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Do genetic factors explain recurrent pregnancy loss?

机译:遗传因素可以解释复发性流产吗?

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For the better part of the past 20 years I have consulted on or cared for well over 1000 patients with recurrent pregnancy loss (RPL) due to either stillbirths or miscarriages. So this is an area of obstetrics I have thought about quite a bit and it is fair to say that I have been very frustrated by my frequent inability to identify the cause of this tragic condition or to offer effective treatments. A rough classification scheme for RPL To grossly simplify this disorder based on 2 decades of personal observations, I would argue that there are 3 major patient populations affected by RPL. The first are older nulliparous patients who have delayed childbearing until their late 30s or early 40s and present with recurrent pre-embryonic (< 5 weeks) or embryonic (< 10 weeks) miscarriages with or without infertility. In rare cases, they also will have interspersed second- and third-trimester fetal deaths. When the products of conception (POCs) from these patients are accessible and can be karyotyped, they most often display aneuploidy (eg, trisomies, triploidy, or less commonly, deletions and insertions). We really do not understand the pathogenesis of maternal age-associated chromosomal instability and there is not much that we can offer to these patients beyond encouragement, and ultimately donor egg in vitro fertilization.
机译:在过去20年的大部分时间里,我已经为1000多例因死产或流产而导致的反复妊娠丢失(RPL)的患者进行了咨询或护理。因此,这是我考虑过很多的产科领域,可以说我对自己经常无法确定造成这种悲剧性疾病的原因或提供有效治疗感到沮丧。 RPL的粗略分类方案为了根据2年来的个人观察大致简化这种疾病,我认为有3个主要的患者人群受到RPL的影响。首先是年龄较大的未产妇患者,他们将分娩推迟到30年代末或40年代初,并出现反复的胚胎前流产(<5周)或胚胎流产(<10周),无论是否患有不育。在极少数情况下,他们还会散布在孕中期和孕中期的胎儿死亡。当这些患者的受孕产物(POC)易于获得并可以进行核型分析时,它们通常会显示非整倍性(例如,三体性,三倍体性,或较少见的缺失和插入)。我们真的不了解产妇与年龄相关的染色体不稳定的发病机制,我们无法为这些患者提供太多的鼓励,最终无法提供体外受精卵。

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