karyotype couples as control group. The clinical outcomes including good-quality embryo rate, clinical pregnancy rate, implantation rate and miscarriage rate were compared between the two groups. Results There were no significant differences between two groups in patients' 2 pronucleus(PN) fertilized oocytes rate, good-quality embryo rate, clinical pregnancy rate and biochemical pregnancy rate(P>0.05), but the study group had higher 1 PN fertilized oocytes rate(8.48%) and polypronuclear rate(12.50%) and lower cleaved embryos rate(89.21%)than the control(3.90%, 7.96%, 98.36%)(P<0.01). Study group was divided into three subgroups as their polymorphism types and then compared with the control. 1 qh+, 9 qh+ and 16 qh+ subgroup had higher 1 PN fertilized oocytes rate(11.36%) and polypronuclear rate(17.02%), and lower cleaved embryos rate(87.90%)than the control(3.90%, 7.96%, 98.36%)(P<0.01); D/G group had lower cleaved embryos rate(80.00%) and implantation rate(17.65%) compared with control group(98.36%, 35.40%)(P<0.01, P<0.05). There were no significant differences between the inv(9) group and the control. Conclusions Female chromosomal polymorphism, especially 1 qh+, 9 qh+ and 16 qh+ carrier increase abnormal fertilization rate and decrease implantation rate. Chromosome 9 pericentric inversion does not impact IVF outcomes. We should afford individual genetic counseling suggestion according to the polymorphism types.
引文
[1]Suganthi R,Vijesh VV,Vandana N,et al.Y choromosomal microdeletion screening in the workup of male infertility and its current status in India[J].Int J Fertil Steril,2014,7(4):253-266.
[2]周怡雯,洪燕,赵晓明,等.常见的染色体多态性与IVF-ET治疗的效果[J].生殖与避孕,2009,29(10):637-642.
[3]敖良飞,徐望明,杨菁,等.男性大Y染色体核型对辅助生殖疗效的影响[J].武汉大学学报(医学版),2010,31(3):357-359.
[4]Madon PF,Athalye AS,Parikh FR.Polymorphic variants on chromosomes probably play a significant role in infertility[J].Reprod Biomed Online,2005,11(6):726.
[5]Madon PF,Athalye AS,Parikh FR.High incidence of chromosome polymorphic variants in infertile couples[M].ISAR 2005 Programme and Abstract Book,India.
[6]Dubey S,Chowdhury MR,Prahlad B,et al.Cytogenetic causes for recurrent spontaneous abortions-an experience of 742 couples(1 484cases)[J].Indian J Hum Genet,2005,11(2):94-98.
[7]Dela Fuente-Cortros BE,Cerda-Flores RM,Ddvila-Rodriguez MI,et al.Chromosomal abnormalities and polymorphic variants in couples with repeated miscarriage in Mexico[J].Reprod Biomed Online,2009,18(4):543-548.
[8]Minocherhomji S,Athalye AS,Madon PF,et al.A case-control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype[J].Fertil Steril,2009,92(1):88-95.DOI:10.1016/j.fertnstert.2008.05.071.
[9]Karpen G,Endow S.Meiosis:chromosome behaviour and spindle dynamics[M]//Endow S,Glover D(eds).Frontiers in Biology.London:Oxford University Press,1998.
[10]Sahin FI,Yilmaz Z,Yuregir OO,et al.Chromosome heteromorphisms:an impact on infertility[J].J Assist Reprod Genet,2008,25(5):191-195.DOI:10.1007/s10815-008-9216-3.
[11]段程颖,王丽娟,王挺,等.染色体多态性与临床生殖效应的研究[J].生殖与避孕,2009,29(10):643-647.
[12]Carp H,Feldman B,Oelsner G,et a1.Parental karyotype and subsequent live births in recurrent miscarriage[J].Fertil Steril,2004,81(5):1296-1301.DOI:10.1016/j.fertnstert.2003.09.059.
[13]Broccoli D.Function,replication and structure of the mammalian telomere[J].Cytotechnology,2004,45(1-2):3-12.DOI:10.1007/s10616-004-5120-6.
[14]Qin SF,Wei P,Zeng L,et a1.Clinic analysis of 581 cases polymorphism chromosome[J].China J Birth Health Hered,2014,22(4):50-53.
[15]张海霞.染色体多态性与遗传效应的研究[J].中国医学检验杂志,2010(11):175.
[16]张春,王秀华.100对自然流产夫妇的染色体随体联合频率分析[J].中国优生与遗传杂志,2003,11(4):56.DOI:10.3969/j.issn.1006-9534.2003.04.028.
[17]Rieder CL,Salmoll ED.The vertebrate cell kinetochore and its roles during mitosis[J].Trends Cell Biol,1998(8):310-318.
[18]Dana M,Stoian V.Association of pericentric inversion of chromosome and infertility in romanian population[J].Maedica(Buchar),2012,7(1):25-29.
[19]张丽芳,许平,曾艳,等.产前诊断中9号染色体异常的发生频率及其生殖遗传效应[J].中华医学遗传学杂志,2014,31(4):531-532.DOI:10.3760/cma.j.issn.1003-9406.2014.04.029.
[20]Yamada K.Population studies of inv(9)chromosomes in 4 300Japanese:incidence,sex difference and clinical significance[J].Jpn J Hum Genet,1992,37:293-301.DOI:10.1007/BF01883320.
[21]王琳琳,贺爱军,蔡涛,等.9号染色体多态性与l临床效应的关系探讨[J].中国优生与遗传杂志,2014,22(2):49.
[22]许定飞,伍琼芳,赵琰,等.59例行体外受精-胚胎移植治疗患者的染色体核型分析[J].生殖医学杂志,2009,18(6):520-523.DOI:10.3969/j.issn.1004-3845.2009.06.005.
[23]梁珊珊,潘家坪,滕晓明.辅助生殖治疗中9号染色体倒位的临床意义[J].生殖与避孕,2013,33(5):453-455.DOI:10.7669/j.issn.0253-357X.2013.07.0453.
[24]周建军,王玢,陈华,等.携带9号染色体臂间倒位的不孕症夫妇IVF/ICSI结局分析[J].生殖医学杂志,2015,24(11):885-889.DOI:10.3969/j.issn.1004-3845.2015.11.002.
[2]周怡雯,洪燕,赵晓明,等.常见的染色体多态性与IVF-ET治疗的效果[J].生殖与避孕,2009,29(10):637-642.
[3]敖良飞,徐望明,杨菁,等.男性大Y染色体核型对辅助生殖疗效的影响[J].武汉大学学报(医学版),2010,31(3):357-359.
[4]Madon PF,Athalye AS,Parikh FR.Polymorphic variants on chromosomes probably play a significant role in infertility[J].Reprod Biomed Online,2005,11(6):726.
[5]Madon PF,Athalye AS,Parikh FR.High incidence of chromosome polymorphic variants in infertile couples[M].ISAR 2005 Programme and Abstract Book,India.
[6]Dubey S,Chowdhury MR,Prahlad B,et al.Cytogenetic causes for recurrent spontaneous abortions-an experience of 742 couples(1 484cases)[J].Indian J Hum Genet,2005,11(2):94-98.
[7]Dela Fuente-Cortros BE,Cerda-Flores RM,Ddvila-Rodriguez MI,et al.Chromosomal abnormalities and polymorphic variants in couples with repeated miscarriage in Mexico[J].Reprod Biomed Online,2009,18(4):543-548.
[8]Minocherhomji S,Athalye AS,Madon PF,et al.A case-control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype[J].Fertil Steril,2009,92(1):88-95.DOI:10.1016/j.fertnstert.2008.05.071.
[9]Karpen G,Endow S.Meiosis:chromosome behaviour and spindle dynamics[M]//Endow S,Glover D(eds).Frontiers in Biology.London:Oxford University Press,1998.
[10]Sahin FI,Yilmaz Z,Yuregir OO,et al.Chromosome heteromorphisms:an impact on infertility[J].J Assist Reprod Genet,2008,25(5):191-195.DOI:10.1007/s10815-008-9216-3.
[11]段程颖,王丽娟,王挺,等.染色体多态性与临床生殖效应的研究[J].生殖与避孕,2009,29(10):643-647.
[12]Carp H,Feldman B,Oelsner G,et a1.Parental karyotype and subsequent live births in recurrent miscarriage[J].Fertil Steril,2004,81(5):1296-1301.DOI:10.1016/j.fertnstert.2003.09.059.
[13]Broccoli D.Function,replication and structure of the mammalian telomere[J].Cytotechnology,2004,45(1-2):3-12.DOI:10.1007/s10616-004-5120-6.
[14]Qin SF,Wei P,Zeng L,et a1.Clinic analysis of 581 cases polymorphism chromosome[J].China J Birth Health Hered,2014,22(4):50-53.
[15]张海霞.染色体多态性与遗传效应的研究[J].中国医学检验杂志,2010(11):175.
[16]张春,王秀华.100对自然流产夫妇的染色体随体联合频率分析[J].中国优生与遗传杂志,2003,11(4):56.DOI:10.3969/j.issn.1006-9534.2003.04.028.
[17]Rieder CL,Salmoll ED.The vertebrate cell kinetochore and its roles during mitosis[J].Trends Cell Biol,1998(8):310-318.
[18]Dana M,Stoian V.Association of pericentric inversion of chromosome and infertility in romanian population[J].Maedica(Buchar),2012,7(1):25-29.
[19]张丽芳,许平,曾艳,等.产前诊断中9号染色体异常的发生频率及其生殖遗传效应[J].中华医学遗传学杂志,2014,31(4):531-532.DOI:10.3760/cma.j.issn.1003-9406.2014.04.029.
[20]Yamada K.Population studies of inv(9)chromosomes in 4 300Japanese:incidence,sex difference and clinical significance[J].Jpn J Hum Genet,1992,37:293-301.DOI:10.1007/BF01883320.
[21]王琳琳,贺爱军,蔡涛,等.9号染色体多态性与l临床效应的关系探讨[J].中国优生与遗传杂志,2014,22(2):49.
[22]许定飞,伍琼芳,赵琰,等.59例行体外受精-胚胎移植治疗患者的染色体核型分析[J].生殖医学杂志,2009,18(6):520-523.DOI:10.3969/j.issn.1004-3845.2009.06.005.
[23]梁珊珊,潘家坪,滕晓明.辅助生殖治疗中9号染色体倒位的临床意义[J].生殖与避孕,2013,33(5):453-455.DOI:10.7669/j.issn.0253-357X.2013.07.0453.
[24]周建军,王玢,陈华,等.携带9号染色体臂间倒位的不孕症夫妇IVF/ICSI结局分析[J].生殖医学杂志,2015,24(11):885-889.DOI:10.3969/j.issn.1004-3845.2015.11.002.