| 摘要: |
| ［摘要］ 目的 分析17例染色体易位携带者的产前诊断及妊娠结果。方法 收集2018年1月至2021年12月怀化市妇幼保健院产前诊断中心经产前检查诊断为染色体易位携带的17例患者的临床资料，胎儿均行染色体核型及染色体微阵列分析（CMA），总结其诊断结果和妊娠结局。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［辅助生殖胚胎植入前遗传学检测（PGT）］，获正常儿。15例涉及2条非同源染色体；2例涉及3条以上复杂染色体重排(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（经辅助生殖PGT）。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，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 |
| DOI：10.3969/j.issn.1674-3806.2022.05.10 |
| 分类号:R 715 |
| 基金项目:怀化市科技计划项目（编号：2020N2404） |
|
| Prenatal diagnosis and pregnancy result analysis of 17 patients carrying chromosomal translocation |
|
YI Feng-mei, FENG Zong-hui, JIANG Shu-min, et al.
|
|
Prenatal Diagnosis Center, Huaihua City Maternal and Child Health Care Hospital, Hunan 418000, China
|
| Abstract: |
| ［Abstract］ Objective To analyze the prenatal diagnosis and pregnancy results of 17 patients carrying chromosomal translocation. Methods The clinical data of 17 patients diagnosed with chromosomal translocation carriers by prenatal examination at the Prenatal Diagnosis Center of Huaihua City Maternal and Child Health Care Hospital from January 2018 to December 2021 were collected. All the fetuses underwent chromosome karyotype and chromosome microarray analysis(CMA). The diagnostic results and pregnancy outcomes of the patients were summarized. Results Among the 17 chromosomal translocation carriers, 14 cases were maternal and 3 cases were paternal. 14 cases had a history of embryo arrest or fetal structural abnormalities; 1 case was the first pregnancy with fetal structural abnormalities; 2 cases were the first pregnancy［assisted reproductive embryo preimplantation genetic test(PGT)］, and normal babies were obtained. Fifteen cases involved 2 non-homologous chromosomes, and 2 cases involved more than 3 complex chromosome rearrangements(CCR). Prenatal diagnosis of fetal karyotype and CMA results showed 7 cases of unbalanced translocation, 9 cases of balanced translocation, and 1 case of normal karyotype(via assisted reproductive PGT). The pregnancy outcomes: 8 cases of induced labor, 9 cases of normal childbirth. Conclusion Chromosomal translocation carriers have a high risk of adverse pregnancy outcomes, and prenatal diagnosis should be made to exclude unbalanced translocations and reduce birth defects. |
| Key words: Chromosomal balanced translocation Prenatal diagnosis Pregnancy outcome |
