| 引用本文: | 易凤梅,冯宗辉,谌燕,李敏,瞿娟,向双芝.染色体易位夫妇的产前诊断临床分析及意义[J].中国临床新医学,0,():-. |
| 易凤梅.染色体易位夫妇的产前诊断临床分析及意义[J].中国临床新医学,0,():-. |
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| 摘要: |
| 【摘要】目的：目的探讨染色体易位对人群的生育情况的影响，并提供再生育指导。
方法：对2018年1月-2021年12月在本中心的17对染色体易位携带者夫妇行产前诊断，均行染色体核型及染色体微阵列分析（CMA）及妊娠结局随访。结果：17例染色体易位携带者中母源性14例，父源性3例；14例均有胎停或胎儿结构异常史，1例为首次妊娠胎儿结构异常，2例为首次妊娠胚胎植入前遗传学检测（preimplantation genetic test,PGT）；15例为涉及2条非同源染色体，2例涉及3条以上复杂染色体重排(complex chromosome rearrangements，CCR)。产前诊断胎儿核型及CMA结果中不平衡易位7例，平衡易位9例，核型正常1例为行植入前遗传学检测。妊娠结局：引产8例，分娩正常儿9例。结论：染色体易位携带者的妊娠不良结局风险高，应行产前诊断排除不平衡易位。对于反复流产者可选择植入前遗传学检测（PGT）或供精人工授精（男性染色体易位携带）获取正常后代，以减少出生缺陷发生。 |
| 关键词: 染色体平衡易位 产前诊断 妊娠结局 再生育指导 |
| DOI： |
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| 基金项目:怀化市出生缺陷防控临床医疗技术示范基地 项目编号：2020N2404 |
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| Clinical analysis and significance of prenatal diagnosis of chromosomal translocation couples |
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易凤梅
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huaihua Maternal and Child Health Care Hospita
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| Abstract: |
| 【Abstract】 Objective:Toexplore the influence ofchromosomal translocationon population fertility，and to provide reproductive guidance.Methods:17 chromosomal translocation carriers couples were prenatal diagnosed from January 2018 to ?December 2021, in our medical genetic center , and all of them were underwent chromosome karyotype and chromosome microarray analysis (CMA) and pregnancy outcome follow-up. Results:Among the 17 chromosomal translocation carriers couples, there were 14cases of maternal chromosomal translocation , and 3 cases of paternalchromosomal translocation ；there were 14 cases of a history of fetal stop or fetal structural abnormality, 1 case had abnormal fetal structure in the first pregnancy, and 2 cases were preimplantation genetic tests of embryos in the first pregnancy；there were 15 cases of involving 2 nonhomologous chromosomes, and 3 cases of involving more than 3 complex chromosomal rearrangements.Among the prenatal diagnosis of fetal nuclear type and CMA, there were 7 cases of unbalanced translocation, 9 cases of balanced translocation, and 1 case of normal nuclear type was performed as preimplantation genetic test (PGT).Amongpregnancy outcome, there were8 cases being induced labor，and 9 cases of normal delivery.Conclusion:there are a high risk of adverse pregnancy outcomes among chromosomal translocation carriers, and prenatal diagnosis should be performed to exclude unbalanced translocation . For recurrent miscarriage, preimplantation genetic testing (PGT) or artificial insemination (male chromosomal ectopic carry) can be selected to obtain normal offspring, in order to reduce the occurrence of birth defects. |
| Key words: Balanced translocation of chromosomes Prenatal diagnosis pregnancy outcome Reproductive guidance |
