亞美尼亞專家呼吁：將NIPT納入國家社保
2025-11-28
Karine H. Tokhunts博士，亞美尼亞埃里溫國立醫科大學超聲診斷學課程教授
在亞美尼亞，受限于落后的風險評估和診斷體系，高達九成的羊水穿刺為非必要的，許多孕婦被迫接受了侵入性檢查，無端承擔了身體與經濟的雙重壓力。
針對這一現狀，埃里溫國立醫科大學教授、亞美尼亞婦產超聲協會主席 Karine Tokhunts 博士發表署名文章呼吁：應盡快將無創產前篩查（NIPT）納入國家醫保，作為常規產檢項目，讓更多準媽媽安心孕育。（以下中文部分為署名文章英文對照翻譯，供讀者參考。）
亞美尼亞應將NIPT納入國家醫保體系
每個嬰兒的健康降臨，都牽動著整個家庭的幸福與未來。為切實提升亞美尼亞的母嬰健康水平，將先進的無創產前基因檢測（NIPT）納入國家醫保體系刻不容緩。
Every healthy birth matters to their family. Our healthcare system must adopt modern, effective tools to improve maternal and child health. One of the key steps is to include Non-Invasive Prenatal Testing (NIPT) in our state health insurance system.
NIPT具有極高的靈敏度和特異性，能夠準確識別包括唐氏綜合征（21三體）、愛德華綜合征（18三體）和帕陶氏綜合征（13三體）等常見染色體異常。相較于羊水穿刺等侵入性檢查，NIPT更加安全可靠，不會對胎兒造成傷害。
NIPT is a safe and highly accurate screening test. It can detect common chromosomal conditions like Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). Unlike invasive procedures such as amniocentesis, NIPT carries no risk of harming the fetus.
埃里溫國立醫科大學非常重視醫生在產前診斷方面的專業訓練。課程不僅教授如何科學選擇篩查方式，更強調醫生與孕婦之間的有效溝通。
In training future doctors at Yerevan State Medical University, we emphasize the importance of accurate prenatal diagnosis. We teach students how and when to prescribe both invasive and non-invasive tests, and how to communicate with patients clearly and ethically.
然而在亞美尼亞，目前臨床上仍主要依賴傳統的羊水穿刺技術。這導致許多孕婦因擔心侵入性操作而放棄產前檢測；與此同時，也有部分孕婦因風險評估不夠精準，被引導接受了本不必要的穿刺檢查，從而承受了不必要的風險與經濟負擔。
Unfortunately, our graduates can only follow the traditional approaches. Armenia’s current prenatal care system still relies heavily on amniocentesis, an invasive procedure that is both often overused and underused. Many women who would benefit from it avoid the test due to fear, limited access to information, or inadequate counseling. Meanwhile, others are referred for amniocentesis unnecessarily, due to errors in the risk assessment process.
造成這些問題的原因有許多，如超聲波測量不準確、生化指標解讀失誤，甚至可能是篩查系統中數據錄入出錯。有些診所仍采用人工記錄的方式，使得人為失誤的幾率增加。不少機構也未全面采納胎兒醫學基金會（FMF）的國際標準，檢查規范性與結果準確性難以保障。
These errors are often caused by inaccurate ultrasound measurements, incorrect biochemical test interpretation, or mistakes in entering data into risk-calculation software. Some clinics still use manual methods, increasing the chance of human error. Many do not follow international quality standards, such as those from the Fetal Medicine Foundation (FMF).
大量亞美尼亞健康孕婦被誤判為高風險群體。數據顯示，約80%至90%的羊水穿刺為非必需的。盡管該操作的并發癥風險不高（約為0.1%至0.3%），但仍無法完全避免流產等情況的發生。
Healthy pregnancies in Armenia are often misclassified as high-risk. According to recent data, 80 to 90 percent of amniocentesis procedures in Armenia turn out to be unnecessary. Even with a low statistical risk (0.1% to 0.3%) of complications ranging, amniocentesis carries a real threat of pregnancy loss.
無創產前篩查（NIPT）正是破解這一難題的關鍵手段。以華大基因推出的NIFTY?無創產前基因檢測為例，其靈敏度超過99%，能精準地識別風險，從而最大限度地減少不必要的侵入性操作，不僅大幅提升了篩查效率，更從源頭上緩解了孕婦及其家庭的心理負擔。
NIPT can solve this problem. It offers a much safer alternative. NIFTY from BGI Genomics claims sensitivity rates above 99%, it significantly improves early diagnosis. This helps reduce the number of invasive procedures and the emotional burden on families.
亞美尼亞每年約有4萬至4.5萬名新生兒，其中約有25至30名患有唐氏綜合征。在缺乏系統化社會支持與早期篩查機制的情況下，不少家庭不得不依賴國家提供的長期照護服務，不僅為患兒家庭帶來持續的情感和經濟壓力，也在不斷消耗公共醫療與社會資源。通過引入NIPT技術，能夠在孕早期實現高效、精準篩查，協助家庭做出更科學的決定，既提升家庭的福祉，又從源頭上緩解了社會醫療體系的負擔。
This is not just a healthcare issue. It is a public health investment. Armenia has about 40,000 to 45,000 births each year, of whom about 25 to 30 children are born with Down syndrome. Many of these children are eventually placed in long-term state care. This has a major emotional and financial impact—on families and on the government. By providing accurate and early diagnosis through NIPT, we can help families make informed decisions and reduce the need for long-term institutional care.
然而，NIPT的全面普及仍面臨嚴峻挑戰。對于偏遠地區或經濟困難的家庭，承擔基礎產檢已屬不易，更無力支付先進的無創檢測。只有在國家層面出臺政策并給予資金支持，才能打破這一困境，確保這項關鍵技術在母嬰健康領域充分發揮作用，助力國家邁向更加公平、更具溫度的全民健康保障體系。
Another concern is access. Many women in rural areas or from low-income households cannot afford even standard biochemical tests. NIPT, while more advanced, remains out of reach for most without state support. This creates inequality in access to essential care.
目前，NIPT正逐步在亞美尼亞推廣應用，當地實驗室不僅完成了本地化NIPT的研發應用，還積極推動醫務人員的專業培訓，幫助醫生們科學、規范地使用這項技術，獲得業內專家的一致好評。
We have already seen progress from local initiatives. Prom-Test Laboratories has not only introduced high-quality NIPT but also invested in educating doctors. They organize conferences and training sessions so healthcare providers understand how to use NIPT effectively and responsibly. This approach is widely supported by experts in the field.
從學校教育入手，我們應系統培養未來醫生的兩項核心素養：一是扎實的規范操作能力，二是深厚的人文關懷精神。這能確保他們在未來臨床中，不僅能為孕產婦提供高質量的檢查，更能給予她們專業且有溫度的全程支持。
At the university level, we do the same. Our curriculum prepares doctors to use both invasive and non-invasive tests appropriately and to support patients with compassion and clarity.
放眼全球，產前醫學正經歷一場深刻的無創化轉型。以全外顯子組測序（WES）為代表的高通量技術，正通過與NIPT的深度融合走向臨床。預計在未來十年內，這種更強大的篩查組合有望從前沿技術走向常規醫療，重塑產前篩查新格局。
Globally, prenatal care is moving toward non-invasive diagnostics. Technologies like Whole Exome Sequencing (WES), combined with advanced NIPT, are being tested and will likely become standard within the next decade.
亞美尼亞應抓住技術變革的契機，將NIPT納入國家醫保體系，不僅提升診斷能力，也讓更多家庭受益于現代醫學成果。
Armenia must not fall behind. Including NIPT in the state insurance system will bring us in line with international best practices. It will also improve diagnosis, and protect families from emotional and financial hardship. This is a medical issue, a social issue, and a moral issue.
每一個孩子都應擁有一個健康的起點，每一個家庭都值得被溫柔守護。普及NIPT，是政府以人為本、保障民生的重要一步。
Every child deserves a healthy start. Every family deserves access to the best care. By supporting NIPT, we can reduce suffering, improve healthcare efficiency, and show that Armenia is committed to the well-being of its people.
拓展閱讀
單基因病是由單個基因突變引發的遺傳性疾病，具有“發病率相對較高、產前篩查難度大、產后干預效果有限”等特點，長期以來是出生缺陷防控領域的重點與難點。無創產前檢測（NIPT）在保障孕婦安全的同時，為胎兒遺傳病的早期篩查提供了更科學、低風險的解決方案。
其中，NIFTY?是由華大基因自主研發的無創產前基因檢測產品，僅需抽取孕婦外周血，即可篩查包括唐氏綜合征在內的多種染色體異常。截至2025年6月，NIFTY?已為超過1,945萬人次提供檢測服務，助力全球數千萬家庭識別出生缺陷風險、守護新生命健康。
然而，在部分國家和地區，受制于經濟條件或政策保障不足，仍有大量孕婦難以獲得這一關鍵醫療服務。我們相信，通過匯聚社會各界的關注與力量，定能照亮無創產前篩查普及的前路，讓每一個新生命安全降臨。
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