McGlynn Julie, DeCelie-Germana Joan K, Kier Catherine, Langfelder-Schwind Elinor
Gynecology and Reproductive Sciences, Department of Obstetrics, Yale School of Medicine, New Haven, CT 06510, USA.
Zucker School of Medicine at Northwell Division of Pediatric Pulmonary, and Cystic Fibrosis Center, Cohen Children's Medical Center, New Hyde Park, NY 11040, USA.
Life (Basel). 2023 Jul 12;13(7):1545. doi: 10.3390/life13071545.
With the advent of highly effective modulator therapies, many people with cystic fibrosis (CF) are living longer, healthier lives. Pregnancy rates for women with CF more than doubled between 2019 and 2021, reflecting increases in both planned and unplanned pregnancies. For men with CF, CF-associated infertility can be mitigated with assistive reproductive technology, yet patient knowledge of these challenges and options is variable. Preconception and prenatal counseling for individuals with CF and for parents of children with CF who wish to expand their families requires nuanced discussions to promote informed reproductive decisions, drawing from a combination of standard practice recommendations and CF-specific assessments. This review article synthesizes the current literature and practice recommendations regarding reproductive counseling and care in CF, outlining the role of genetic counseling, carrier screening, teratogen counseling, in vitro fertilization and pre-implantation genetic diagnosis, and careful assessment and management of cystic fibrosis-related diabetes when present. Via a multidisciplinary, patient-centered approach, clinicians can support adults with CF and parents of children with CF as they make informed reproductive decisions and embark on family planning.
随着高效调节剂疗法的出现，许多囊性纤维化（CF）患者的寿命更长，生活更健康。2019年至2021年间，CF女性的怀孕率增加了一倍多，这反映出计划内和意外怀孕的增加。对于患有CF的男性，CF相关的不孕症可以通过辅助生殖技术得到缓解，但患者对这些挑战和选择的了解程度各不相同。对于患有CF的个人以及希望扩大家庭的CF儿童的父母，孕前和产前咨询需要进行细致入微的讨论，以促进明智的生殖决策，这需要结合标准实践建议和CF特异性评估。这篇综述文章综合了当前关于CF生殖咨询和护理的文献及实践建议，概述了遗传咨询、携带者筛查、致畸剂咨询、体外受精和植入前基因诊断的作用，以及在存在囊性纤维化相关糖尿病时进行仔细评估和管理的方法。通过多学科、以患者为中心的方法，临床医生可以支持患有CF的成年人以及CF儿童的父母做出明智的生殖决策并开展计划生育。
