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在斯洛文尼亚的公共卫生保健系统内进行植入前遗传检测
1Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Balkan journal of medical genetics : BJMG
|March 14, 2024
概括
植入前遗传检测 (PGT) 为严重遗传疾病提供了产前早期诊断. 在斯洛文尼亚,公共卫生保健中的PGT服务对约三分之一的风险夫妇来说是一个可行的选择,其结果与较大的中心相美.
科学领域:
- 生殖医学 生殖医学
- 临床遗传学 临床遗传学
- 公共卫生 公共卫生
背景情况:
- 植入前遗传检测 (PGT) 是一个重要的产前诊断工具,对夫妇有传播严重遗传疾病的风险.
- 已建立的PGT服务对于明智的计划生育和减少遗传疾病的发生率至关重要.
- 将PGT整合到公共医疗保健系统中对于可访问性和公平护理至关重要.
研究的目的:
- 介绍斯洛文尼亚公共医疗保健系统中UMC卢布尔雅纳15年PGT服务数据.
- 使用各种胚胎活检和检测方法,比较染色体和单基性疾病的PGT临床结果.
- 评估与传统产前诊断相比,PGT的采用率.
主要方法:
- 一项基于注册的回顾性研究,分析了从2004年到2019年的PGT周期.
- 数据收集包括患者的人口统计,遗传征兆,活检技术 (母细胞体与母细胞体) 和临床结果.
- 在不同的PGT方法和时间段中比较怀孕和分娩率.
主要成果:
- 211对夫妇接受了单基因疾病,结构性染色体重排或数值偏差的PGT.
- 263个胚胎移植导致78个分娩和84个孩子.
- 每次胚胎移植的临床怀孕率从31% (2004-2016年,胚芽细胞活检) 增加到43% (2017-2019年,胚芽细胞活检).
结论:
- 斯洛文尼亚公共卫生保健系统内的PGT服务是计划怀孕的夫妇和面临遗传疾病传播风险的重要选择.
- 大约三分之一的夫妇选择PGT,而其他人更喜欢自然受孕与产前诊断.
- 该研究表明,斯洛文尼亚的PGT产生的临床结果与较大的国际中心相美,尽管周期数量较小.
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