新興產前遺傳檢測之臨床運用及倫理考量

Innovative Prenatal Testing: Clinical Applications and Ethical Considerations

藉由生物醫學科技之快速發展，新增許多產前遺傳檢測項目以積極協助孕婦增加對於其懷孕胎兒的了解。而市面亦常見各類針對孕婦產前檢驗的廣告。其中非侵入性胎兒染色體檢測提出可早期、安全又準確的檢測胎兒染色體異常疾病，此新興產前遺傳檢測究竟是指哪個項目？其適用性有何特殊考量？有哪些倫理考量或政策議題是需要去關注的？本文提供新興產前遺傳檢測之相關資訊、臨床指引及其倫理與政策議題，並以案例分析呈現不同情境之執行要點，期能有助於提升對於新時代遺傳檢測於孕產婦照護之多元資訊，以利提升產科照護之品質。

The biomedical technology related to prenatal screen/diagnosis has developed rapidly in recent decades. Many prenatal genetic examinations are now available to assist pregnant women to better understand the status and development of their fetus. Moreover, many commercial advertisements for innovative prenatal examinations are now shown in the media. Cell-free DNA Screening （cfDNA screening）, a non-invasive prenatal testing （NIPT） procedure, is a safe and high accuracy test that may be done at an earlier gestational age to screen for fetal aneuploidy. The following questions should be considered when applying cfDNA screening in clinical practice: 1. what is cfDNA screening, 2. who are its potential users, and 3. what ethical and policy considerations are associated with this examination? This article provides relevant information, clinical practice guidelines, and ethical/ policy considerations related to cfDNA screening. Discussing cases involving different clinical situations helps promote understanding of cfDNA screening and maternal-care quality.