从新疆抵京的飞机上走下，“80后”博士梁峻彬给心里的地址栏又打上了一个“对勾”。他是安诺优达首席科技官，一年来，四川、陕西、山东、新疆，带着“无创产前DNA检测”的技术研发报告，在全国各地主流医院、同行间做了一圈交流后，遍布东西南北的各个城市纷纷向他发来了合作意向。不用穿刺、抽一管血就能筛查出“唐宝宝”，安诺优达今年7月刚刚攻克的“无创产前DNA检测”技术，目前已经在北京、山东、广东等地的多家医院临床应用中成功落地。

A regular briefing from xinjiang on the plane went down,"After 80"Doctor LiangJunBin to heart the address bar and hit a"To hook".He is the chief technology officer of Solomon's best,A year,sichuan/shaanxi/shandong/xinjiang,with"Non-invasive prenatal DNA testing"The technical research and development report,Throughout the mainstream hospital/TongHangJian made a circle after communication,In the thing north and south the cities have to he sent the cooperation intention.Don't puncture/Smoke a pipe blood can screening out"TangBaoBao",Optimal walcott to July this year just today"Non-invasive prenatal DNA testing"technology,At present already in Beijing/shandong/Guangdong, the number of hospitals in the clinical application of successful landing.

　　“终于确定宝宝没事了！”拿到显示腹中胎儿健康的检测报告，张女士长舒了一口气。当半个月前被筛查出“唐氏综合征高危”后，原本要羊水穿刺进行确诊、休养、等待约1个月才能拿到结果的漫长过程，被一次简单的静脉抽血代替了。

"Finally sure baby fine!"To show abdomen fetal health inspection report,Ms. Zhang long sighs.When half a month ago by screening out"Down's syndrome risk"after,Originally to amniotic fluid biopsy diagnosis/rest/Wait for about a month to get the results of the long process,Be a simple venous blood instead.

　　从抽血到拿到“无创产前DNA检测”报告，整个过程仅仅用了10天。提供这一技术的，是位于北京经济技术开发区一家年轻的基因科技公司安诺优达。

From the blood to get"Non-invasive prenatal DNA testing"The report,The whole process in just ten days.Provide the technology,Is located in Beijing economic and technological development zone a young gene technology company to Solomon's best.

　　作为诊断胎儿是否患有唐氏综合征的主流方法，羊水穿刺存在1%左右流产或宫内感染的风险。“我年龄不小了，实在没法承受孩子有任何一点风险。”33岁的张女士说，“后来听说有一种技术不用给肚子扎针，只要从胳膊上抽一管血就能检测，跟体检抽血一样，还能避免流产的风险，我和老公高兴坏了。”

As in the diagnosis of fetal with down's syndrome is the mainstream of the method,Amniotic fluid puncture exist 1% abortion or in the risk of infection."I age a lot,Just can't bear children any risk."At the age of 33 ms. Zhang said,"Later heard that there is a technical need not to belly needle,As long as the arm from smoke a pipe blood can detection,As with medical blood,Also can avoid the risk of miscarriage,My husband and I pleased bad."

　　羊水能检测胎儿的细胞染色体尚不稀奇，但从母亲胳膊上抽血，也能准确检测出来吗？

Amniotic fluid to detect fetal cell chromosome is not rare,But in the mother's blood on his arm,Also can be accurately detected?

　　原来，早在20多年前科学界就已发现，孕妇的外周血中存在胎儿的游离DNA。“通过孕妇外周血测验胎儿是否异常存在一个很大的难点，就是如何通过生物信息手段，从海量的DNA碎片中提取有用信息。”梁峻彬解释说。

The original,As far back as years ago, the scientific community has been found,The existing in peripheral blood of pregnant women of the baby's free DNA."Through the pregnant women peripheral blood test the fetus is abnormal there is a big difficulty,Is how to through the biological information means,From the mass of DNA fragments to extract useful information."LiangJunBin explained.

　　在安诺优达的临检实验室里，通过离心将血浆从孕妇的血液中分离出来后，技术人员首先用测序仪对血浆中的DNA片段进行读取，再将读取出的序列信息与人类基因组计划中的参考基因组进行比对。

In the optimization of Solomon's visit in the laboratory,Through the centrifugal will plasma from the blood of pregnant women is separated,Technical personnel the sequencing instrument for plasma of DNA fragments read,Will be read out to the sequence of the human genome project information and the reference in comparing the genome.

　　“唐氏综合征患者的特征是21号染色体比正常人多出一条，那么我们只要能确定序列中多出的DNA片段是否来自21号染色体，信号是否足够反映异常就可以了。”梁峻彬说。

"Patients with down's syndrome is characterized by the 21st chromosome than normal more than a,So if we can determine the sequence of DNA fragments from 21 if chromosome,Signal will be enough to reflect the anomaly is ok."LiangJunBin said.

　　听起来并不复杂的原理，在技术研发阶段却是困难重重。

That doesn't sound complicated principle,In the technology research and development stage is difficult.

　　最初，在基因序列的比对阶段，梁峻彬团队采用的是国外的比对软件。然而半个多月的测试后他们发现，这种最初用于学术研究的软件计算周期太长，不适合大量临床样本的应用研究。

first,In the gene sequence comparison stage,LiangJunBin team by foreign than software.But for more than half a month after they found that test,The first used in academic research software calculation period is too long,Not suitable for a large number of clinical sample application research.

　　“一次分析过程要用4个半小时，要经历上千次的模型和算法调整的我们，等不起这样的分析速度，这也满足不了我们对临床分析效率的要求。”由于市场上尚未有针对产前基因组临床应用的专业软件和标准流程，梁峻彬团队决定自己开发。

"An analysis process to use four and a half hours,Thousands of times to go through the adjustment of the model and algorithm we,Afford to wait such analysis speed,It also can't satisfy the requirements of clinical analysis efficiency."Because the market has yet to prenatal genome clinical application of professional software and standard procedure,LiangJunBin team to determine their own development.

　　这时，研发团队的人才“跨界”起到了作用。在15人的核心研发团队中，包括多次参加国际大型基因研究项目的生物技术人才，有从美国知名统计应用公司和法国著名研究所回国创业的成员，还有从事软件开发的计算机高手。

At this time,Research and development team of talents"cross-border"Played a role.In the 15 people in the core of the research and development team,Including many times to participate in international large gene research project biological technology talented person,From the famous American statistical application companies and famous French institute to members of the business,Have engaged in software development computer geeks.

　　半个月后，几个人废寝忘食的工作换来了收获。由他们自主开发的这个比对算法，只需15分钟就能完成原先4个半小时的分析工作。

After half month,A few people forget oneself work for harvest.By their independent development of the comparison algorithm,Only 15 minutes to complete the original four and a half hours of analysis.

　　然而，做好比对流程并没有“毕其功于一役”。在实验中，体内胎儿DNA浓度不同、计算模型的选择不同，这些都会影响实验结果。为了研究出适合不同孕周孕妇的科学算法，梁峻彬和团队成员又没日没夜地干了3个月。

however,Do comparison process and no"time".In the experiment,Fetal DNA in different concentration/The choice of calculation model is different,These will influence the experimental results.In order to study the suitable for different gestational weeks pregnant women scientific algorithm,LiangJunBin and team members and no day and night out for three months.

　　“一周总有两三天要熬通宵，每一天都要总结当天的实验优化和信息开发流程有何得失，明天又该怎样改进。但是当时工作得很亢奋，半夜困了就趴着休息一会儿，醒来又继续团队讨论。”提起那段技术研发经历，梁峻彬仍有些兴奋。

"There are always two or three days a week to sit up all night,Every day should summarize the experiment optimization and information development process have any gain and loss,Tomorrow and how to improve.But the work very excited,Midnight sleepy will lay prone to rest for a while,Wake up and continue to group discussion."Mention that technology research and development experience,LiangJunBin still some excited.

　　今年4月成立并开始研发工作的安诺优达，用3个月时间完成了无创产前DNA检测技术的研发和验证工作，并积累了数千例与现有检测方法的临床对比案例。目前，除了已与全国数家知名医院签订合作协议外，梁峻彬的团队又开始了针对特殊群体——双胞胎孕妇的无创产前DNA检测。(实习记者 孙奇茹)

Founded in April this year and began to research the optimal of Solomon,3 months time to complete on prenatal and DNA testing technology research and development and validation,And accumulated for thousands of cases and current detection method of clinical comparative case.At present,In addition to the already and a number of renowned hospital outside a cooperation agreement,LiangJunBin team began to special groups - twins pregnant women, non-invasive prenatal DNA testing.(SunJiRu practice reporter)