非侵入性產前染色體檢測契約之法律問題研究

A Study of The Contract of Non-Invasive Prenatal Testing

隨著僅需以抽取孕婦於妊娠10週起10毫升血液，經分離胎兒小片段游離核苷酸DNA，利用次世代基因定序方式將胎兒小片段DNA放大，依染色體出現數目、頻率來計算胎兒有無三染色體異常，且準確率高達99%以上之「非侵入性產前染色體檢測」技術納入產前檢查實施並精進，檢測機構透過商業化與孕婦締結定型化契約，然檢測結果一旦錯誤，尤其偽陰性之情形，孕婦不再進行具有風險之「絨毛取樣術」或「羊膜腔穿刺術」，以致於喪失依優生保健法第9條及施行細則得於妊娠24週前享有之「人工流產自主決定權」，故此種新興檢測契約之醫療契約性質、當事人認定、承攬契約定性、締約說明與契約效果，及如具有可歸責檢測機構之瑕疵，所發生之瑕疵擔保與債務不履行責任競合時，關於履行利益賠償項目、金額限制及舉證責任分配等問題，均值得作一全面性之研究。

As the newest prenatal screening “Non-invasive prenatal testing (NIPT)” for common autosomal aneuploidy moves into obstetrical practice and continues to advance, reaching nearly diagnostic levels of accuracy (> 99%) otherwise only achieved by invasive procedures like chorionic villus sampling (CVS) or amniocentesis, but requiring only a sample of extracted maternal blood (10ML) at ten weeks of gestation period, from which cell-free fetal DNA fragments obtained, isolated, amplified, subjected to next-generation DNA sequencing followed by algorithms, the legal issues, arising from the elements of essence, obligations, quality of work, informed patient choice, performance interest, damages incurred due to contractors’ negligence, and the allocation of burden of proof, in standard undertaking contracts between clinical laboratories and pregnant women who was misled by false negative results to refrain from seeking an invasive diagnosis, and ended up with being deprived of “Reproductive Rights” established by “Genetic Health Act” section 9, are well worth a comprehensive analysis.