罗氏易位携带者植入前遗传学检测和临床结局分析
Genetic testing of carriers with Robertsonian translocations before embryo implantation and associated clinical outcomes
摘要为探讨罗伯逊易位(又称罗氏易位)携带者行染色体结构重排的植入前遗传学检测(PGT-SR)获得胚胎的染色体状态和辅助生殖临床结局,回顾性分析2017年2月至2023年12月解放军总医院第一医学中心112例染色体罗氏易位携带者(男51例,女61例)进行的148个PGT-SR治疗周期临床资料。rob(13;14)是最常见的易位形式,占65.2%(73/112)。720枚囊胚中可移植胚胎为303枚(42.1%)。胚胎的易位染色体亲本来源分析结果显示,男方携带者可移植胚胎比例高于女方携带者[50.0%(149/298)比36.5%(154/422), P<0.001];临床妊娠率高于女方携带者,但差异无统计学意义[62.9%(39/62)比49.4%(38/77), P=0.154]。共139个囊胚移植周期,临床妊娠率55.4%(77/139),流产率14.3%(11/77)。罗氏易位携带者在PGT-SR治疗周期中,男性携带者比女性携带者获得更多的可移植胚胎。
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abstractsA total of 112 carriers (51 males and 61 females) with Robertsonian translocations who underwent 148 cycles of preimplantation genetic testing for structural rearrangements (PGT-SR) between February 2017 and December 2023 at the First Center of General Hospital of Chinese PLA were recruited. The heterologous type rob (13; 14) was the most common form of translocation, which accounted for 65.2% (73/112). The total euploidy rate of blastocysts was 42.1% (303/720). Male carriers had higher rate of euploid embryo than female carriers [50.0% (149/298) vs 36.5% (154/422), P<0.001]. Likewise, the clinical pregnancy rate in male carriers was higher than female carriers, but the difference was not statistically significant [62.9% (39/62) vs 49.4% (38/77), P=0.154]. There were 139 transferrable embryos, with a clinical pregnancy rate of 55.4% (77/139) and abortion rate of 14.3% (11/77). The current study indicates that male carriers with Robertsonian translocations had higher rate of euploid embryo than female carriers in PGT-SR cycles.
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