关键词: aneuploidy chromosome 9 in vitro fertilization infertility pericentric inversion

Mesh : Humans Pregnancy Male Child Female Adult Sperm Injections, Intracytoplasmic Preimplantation Diagnosis / methods Fertilization in Vitro / methods Pregnancy Rate Embryo Transfer / methods Infertility / genetics Aneuploidy Chromosomes, Human, Pair 9 Fathers

来  源:   DOI:10.3390/medicina58111646

Abstract:
Evidence suggests that the pericentric inversion of chromosome 9 (inv(9)) does not affect the aneuploidy rate (38.5%) after IVF. Herein, we report a successful live female twin birth through IVF/ICSI with a high aneuploidy rate from a couple within which the infertile father has inv(9)(p12q13). A couple (a 34-year-old male and a 35-year-old female) was referred to our clinic due to infertility. The wife has a child with her previous husband. Results from the infertility workup of both parents were normal. Karyotyping revealed that the inv(9)(p12q13) of the father was the only cytogenetic abnormality. Preimplantation genetic testing for aneuploidies (PGT-A) after IVF/ICSI revealed a high aneuploidy rate (77%; 10/13). Two euploid blastocysts were transferred, resulting in a successful live female twin birth. The presented case highlights the possibility that inv(9)(p12q13) in males may impact the fertility and euploidy rate. PGT-A facilitates the selection of qualified blastocysts for the optimization of live-birth outcomes.
摘要:
有证据表明,9号染色体(inv(9))的外周倒位不影响IVF后的非整倍体率(38.5%)。在这里,我们报告了通过IVF/ICSI成功分娩的一对夫妇的非整倍性率很高,其中不育父亲患有inv(9)(p12q13)。一对夫妇(一名34岁的男性和一名35岁的女性)因不孕症被转诊到我们的诊所。妻子和前夫有一个孩子。父母双方的不孕症检查结果均正常。核型分析显示,父亲的inv(9)(p12q13)是唯一的细胞遗传学异常。IVF/ICSI后非整倍体(PGT-A)的植入前遗传测试显示出高的非整倍体率(77%;10/13)。转移了两个整倍体胚泡,导致成功的女性双胞胎出生。该案例强调了男性inv(9)(p12q13)可能影响生育力和整倍体率的可能性。PGT-A有助于选择合格的胚泡以优化活产结果。
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