Department of Obstetrics and Gynaecology, Australian National University Medical School, Canberra, Australian Capital Territory, Australia.
Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.
Aust N Z J Obstet Gynaecol. 2020 Dec;60(6):976-979. doi: 10.1111/ajo.13206. Epub 2020 Aug 4.
Reproductive carrier screening enables the early identification of genetic conditions that may impact the long-term health of a child, including cystic fibrosis, fragile X syndrome, and spinal muscular atrophy. We used unique data from the major providers of pathology services in Australia to profile women who intend on becoming, or who are, pregnant and access basic to advanced testing for genetic conditions. We found a strong socioeconomic gradient in the uptake of reproductive carrier screening, with women living in the most advantaged postcodes across Australia significantly being more likely to have reproductive carrier screening than those living in the most disadvantaged areas. These results highlight the need to minimise social and financial barriers that are currently limiting access.
生殖载体筛查使人们能够早期识别可能影响儿童长期健康的遗传疾病，包括囊性纤维化、脆性 X 综合征和脊髓性肌萎缩症。我们使用澳大利亚主要病理服务提供商的独特数据，对计划怀孕或已经怀孕的女性进行基因疾病的基本和高级检测，并对她们的情况进行了分析。我们发现，生殖载体筛查的普及程度存在明显的社会经济梯度，澳大利亚那些最富裕地区的女性比最贫困地区的女性更有可能接受生殖载体筛查。这些结果突显了需要尽量减少目前限制获得途径的社会和经济障碍。
