流
“唐氏筛查高风险，生出的宝宝一定有问题！”
前天是“世界唐氏综合征日”，有些妈妈在看到唐氏筛查为高风险时，认为将来宝宝出生后肯定有问题。
言
流言分析
这种说法很不严谨。
有部分孕妈唐筛显示高风险，但并不意味着宝宝一定有问题，它仅仅只是说明胎儿患有唐氏综合征的风险增高，需要继续观察或进一步的检查。
唐氏综合征，又称 21 三体综合征，是最常见的一种染色体疾病，是因为多出的一条 21 号染色体所致，可能引起一系列的身体和智力发展问题。
唐氏综合征患者存在严重、不可逆的智力障碍，生活不能自理，长期需要人照顾，常被称为“唐氏儿”“唐宝宝”。唐氏综合征的发生率为 1/800～1/600，由于
唐氏综合征是最常见的遗传异常之一，及早识别高风险个体是至关重要的。
产前筛查和产前诊断是预防唐氏综合征的有效方法。
唐氏筛查（简称唐筛）是一项关键的孕期测试，用于评估胎儿是否有患上唐氏综合征或其他染色体异常的风险，如 18 三体（Edwards 综合征）。
那么唐筛提示“高风险”，胎儿一定就有问题吗？
唐筛高风险
胎儿一定有问题？
先说结论，
部分孕妇唐筛显示高风险，并不意味着宝宝一定有问题
。唐筛的结果是基于数据分析得出，只是
提示一定的可能性，并不是确诊报告。
所谓的“高风险”结果，仅意味着与一般人群相比，孕妇怀有“唐宝宝”的概率更高。这一评估结果通常以比率（如 1:100）的形式呈现，并不是染色体异常的确诊。
唐筛只是一种筛查方法，不是诊断报告。
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简单地说就是唐筛的结果会受到孕妇年龄、怀孕周数和血液中特定标志物水平等多种因素影响，从而出现一定的偏差。因此，
面对高风险结果，最合理的步骤是进行进一步的检查
，以确认是否真的存在染色体问题。
其实许多唐筛结果为高风险的胎儿，通过进一步的检查都能够排除相关风险的，出生后也并不携带任何染色体异常，因此查出来“高风险”不必过度焦虑。
唐筛结果通过了就没事？
有些人可能会觉得，自己唐筛结果通过了，孩子就没事。唐筛结果通过表示胎儿患有染色体异常的可能性较低，但
并非完全排除所有风险。
唐筛是一种预筛查，并非确诊手段，所以即便结果显示“低风险”，也不意味着完全没有风险。"低风险"结果意味着相对于设定的风险阈值（如 1:270），胎儿患病的可能性较小。
然而，在少数情况下，即使唐筛显示低风险，后续的检查（如大排畸检查）仍然有可能发现异常，这时多需要进一步的诊断检测，如羊水穿刺，以确诊是否真的存在染色体异常。
第一次唐筛结果不好
换个大医院再做一次会更准确?
重做唐筛并转至更大的医院，未必能提供更准确的结果。唐筛的准确性受多种因素影响，而非仅与检测地点有关。
由于重做测试依旧采用相同的生化标志物和计算方法，重复测试不一定能带来更精确的结果。
所以，如果初次唐筛结果提示高风险，建议进行更深入的诊断性检测，而不是简单地重复唐筛。重复测试可能只会微小提升检出率，并可能导致一些实际高风险的妊娠被误判为低风险，从而错失进一步诊断的机会。
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唐氏筛查
检查出高风险怎么办？
当面对唐氏筛查的高风险结果时，
保持冷静
是首要之务。虽然这种结果可能引起担忧，但它并不代表已确诊。
通常，医生会基于您的情况推荐
进一步检测
，以获得更准确的诊断
。这些检测包括非侵入性产前检测（NIPT），它通过分析孕妇血液中的胎儿 DNA 进行风险评估，虽然准确度较高，但仍属于筛查测试。
另外，侵入性诊断检测如羊水穿刺或绒毛活检，能够提供确诊结果。
建议大家在进行这些检测之前，
进行遗传咨询以理解检测意义和可能的后果。
另外，此期间获得心理支持同样重要，它可以帮助您应对等待结果期间的不确定性，缓解焦虑。
照“谣”镜
所谓关心则乱，孕妈妈都特别关心宝宝的健康，任何检查只要有一点点不对，就会惴惴不安。这种心情可以理解，咱们可以多了解一下相关的知识，理解筛查只是应用快速、简便的检验、检查手段发现可能的问题，之后还要有更精准的诊断性检查才能进一步作出结论。很多情况下筛查时有风险，进一步检查会排除这种风险，因此咱们先放平心态，遵医嘱做做进一步检查，根据结果再做打算。
参考文献
[1] UpToDate：唐氏综合征：产前筛查概述。
[2] Norton ME, Jelliffe-Pawlowski LL, Currier RJ. Chromosome abnormalities detected by current prenatal screening and noninvasive prenatal testing. Obstet Gynecol. 2014 Nov;124(5):979-986. doi: 10.1097/AOG.0000000000000452. PMID: 25437727.
[3] Hackshaw AK, Wald NJ. Repeat testing in antenatal screening for Down syndrome using dimeric inhibin-A in combination with other maternal serum markers. Prenat Diagn. 2001 Jan;21(1):58-61. PMID: 11180243.
策划制作
丨翁若鹏 浙江大学附属妇产科医院主治医师
审核丨兰义兵 浙江大学医院附属妇产科医院副主任医师
丨王梦如
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