Cifuentes Ochoa Marta, Flowers Nicola Jane, Pertile Mark Domenic, Archibald Alison Dalton
Department of Paediatrics, University of Melbourne, Victoria, Parkville, Australia.
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Victoria, Parkville, Australia.
J Genet Couns. 2023 Oct;32(5):1057-1068. doi: 10.1002/jgc4.1716. Epub 2023 Apr 26.
Reciprocal translocation carriers are often diagnosed when they are experiencing difficulties conceiving or after a pregnancy affected by an unbalanced set of chromosomes inherited from the balanced carrier parent. Having a reciprocal translocation is not uncommon; carriers can benefit from reproductive options to achieve a healthy, chromosomally balanced, pregnancy. The aim of this study was to explore the lived experience of carriers and their partners. We conducted 13 semi-structured telephone interviews. Participants were recruited through Victorian Clinical Genetics Services and interviews took place between May and September 2020. Interview transcripts were analyzed using thematic analysis. Reciprocal translocation carriers and their partners described long term emotional and reproductive impacts, with carrier status identified at the time of prenatal diagnosis having marked emotional consequences. Couples facing reproductive challenges found the diagnosis created uncertainty for their future. When considering a pregnancy, couples worried about experiencing a miscarriage; during pregnancy, there was a reluctance to have an invasive diagnostic procedure due to fearing the risk of losing an unaffected pregnancy. Adaptation to their new reality involved having access to accurate information, peer support and maintaining hope. Couples valued having the option to know the carrier status of their children. The complex impacts of carrying a reciprocal translocation highlight the importance of access to specialist genetic counseling services to ensure couples are supported in understanding the implications of their translocation.
相互易位携带者通常在经历受孕困难时，或在怀孕后被诊断出来，后者是由于从平衡携带者父母那里遗传了一组不平衡的染色体。有相互易位的情况并不罕见；携带者可以从生殖选择中受益，以实现健康的、染色体平衡的怀孕。本研究的目的是探索携带者及其伴侣的生活经历。我们进行了13次半结构化电话访谈。参与者通过维多利亚临床遗传学服务机构招募，访谈于2020年5月至9月期间进行。访谈记录采用主题分析法进行分析。相互易位携带者及其伴侣描述了长期的情感和生殖影响，产前诊断时确定的携带者状态具有明显的情感后果。面临生殖挑战的夫妇发现，这种诊断给他们的未来带来了不确定性。考虑怀孕时，夫妇们担心会流产；怀孕期间，由于担心失去未受影响的怀孕，他们不愿接受侵入性诊断程序。适应他们的新现实包括获得准确的信息、同伴支持并保持希望。夫妇们重视能够选择了解其子女的携带者状态。携带相互易位的复杂影响凸显了获得专业遗传咨询服务的重要性，以确保夫妇们在理解其易位的影响方面得到支持。
