Karine H. Tokhunts博士，亚美尼亚埃里温国立医科大学超声诊断学课程教授
在亚美尼亚，受限于落后的风险评估和诊断体系，高达九成的羊水穿刺为非必要的，许多孕妇被迫接受了侵入性检查，无端承担了身体与经济的双重压力。
针对这一现状，埃里温国立医科大学教授、亚美尼亚妇产超声协会主席 Karine Tokhunts 博士发表署名文章呼吁：应尽快将无创产前筛查（NIPT）纳入国家医保，作为常规产检项目，让更多准妈妈安心孕育。（以下中文部分为署名文章英文对照翻译，供读者参考。）
亚美尼亚应将NIPT纳入国家医保体系
每个婴儿的健康降临，都牵动着整个家庭的幸福与未来。为切实提升亚美尼亚的母婴健康水平，将先进的无创产前基因检测（NIPT）纳入国家医保体系刻不容缓。
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具有极高的灵敏度和特异性，能够准确识别包括唐氏综合征（21三体）、爱德华综合征（18三体）和帕陶氏综合征（13三体）等常见染色体异常。相较于羊水穿刺等侵入性检查，NIPT更加安全可靠，不会对胎儿造成伤害。
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.
埃里温国立医科大学非常重视医生在产前诊断方面的专业训练。课程不仅教授如何科学选择筛查方式，更强调医生与孕妇之间的有效沟通。
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.
然而在亚美尼亚，目前临床上仍主要依赖传统的羊水穿刺技术。这导致许多孕妇因担心侵入性操作而放弃产前检测；与此同时，也有部分孕妇因风险评估不够精准，被引导接受了本不必要的穿刺检查，从而承受了不必要的风险与经济负担。
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.
造成这些问题的原因有许多，如超声波测量不准确、生化指标解读失误，甚至可能是筛查系统中数据录入出错。有些诊所仍采用人工记录的方式，使得人为失误的几率增加。不少机构也未全面采纳胎儿医学基金会（FMF）的国际标准，检查规范性与结果准确性难以保障。
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).
大量亚美尼亚健康孕妇被误判为高风险群体。数据显示，约80%至90%的羊水穿刺为非必需的。尽管该操作的并发症风险不高（约为0.1%至0.3%），但仍无法完全避免流产等情况的发生。
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.
无创产前筛查（NIPT）正是破解这一难题的关键手段。以华大基因推出的NIFTY®无创产前基因检测为例，其灵敏度超过99%，能精准地识别风险，从而最大限度地减少不必要的侵入性操作，不仅大幅提升了筛查效率，更从源头上缓解了孕妇及其家庭的心理负担。
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.
亚美尼亚每年约有4万至4.5万名新生儿，其中约有25至30名患有唐氏综合征。在缺乏系统化社会支持与早期筛查机制的情况下，不少家庭不得不依赖国家提供的长期照护服务，不仅为患儿家庭带来持续的情感和经济压力，也在不断消耗公共医疗与社会资源。通过引入NIPT技术，能够在孕早期实现高效、精准筛查，协助家庭做出更科学的决定，既提升家庭的福祉，又从源头上缓解了社会医疗体系的负担。
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的全面普及仍面临严峻挑战。对于偏远地区或经济困难的家庭，承担基础产检已属不易，更无力支付先进的无创检测。只有在国家层面出台政策并给予资金支持，才能打破这一困境，确保这项关键技术在母婴健康领域充分发挥作用，助力国家迈向更加公平、更具温度的全民健康保障体系。
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正逐步在亚美尼亚推广应用，当地实验室不仅完成了本地化NIPT的研发应用，还积极推动医务人员的专业培训，帮助医生们科学、规范地使用这项技术，获得业内专家的一致好评。
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.
从学校教育入手，我们应系统培养未来医生的两项核心素养：一是扎实的规范操作能力，二是深厚的人文关怀精神。这能确保他们在未来临床中，不仅能为孕产妇提供高质量的检查，更能给予她们专业且有温度的全程支持。
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，产前医学正经历一场深刻的无创化转型。以全外显子组测序（WES）为代表的高通量技术，正通过与NIPT的深度融合走向临床。预计在未来十年内，这种更强大的筛查组合有望从前沿技术走向常规医疗，重塑产前筛查新格局。
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.
亚美尼亚应抓住技术变革的契机，将NIPT纳入国家医保体系，不仅提升诊断能力，也让更多家庭受益于现代医学成果。
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.
每一个孩子都应拥有一个健康的起点，每一个家庭都值得被温柔守护。普及NIPT，是政府以人为本、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.
拓展阅读
单基因病是由单个基因突变引发的遗传性疾病，具有“发病率相对较高、产前筛查难度大、产后干预效果有限”等特点，长期以来是出生缺陷防控领域的重点与难点。无创产前检测（NIPT）在保障孕妇安全的同时，为胎儿遗传病的早期筛查提供了更科学、低风险的解决方案。
其中，NIFTY®是由华大基因自主研发的无创产前基因检测产品，仅需抽取孕妇外周血，即可筛查包括唐氏综合征在内的多种染色体异常。截至2025年6月，NIFTY®已为超过1,945万人次提供检测服务，助力全球数千万家庭识别出生缺陷风险、守护新生命健康。
然而，在部分国家和地区，受制于经济条件或政策保障不足，仍有大量孕妇难以获得这一关键医疗服务。我们相信，通过汇聚社会各界的关注与力量，定能照亮无创产前筛查普及的前路，让每一个新生命安全降临。
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