探討非侵入性產前檢測之目前觀點與未來挑戰

Non-invasive Prenatal Testing: Current Perspectives and Future Challenges

黃斯敏(Si Man Wong)

指導教授 ： 李瑤玲

共同指導教授 ： 孟麗榮(Li Rong Meng)

中山醫學大學/醫學科技學院/醫學檢驗暨生物技術學系/碩士(2022年)

https://doi.org/10.6834/csmu202200029

摘要

隨著高通量分子技術的發展和母體血漿中游離胎兒DNA的發現 ,近年來非侵入性產前胎兒染色體異常檢測受到廣泛推行。非侵入性產前檢測在胎兒非整倍體篩查方面具有非常高的敏感度和特異性，比血
清分析物檢測有更高的檢測率及更低的偽陽性。但微缺失微重覆因發生率低、病例少，檢測的臨床效用尚未在臨床研究中得到驗證。侵入性產前診斷仍然是目前確認陽性結果診斷的標準方法。受個體因素影
響及技術限制，部份孕婦可能不適合進行非侵入性檢測甚至因檢測失敗而無法得到檢測結果。產前檢測諮詢對孕婦選擇合適的檢測方法以及陽性病例的妊娠管理決策發揮著至關重要的作用。本文以文獻回顧
方式探討非侵入性產前檢測在臨床上應用的優勢與局限、技術發展趨向、醫學倫理問題以及檢測前後諮詢的重要性。

關鍵字

游離胎兒 DNA ； 非侵入性產前檢測 ； 非整倍體 ； 篩查 ； 產前 ； 檢測諮詢 ； 醫學倫理

並列摘要

With the development of high-throughput molecular technology and the discovery of cell-free fetal DNA in maternal plasma, non-invasive prenatal fetal chromosomal abnormality testing has been widely promoted in recent years. Non-invasive prenatal testing has very high sensitivity and specificity for fetal aneuploidy screening, and has higher detection rates and lower false positives than serum analyte testing. However, due to the low incidence and few cases, the clinical utility of microdeletion and microduplication detection has not been verified in clinical studies. Invasive prenatal diagnosis is the standard method for confirming a positive result and diagnosis. Due to individual factors and technical limitations, some pregnant women may not successfully proceed with non-invasive tests and get a nonreportable result. Prenatal testing counsellor plays a critical role in the selection of appropriate testing methods for pregnant women and pregnancy management decisions in positive cases. This article discusses the advantages and limitations of non-invasive prenatal testing in clinical applications, technical development trends, medical ethics issues, and the importance of pre-and post-test counselling by literature review.

並列關鍵字

cell-free fetal DNA ； Non-invasive prenatal testing ； aneuploidy ； screening ； ethics ； pre-and post-test counselling

參考文獻

[1] Nussbaum RL, McInnes RR, Willard HF. Principles of clinical cytogenetics and genome analysis. In: Thompson Thompson genetics in medicine. 8th ed. Philadelphia,PA: Elsevier; 2016. p. 57–74. (Level III)

[2] American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics; Committee on Genetics; Society for Maternal-Fetal Medicine. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226. Obstet Gynecol. 2020 Oct;136(4):e48-e69. doi: 10.1097/AOG.0000000000004084. PMID: 32804883.

[3] Ozkan E, Lacerda MP. Genetics, Cytogenetic Testing And Conventional Karyotype. In: StatPearls. StatPearls Publishing, Treasure Island (FL); 2021. PMID: 33085440.

[4] Shaffer BL, Norton ME. Cell-Free DNA Screening for

Aneuploidy and Microdeletion Syndromes. Obstetrics and Gynecology Clinics of North America. 2018 Mar;45(1):13-26. DOI: 10.1016/j.ogc.2017.10.001. PMID: 29428281.