挑战“缺陷” 探访国内首家出生缺陷监测中心 challenge"defect" Visit the first domestic birth defects monitoring center

　　我国出生缺陷发生率约为5.6%，每年新增出生缺陷数约90万例，其中出生时临床明显可见的出生缺陷约有25万例。

The incidence of birth defects in our country is about 5.6%,New Year birth defects number about 900000 cases,Which were born clinical the obvious birth defects about 250000 cases.

　　

中心档案 Center files

　　1988年 1月14日，中国出生缺陷监测领域唯一的国家级技术中心——中国出生缺陷监测中心在四川成都华西第二医院成立。创建人肖坤则教授担纲第一任主任。

On January 14, 1988,China's birth defects monitoring field the only state-level technology center - China's birth defects monitoring center in chengdu in sichuan province, west China hospital established the second.Founder XiaoKunZe professor play the first director.

　　9月12日，卫生部发布 《中国出生缺陷防治报告(2012)》。

On September 12,,The ministry of health issued [China's birth defects prevention report(2012)].

　　这是建国来我国首次发布出生缺陷“白皮书”，其中数据便来自华西第二医院中国出生缺陷监测中心。这份报告凝聚了该中心3代专家20多年的心血。

This is the foundation to the country for the first time issued birth defects"White paper",The data come from west China the second hospital Chinese birth defects monitoring center.The report condensed the center 3 generation of expert more than 20 years of painstaking effort.

　　近日，天府早报记者探访这个关系着千家万户却又鲜为人知的出生缺陷监测中心。

recently,Tianfu morning paper reporter visits the relationship with thousands of households yet little-known birth defects monitoring center.

　　我们最大的愿望是，未来的中国不再有残疾和患病的孩子出生，中国不再有被这样的孩子拖累致贫的家庭。”

Our biggest wish is to,The future of China no longer has a defect and sick child was born,China is no longer be such children drag poor family."

　　——中国出生缺陷监测中心主任朱军

-- China's birth defects monitoring anchorman, director of the center

　　

盲点 30年前无人能“答题” Blind spot 30 years ago, no one can"answer"

　　1981年，原华西医科大学从事医学遗传学研究的肖坤则教授偶然发现了一个手带蹼(医学称“并指”)家族——这个家庭3代10人中，有7个人的手指带蹼。肖教授确认，这是典型的遗传疾病。

In 1981,,Former huanan west medical university is engaged in medical genetics research XiaoKunZe professor accidentally discovered a hand with fins(Medical says"And refers to")Family - the family of three generations of 10,There are 7 individual fingers with fins.Professor xiao is confirmed,This is typical of genetic diseases.

　　目睹这家人生活窘迫却又无钱医治的无奈，她萌生了群体性遗传研究的想法。随后不久，一次全国妇幼工作会议上，一位领导问：“我国每年有多少畸形儿童降生？”在场的所有专家竟然没有一个能够回答，这更坚定了肖坤则教授的想法：中国出生缺陷监控制度亟待建立。

Witness the family life distress, but no money but healing,She initiation of the group genetic research ideas.Soon afterwards,A national work conference on women,A leading asked:"Every year in our country how many deformity children was born?"The presence of all the experts unexpectedly has no one to answer,This strengthened the idea of XiaoKunZe professor:China's birth defects monitoring system urgently need to establish.

　　在肖坤则等专家的带动和努力下，1988年1月14日，经卫生部批准，中国出生缺陷监测领域唯一的国家级技术中心——中国出生缺陷监测中心在华西第二医院成立，创建人肖坤则教授担纲第一任主任。

In XiaoKunZe experts such as the driving and efforts,On January 14, 1988,The approval of the ministry of health,China's birth defects monitoring field the only state-level technology center - China's birth defects monitoring center in west China the second hospital was established,Founder XiaoKunZe professor play the first director.

　　

建档 20余年艰辛填补空白 Filing more than 20 years hard to fill in the blanks

　　在华西第二医院科研大楼五楼一隅，穿过一条不长的走廊，中国出生缺陷监测中心安静地坐落在走廊尽头，两边墙上挂着各种学术交流和领导视察的照片，大门右上方挂着的牌子上写着：中国出生缺陷监测中心。

In the second, west China hospital scientific research building corner on the fifth floor,Through a not long corridor,China's birth defects monitoring center quietly located at the end of the corridor,Hanging on the wall on both sides of the various academic communication and leadership inspection the photos,At the gate hanging the sign:China's birth defects monitoring center.

　　这是一间近100平米的大办公室，偌大的办公室只有寥寥数人，显得格外空旷。“大多数人都下去了，无论何时何地，只要接到下面传来有出生缺陷的信息，我们的人随时出发。”中国出生缺陷监测中心现任主任朱军教授告诉记者。

This is a nearly 100 square meter big office,So big office only a few people,Was extraordinarily open."Most people are down,No matter when and where,As long as received from below a birth defect information,Our people start at any time."China's birth defects monitoring center incumbent director professor anchorman told reporters.

　　办公室靠墙的一溜桌子上，整整齐齐密密麻麻重重叠叠地挤满卷宗袋：浙江、黑龙江、河南、安徽、江苏、广西、湖南……每一本卷宗袋的侧面，都有着工整的手写地名，“这些只是一部分卷宗，大部分卷宗都在仓库。”具体有多少卷宗，朱军教授也无法准确描述，只知道，5间20多平米的仓库已堆放得满满当当。

Office against the wall slip away the table,In apple-pie order thickly dotted layer after layer to full file bag:zhejiang/heilongjiang/henan/anhui/jiangsu/guangxi/Hunan...Each side of the file bag,All have copperplate handwritten place name,"These are only part of the file,Most of the file in the warehouse."Specific how many volume,Professor anchorman cannot accurately describe,Only know,Between 5 more than 20 square meters warehouse has piled up full to the brim.

　　20多年时间里，中心的20余名专业人员从事着艰苦的基础工作。东起浙江奉化，西至新疆疏勒，南抵海南三亚，北到黑龙江五大连池，足迹遍全国，编写出国内第一部《中国出生缺陷图谱》，填补了我国出生缺陷诊断史料的空白。

For more than 20 years time,The center, more than 20 experienced professionals engaged in hard foundation work.East to the zhejiang fenghua,West to xinjiang shule,South to hainan sanya,North to heilongjiang five dalian pool,Footprints all over the country,Write out the domestic first part[China's birth defect map],Fill in the blank of birth defects diagnosis historical data.

　　

采样 3万余份样本中找基因 More than 30000 samples of sampling find gene

　　在中国出生缺陷中心实验室，有一套目前国内最先进的标本储备管理系统。8台由计算机控制的恒温冰箱里，储藏着珍贵的血样和标本，分为核心家系(父母与病小孩)、病理对照(正常人和病人)、大家系。工作人员只要输入标本条码，就能从3万余份血样和标本中找到目标样本。

In China's birth defects central laboratory,Has a set of the present domestic most advanced specimen reserves management system.8 sets of thermostatic controlled by computer in the refrigerator,In store for precious blood and specimen,Divided into core family(Parents and children disease)/Pathological control(Normal subjects and patients)/Everyone is.Staff as long as the input samples bar code,Can a blood sample from more than 30000 specimens and find target sample.

　　在3万多份血样和标本中，那150份大家系血样标本对中心来说显得格外珍贵。“大家系是我国独有的资源，从大家系中寻找遗传病治病基因的机会要大很多，只要研究出病因，就能找出预防手段。”朱军教授说：但现在大家系在逐渐缩小，保护大家系的血样和标本就成了中心的当务之急。

In the more than 30000 copies of blood and the specimen,The 150 copies of all system blood specimens of center it is more precious."Everybody system is China's unique resources,From your system for genetic disease cure genetic chance to big many,As long as the research out of the cause,Can find out the preventive measures."Said professor anchorman:But now everybody system is gradually diminishing,Protect everyone in the department of blood and specimen becomes the urgent matter of the center.

　　从事基础研究的邓莹博士告诉记者，她的工作就是在这些样本中寻找出生缺陷的治病基因，这些年来，“我们已经陆续发现一些致病基因。”

Engaged in basic research DengYing doctor told reporters,Her job is in these samples for birth defects of the cure gene,Over the years,"We have been found some pathogenic gene."

　　一些导致出生缺陷的因素随后得到有效干预——2012年开始，新农合逐步将血友病、唇腭裂等纳入重大疾病保障试点范围；2012年，针对广西、海南、云南等地区地中海贫血高发情况，卫生部启动实施了地中海贫血防控试点项目，大力推广孕前筛查、产前诊断等综合防控措施……

Some lead to birth defects factors then get effective intervention - 2012 start,New farmers close gradually will hemophilia/Cleft lip and palate, etc into major disease security pilot range;In 2012,,In guangxi/hainan/Yunnan and other regions Mediterranean anemia high-risk situation,The ministry of health start implementing the Mediterranean anemia prevention and control pilot project,Promoting pregnant screening/Prenatal diagnosis and comprehensive prevention and control measures...

　　

特写>>> feature>>>

　　

千里奔波采血样守着冰箱不敢睡觉 The blood travels by keep the refrigerator can't sleep

　　30多岁的邓莹对血样标本采集的艰辛至今记忆犹新。

More than 30 years to DengYing blood specimen collection of hard favorite memories.

　　2007年春节刚过，中国出生缺陷中心接到河南某医院医生打来的电话，称收到一名50多岁的患者，浑身脓疮，切了又长，不断反复，病人告诉医生，家中还有人有相同症状。当地医生诊断为多发性皮脂腺囊肿，这是一种遗传病，遗传正是出生缺陷之一。

In 2007, just after the Spring Festival,China's birth defects from henan center a hospital doctor telephone call,Say received a more than 50 years old of the patients,All over abscess,Cut and long,Constantly repeated,The patient told the doctor,Home and others have the same symptoms.The local doctors diagnosed with multiple sebaceous glands cyst,This is a genetic disease,Inheritance is one of birth defects.

　　邓莹和20岁的李明蓉奉命立即出发，两个女孩子带着可以装80个血样的手提冰箱、冰袋、一次性注射器、真空采血管、调查表等一大堆工作用具，上午10点飞抵郑州，然后又坐中巴到鹤壁市，病人和家属开着一辆邓莹她们至今叫不出名字的四轮货车接到她们，11点到县上，病人的家还在乡下，货车开不过去，又换乘拖拉机，下午1点过总算颠簸到了患者家中。“到了才晓得这个家系有50多个人，这血样对我们来说太珍贵了！这样集体发病的大家系已经很少！”两个女孩来不及休息立即开始采集血样，一直忙碌到下午5点过。有人告诉他们，家族里还有一个30多岁的弟弟没来，他因为同样的病已经严重感染不能下地。“血样必须尽量采集完整。”邓莹和李明蓉又带上她们的设备，再次爬上拖拉机，晚上8点总算颠簸到了病人家中，立即就着昏暗的灯光采集了血样。

DengYing and 20 years of age, LiMingRong was ordered to set out immediately,The two girls with can hold 80 a blood sample portable refrigerator/Ice packs/Disposable syringe/vacutainer/Questionnaires and a lot of work equipment,10 o 'clock in the morning to zhengzhou,Then sit pak-china to hebi city,Patients and their relatives on a car DengYing since they call out the name of four-wheel trucks received them,11 points to the XianShang,The patient's home is in the countryside,Truck can not open the past,And transfer tractor,1 PM after finally turbulence to patients at home."Only to know that this family has more than 50 people,This blood samples for us is too dear!Such collective pathogenetic everybody system has rarely!"Two girls too late to rest immediately start collecting blood samples,Have been busy until 5 p.m. over.Some people tell their,The family have a more than 30 year old brother didn't come,He for the same disease has been serious infection can't the earth."Blood must try to complete collection."DengYing and LiMingRong and take their equipment,To climb up the tractor,8 PM finally jolt to patient's home,Immediately the dim light collected blood samples.

　　晚上11点过，两个女孩抱着血样住进村上的小旅馆，小冰箱接上电源才发现，这里的电压极不稳定，随时跳闸，而冰箱的温度必须保持恒温。邓莹和李明蓉不敢睡觉了，两人守着冰箱，一跳闸就跑到门外拉闸……“研究和临床不一样，带有探索性，很曲折，很漫长。”邓莹说，自己感到骄傲的是，实验室已经根据采集到的血样和标本，发现了一些出生缺陷的致病基因。(记者 杨丹 摄影 方炜)

After 11 PM,Two girls hold blood into the village to live in a small hotel,Small refrigerator connected to the power source discovered,The voltage is unstable,Always trip,And refrigerator temperature must be kept constant temperature.DengYing and LiMingRong dare not sleep,Two people keep the refrigerator,A trip is run to the outside of the door switch out..."Research and clinical is not the same,With exploratory,Very twists and turns,A long."DengYing said,Feel very proud of myself is,The laboratory has according to the collected blood samples and specimen,Found some birth defects of virulence genes.(Reporter Yang photography FangHui)

　　

出生缺陷 Birth defects

　　出生缺陷通常包括先天畸形、染色体异常、遗传代谢性疾病、功能异常如盲、聋和智力障碍等。目前已知的至 少 有 8000-10000种，先天性心脏病、多指(趾)、唇裂伴或不伴腭裂、神经管缺陷、先天性脑积水等10类疾病是我国围产儿前10位的高发畸形。

Birth defects often include congenital malformation/Chromosome abnormality/Genetic metabolic disease/Dysfunction such as blind/Deafness and mental retardation, etc.At present known to have less 8000-10000,Congenital heart disease/Many refers to(toe)/Cleft lip with or not with cleft palate/Neural tube defects/Congenital hydrocephalus, and other 10 diseases is our country perinatal infants dead before ten high-risk deformity.

　　

出生缺陷监测 Birth defects monitoring

　　指长期、连续、系统地收集某一人群中出生缺陷的相关资料，并对收集的资料进行整理、分析、反馈和利用的过程。通过监测，可获得国家或地区出生缺陷的患病水平、及时识别出生缺陷患病率的异常变化、提供出生缺陷的分布特征及有关危险因素线索，为相关卫生政策制订、医疗卫生资源分配提供依据。(杨丹)

Refers to the long-term/continuous/System to collect a crowd of birth defects related material,And the collection of data sorting/analysis/Feedback and use process.Through the monitoring,Can obtain countries or regions birth defects of the disease level/Timely recognition birth defect prevalence of abnormal changes/Provide the distribution features of the birth defects and the relevant risk factors clues,For related health policies/Medical and health resources allocation to provide basis.(Yang)