Department for Integrative Gynecology, Obstetrics and Minimally Invasive Gynecologic Surgery, Zabok General Hospital and Croatian Veterans Hospital, Zabok, Croatia.
Faculty of Dental Medicine and Health, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia.
Z Geburtshilfe Neonatol. 2022 Oct;226(5):300-303. doi: 10.1055/a-1904-8406. Epub 2022 Aug 29.
Cell-free DNA (cfDNA) first-trimester screening for fetal aneuploidies, as a non-invasive, safe, and rather accurate method, has changed prenatal screening policies all over the world. Owing to aggressive marketing, cfDNA screening tests exhibit global popularity and a rapid spread in routine prenatal care. However, wide availability of the tests, together with observed difficulties in the test's interpretation, bring to light several serious ethical concerns. To date it is vital to identify and address the most important ethical, legal, and social issues regarding prenatal screening tests. Furthermore, guidelines and restrictions in certain cfDNA screening advancements that may provide information regarding fetal genetic traits of unknown clinical significance, conditions with variable penetrance, or late-onset conditions, should be considered.
游离胎儿 DNA（cfDNA）在孕早期的筛查，作为一种非侵入性、安全且相当准确的方法，已经改变了全球的产前筛查政策。由于积极的市场推广，cfDNA 筛查测试在常规产前保健中得到了全球普及和迅速传播。然而，这些测试的广泛应用，加上在测试解释方面观察到的困难，引发了一些严重的伦理问题。迄今为止，确定并解决与产前筛查测试相关的最重要的伦理、法律和社会问题至关重要。此外，还应考虑对 cfDNA 筛查进展的某些限制和指导方针，这些进展可能提供有关胎儿遗传特征的未知临床意义、具有可变外显率或迟发性疾病的信息。
