Department of Nephrology, Changzheng Hospital, Second Military Medical University, 415 Fengyang Road, Shanghai, 200003, China.
Department of Nephrology, The First Affiliated Hospital, Sun Yat-sen University, NHC Key Laboratory of Nephrology (Sun Yat-sen University), Guangdong Provincial Key Laboratory of Nephrology, Guangzhou, 510080, China.
BMC Nephrol. 2020 Apr 25;21(1):147. doi: 10.1186/s12882-020-01785-x.
With the development and progression of genetic technology, preimplantation genetic testing (PGT) has made it possible to block the inheritance of autosomal dominant polycystic kidney disease (ADPKD) as early as possible. However, we need to know the patients' fertility intentions and their acceptance of PGT.
A questionnaire survey was conducted to collect data on the basic demographic data, quality of life, social support, fertility willingness, and level of understanding of genetic testing for blocking the inheritance of ADPKD among patients aged 18-45 years in seven hospitals from January 2018 to December 2018. After verification, statistics were calculated.
A total of 260 patients with ADPKD were interviewed, including 137males (52.7%) and 123 females (47.3%). The overall fertility willingness rate was low (n = 117, 45.0%). The proportion of married patients aged 25-34 years that were at the optimal reproductive age but did not yet have children was relatively high (n = 77, 67.0%). The fertility intentions of ADPKD patients were significantly influenced by age (OR: 0.101, 95% CI 0.045-0.225, P < 0.001) and education level (OR: 2.134, 95% CI 1.162-3.917, P = 0.014). Among patients who are willing to have children, 207 (79.6%) of them would choose PGT technology. Among those who were not sure whether they would choose PGT technology, the first major concern was technical safety (49.2%).
The reproductive desire of childbearing ADPKD patients in China was low. Strengthening the health education of ADPKD genetic knowledge and reducing the cost of related technologies may improve the fertility intentions and reduce the barriers to acceptance of PGT.
随着基因技术的发展和进步,胚胎植入前遗传学检测(PGT)已经可以尽早阻止常染色体显性多囊肾病(ADPKD)的遗传。然而,我们需要了解患者的生育意愿及其对 PGT 的接受程度。
采用问卷调查的方式,收集 2018 年 1 月至 12 月 7 家医院 18-45 岁 ADPKD 患者的基本人口学资料、生活质量、社会支持、生育意愿及对阻断 ADPKD 遗传的基因检测的理解程度等资料。经核查后进行统计学计算。
共访谈 ADPKD 患者 260 例,其中男 137 例(52.7%),女 123 例(47.3%);整体生育意愿率较低(n=117,45.0%);25-34 岁处于最佳生育年龄且尚未生育的已婚患者比例较高(n=77,67.0%);患者的生育意愿受年龄(OR:0.101,95%CI 0.045-0.225,P<0.001)和文化程度(OR:2.134,95%CI 1.162-3.917,P=0.014)影响显著;在有生育意愿的患者中,207 例(79.6%)愿意选择 PGT 技术;在不确定是否选择 PGT 技术的患者中,技术安全性是首要顾虑(49.2%)。
中国 ADPKD 患者的生育愿望较低。加强 ADPKD 遗传知识的健康教育,降低相关技术的费用,可能会提高生育意愿,降低对 PGT 的接受障碍。