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一例具有家族性原发性纤毛运动障碍的两姐妹之一接受 ICSI 后妊娠的报告。

A report of pregnancy following ICSI in one of two sisters with familiar primary ciliary dyskinesia.

机构信息

Department of Animal Biotechnology, Reproductive Biomedicine Research Center, Royan Institute for Biotechnology, ACECR, Isfahan, Iran.

Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

出版信息

Andrologia. 2021 Aug;53(7):e14080. doi: 10.1111/and.14080. Epub 2021 May 9.

DOI:10.1111/and.14080
PMID:33966302
Abstract

Primary ciliary dyskinesia (PCD) is a disorder of structure and function of motor ciliary and dyskinetic activity of ciliary in the fallopian tubes of affected women and could lead to infertility in some cases. In vitro fertilisation (IVF) is a choice of treatment in infertile women with PCD, which could conquer the tubal dysfunction. In this case study, we report a PCD affected woman with infertility who was treated by IVF and pregnancy was achieved but it failed due to the spontaneous abortion. We also performed whole-exome sequencing for this case and her PCD-affected sister, which did not reveal any genetic abnormality related to the PCD or infertility.

摘要

原发性纤毛运动障碍(PCD)是一种结构和功能障碍的运动纤毛和纤毛活动异常的输卵管在受影响的妇女,并可能导致在某些情况下不孕。体外受精(IVF)是治疗不孕的妇女与 PCD 的一种选择,可以克服管腔功能障碍。在这个案例研究中,我们报告了一个患有 PCD 的不孕妇女,她接受了 IVF 治疗并怀孕,但由于自然流产而失败。我们还对该病例及其患有 PCD 的姐妹进行了全外显子组测序,未发现与 PCD 或不孕相关的任何遗传异常。

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Hum Reprod Update. 2023 May 2;29(3):347-367. doi: 10.1093/humupd/dmad003.