Importance of Down’s Syndrome Screening
Date: May 21,2016 Read:
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Importance of Down’s Syndrome Screening
产前胎儿唐氏综合症筛查的重要性
Reposted from: Wechat of “gysyfwh” Author: Prenatal Diagnosis Dept. Dr. Chen Min
转载自：广州医科大学附属第三医院 作者：产前诊断科 陈敏
Down’s Syndrome is one of the most ubiquitous chromosomal diseases. Patients sustaining that disease, their nuclei carry one more No.21 chromosome than normal people, resulting in dysfunction and structural abnormality of multiple organs; And in retardation and innate heart-attack, etc. Because Down’s Syndrome is a birth defect incurred by chromosomal disease, there’s no medical or surgical solution for now.
唐氏综合征是最常见的染色体病之一。该疾病的患者的细胞核比正常人多出一条第21号染色体，导致多种器官结构和功能异常，包括弱智、先天性心脏病等。因唐氏综合征是染色体异常引起的出生缺陷，目前没有药物或手术治疗。
Down’s Syndrome patients can become a huge burden to pregnant women and their families, particularly in medical expense. Yet, the early screening of Down’s Syndrome during pregnancy is comparatively low. As more and more people start to plan for second child, the risk of Down’s Syndrome may rise for pregnant elder women. Thus, it’s significant for women to receive Down’s Syndrome screening prenatal period.
唐氏综合症人群对于孕妇、家庭和社会而言是很大的负担。照顾唐宝宝的一生，医疗机构和家庭所需要支付的费用非常巨大的。相较于唐氏综合症患儿的照顾，孕期早期筛查的成本相对较低当前。当前，“二孩”话题备受关注，高龄女性生育二孩面临更高的患病风险。因此，关注唐氏综合症的产前诊断对于高龄女性生育二孩而言意义重大。
Down’s Syndrome patients usually behave inert, slow growing, wide eyes, flat nostril, open-mouth, coherent palmar lines
唐氏综合症人群常出现弱智、发育迟缓、宽眼距、鼻梁低平、常张口弄舌、掌纹呈贯通等特征
Down’s Syndrome Screening, the sooner the better
从孕中期前移到孕早期，越早筛查越好
At the very beginning, Down’s Syndrome screening was taken in the middle stage of the pregnancy, then in the early stage. The screening samples pregnant women’s blood serum and generates an NT ultrasound to detect potential fetal Down’s Syndrome. The NT measurement is a key value to screen out Down’s Syndrome patients because most of their NT value increases in the early pregnancy period. There are 70% chance to find out Down’s Syndrome patients if pregnant women receive screening in the early stage.
最开始，唐氏筛查为中孕期筛查，随后前移至早孕期筛查。早孕期筛查利用孕妇血清相关指标，结合超声测量胎儿的颈后透明层厚度进行筛查。可以较有效地发现唐氏综合征。因为相当多的唐氏综合征的患者在早孕期就可能表现为NT的增厚，结合NT增厚并孕妇年龄等综合分析，可以达到70%的检出率。
As the ultrasound technology develops, more and more patients’ cases reveal that the features of Down’s Syndrome patients match with the those in the ultrasound test in the middle stage of pregnancy, such as the similar facial features, NT measurement and aberrant subclavicular cardio artery, etc.
随着超声技术的进步，发现唐氏的宝宝出生后表现的特点：面部特征、颈部皮肤增厚、心脏锁骨下动脉迷走等问题，可以在中孕期的超声中得到有效的提示，因此这些特点也被称为中孕期超声筛查的软指标。
Non-invasive DNA Test
唐氏筛查最新技术：无创DNA检测
For the recent years, many hospitals and DNA testing institutes are developing this method to better screen Down’s Syndrome. All it needs is a simple blood taking from pregnant mom.
最近几年，很多基因检测机构，都在开发无创DNA检测方法，来进行高效筛查。无创DNA检测通过抽母亲的血，直接筛查胎儿的DNA判断是否存在染色体异常。
Although prenatal check-up technology keeps developing, there’s technical bottleneck. For instance, DNA test can be applied to twins but not yet in triple. There’s still a long way ahead for the development of prenatal check-up technology.
产前诊断的技术不断在更新，但也仍面临局限，比如，目前，双胞胎已经可以实现无创DNA检测，但是三胞胎还不能实现无创DNA检测。未来，产前诊断还有更长远的路要走。
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