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1、专家笔谈 The prospect and current situation of prenatal diagnosis in mainland China Bin WANG (Department of Maternal and Children Health & Community Health,Ministry of Health People s Republic of China, Beijing 100044, China) KEY WORDS Prenatal diagnosis; Genetic Services; Quality control; Total quality
2、 management; China 1 The history and main problems in prenatal diagnosis and clinical diagnosis of inherited diseases Prenatal diagnosis is to diagnose the fetal congenital defects and inherited diseases. In the earlier 1970s,the group of prenatal diagnosis in Peking Union Hospital was founded by Dr
3、. Qiao-zhi LIN. Meanwhile,under the lead- ership of Dr. LIN,the group successfully completed the culture of amniotic fluid cells and began to diagnose fetal chromosomal diseases in the second trimester of pregnancy. In 1988,they succeeded in diagnosing chromosomal diseases by taking the chorionic vi
4、llus in the early pregnancy. Since then,the genetic and prenatal counseling to those women who previously had children with severe defects were gradually developed. The work of the Peking U- nion Hospital developed prenatal diagnosis in our country. In 1990s,due to the unsettled problems about the p
5、osi- tion of technicians in prenatal and genetic disease diagnosis in medical institutions,the falling behind of standard training,the lost of person with proper ability,and the lack of standard criteria for some highly difficult techniques such as culturing amniotic fluid cell, the chorionic villus
6、 sampling, clinical diagnosis of chromosomal and genetic diseases,medical friction appeared in some regions. At the same time,this type of clinical service,with difficult technique and high risk,is short of law protection,which reduced the enthusiasm of advanced clinical service. In the whole countr
7、y,there is a shortage of persons with ability and clinical mature techniques. The Standardized crite- ria universally used in developed countries were not introduced to our country in time. The above factors leaded to the lag-off on prenatal and genetic disease diagnosis in clinical service. In 2001
8、,Ministry of Health conducted a national survey on the current situation. Health Bureaus in 13 prov- inces, municipalities, and cities took administrative inspection and approval on prenatal diagnostic or genetic disease diagnostic centers. There were 13 provincial prenatal diagnostic centers,3 prov
9、incial genetic disease diagnostic centers, 12 territorial prenatal diagnostic centers ( located in Liaoning and Zhejiang province. )The main prenatal diagnostic service offered by these centers include:genetic counseling,cytogenetic testing,molecular genetic tes- ting,biochemistry and immune testing
10、 and ultrasonic examination,etc. The main target diseases in these centers are:certain chromosomal diseases, neural tube defects, a few inherited diseases and genetic diseases and so on. The difference of the quantities of screening and diagnostic service between each center is great. It is difficul
11、t to figure out the quality index,and the relevant integrated quality control system is short of. 2 The necessity to develop prenatal and genetic disease diagnosis in China As a secondary preventing measure to decrease the rate of newborn defect and malformation,the prenatal diag- nosis technique is
12、 an indispensable method to increase the quality of newborns. Now,there are approximately 16 million newborns every year in our country, among which there are more than 0. 4 million congenital defect neonates found by naked eye. In addition to the defects emerging in several months or years after be
13、ing born,the number of birth defects including death cases is up to 0. 8 -1. 2 million,which accounts for about 5% of total births. From the experience of developed countries, when infant mortality rate decreased to 40, congenital defect has gradually become a main reason which resulted in deaths of
14、 neonates. In 2000,mortality rate of neonates,which resulted from congenital defects,was 24. 5%. the result of autopsy showed that many deaths of fetuses without identified reason were due to congenital defect. Except resulting in death,the economical and psychosocial burden of family and society,wh
15、ich results from congenital defects,is more severe than that of infectious disease. Therefore,devel- oping prenatal and genetic disease diagnosis as secondary measures to prevent and decrease the births with congeni- tal defects is a key technique,which is suitable for improving the health of popula
16、tion in our country,and is a cru- cial point to bear healthy child. To promote the development of prenatal diagnosis,from 2001,Ministry of Health began to organize experts to evaluate the prenatal diagnostic technique in whole country. By surveying and evaluating,Report of surveying the prenatal dia
17、gnostic techniques service in China and Report of evaluating the prenatal diagnostic techniques were com- posed. The former described and analyzed the current situation and existing problems of the development of the pre- natal diagnostic techniques in China. The latter evaluated the development of
18、the prenatal diagnostic techniques and experience of management abroad. Based on the above,Ministry of Health drafted Administration Measurement of Prenatal Diagnostic Techniques and the relevant standards of techniques(thereinafter abbreviated as measurement) , Corresponding author s e-mail,wangbin
19、20081234 yahoo. com. cn 41 北京大学学报 (医学版) JOURNAL OF PEKING UNIVERSITY (HEALTH SCIENCES) Vol. 38 No. 1 Feb. 2006 and it was enacted in December 2002. Measurement,mainly based on Law of Maternal and infant health care,prescribes the connotation of prenatal diagnosis and the items of the prenatal diagno
20、stic technique,range of rules,admitted system of the institution and personnel,responsibilities of various levels of health authorities,standards of main techniques and building of pre- natal diagnosis network in whole country. Furthermore,seven appendixes extended the relevant content of Measure- m
21、ent:constructing the network of the prenatal diagnostic techniques among medical institutions and its responsibili- ty;the basic criteria for medical institutions to carry on the prenatal diagnosis;the standards of the professional technicians engaging in prenatal diagnosis;the technical standards o
22、f genetic counseling;the technical standards of prenatal screening of Down syndrome and the neural tube defects;the technical standards of ultrasonic diagnosis; the technical standards of fetal karyotype analysis etc. 3 The preliminary conception of the network of prenatal diagnostic service in Chin
23、a 3. 1 Programming of the network of prenatal diagnosis should be embodied as the network construction and domino effect of prenatal diagnosis Building the internal system of technical service of prenatal diagnosis,we need to realize that the service should cover all the demanded serving objects as
24、many as possible. At the same time,we should also consider the efficiency of utilizing resource,which is the important principle for the sustained development of the prenatal diag- nostic technique in our country, and is also one of the international experiences of the development of prenatal diag-
25、nosis. With the building of the internal system,institutions at different levels take their own charge. They should cooperate with each other,through the turning diagnosis mechanism from lower to upper. Via network cooperation, “geographical barrier”and“man-made rampart”can be broken. By rationally
26、ascertaining the number of institu- tions,it can decrease the cost of serving items and increase the efficiency. By building the system of quality assur- ance,it is possible to facilitate the development of the prenatal diagnosis technique gradually. Now,the primarily conceived network of the prenat
27、al diagnostic technique in whole country includes three parts: managing system, ser- ving system and quality control system. Managing system,built on the basis of above the county administrative department of health,is managed and assigned by Ministry of Health and the Provincial Administrative Depa
28、rtment of Health. Serving system includes national and provincial medical institutions that carry on prenatal diagnosis. All the institutions which offer prenatal and genetic tests and deliver service take on the responsibility to identify high risk patients. This system not only regards the domino
29、effect of dimension of developing technique,but also emphasizes its feasibility to develop technical service. According to the characteristics of the prenatal diagnostic techniques, the content of service mainly includes genetic counseling,imaging,biochemical and immune testing,cytogenetic and molec
30、ular genetic diagnosis etc. All medical institutions which apply for developing prenatal diagnosis must definite- ly choose the idiographic prenatal diagnostic items which they want to develop. With auditing and approving by pro- vincial health authorities, the institutes will get the certificates o
31、f executive maternal and infant caring service speci- fied on prenatal diagnosis, with pointing out the idiographic prenatal diagnostic items performed in the individual in- stitute. Quality control system is that by establishing and implementing a series of criteria and standards of the prenatal sc
32、reening and diagnostic technique,medical institutions of all levels,which can develop prenatal screening and di- agnosis,are standardized. At the same time,with the development of technique and requirement of normative man- agement of all classes,different operating authoritative institutions will b
33、e gradually formed,and will be accepted by peers when they take on the work in the whole country. External quality controlling system of prenatal and genet- ic disease diagnosis will be gradually formed, which can ensure the standardization of clinical services, security and efficiency. 3. 2 Embody
34、the managing idea of standardizing and developing prenatal diagnostic technique simultaneously China is a large country with a vast territory but the development of society is unbalance. When managing pre- natal diagnostic technique,we must pay attention to match them to local social economic condit
35、ions. Based on this, prenatal diagnosis will be developed. When macroscopically managing prenatal diagnosis,Ministry of Health should follow the principles of“standard”and“development” . On the one hand, management and supervision on the pre- natal diagnostic techniques should be reinforced,and corr
36、elative managing methods and technical standards should be established. Admitted System should be strictly implemented. Only the inspected and approved institutions can engage in this kind of technical service,and only persons who are certificated by standards can engage in this kind of technical se
37、rvice. The service internal system will be built in the whole country,preferring to few but not exces- sive,supervising service quality step by step. On the other hand, “development” should be emphasized. Feasible technique for prenatal diagnosis should be encouraged to be utilized. For the techniqu
38、es which local regions can de- velop,efficiency of the existing techniques,equipments,labor should be exerted. For example,ultrasonic,a kind of universal utilized medical equipment,can effectively be used to diagnose many dysmorphologic defects,such as part of neural tube defect. At the same time,re
39、searching and exploiting the prenatal diagnosis technique should be encouraged,especially genetic diagnosis,and feasible technique should be encouraged to spread in time;underde- veloped regions should be supported by the reciprocal policy,try to develop prenatal diagnostic technique,and pro- 51王 斌
40、中国大陆产前诊断的现状和前景 mote proper utilization. 3. 3 Build national prenatal diagnostic medical health caring institutions The necessity of building national prenatal diagnostic center can be demonstrated as follows: (1)Promote to turn prenatal diagnostic research to clinical usage. Important break of human
41、 genome program and lengthways em- bedded in the research will facilitate to increase the level of prenatal diagnosis,the function of national institutions embodies on the developing higher,more cuspidate scientific research,and facilitate to turn research to clinical practice.(2) It is good for inc
42、reasing service quality of prenatal diagnosis in our country. Provincial medical insti- tutions of prenatal diagnosis can refer the cases of stubborn diseases and rare diseases to national institutions,which can make exact diagnosis. By right of national institutionstechnical superiority,it is good
43、to manage and control quality of prenatal diagnosis in whole country,and facilitate research of the prenatal diagnosis technique to break through.(3)It can become a base to educate key technicians, trainers and qualified professionals of prenatal diag- nosis;it is its responsibility and obligation f
44、or national institutions to foster eligible prenatal diagnostic technicians. (4)It is benefit to make communications in the fields of prenatal diagnosis in China and the world. 4 Defining the relationship between prenatal screening and diagnosis Prenatal screening is economical,simple and unwounded
45、examining methods. High risk pregnant woman who is suspicious to have a congenital defect fetus can be selected from the pregnant women,in order to further definite- ly diagnose, and to decrease the birthrate of abnormal fetuses. Prenatal screening, as a part of the prenatal diagnos- tic techniques,
46、is good to increase the efficiency of prenatal diagnosis. Measurement and technical standards require that all medical institutions,which can develop prenatal screening,must be able to make prenatal diagnosis for those pregnant women at risk,whom have been detected in prenatal screening. In addition
47、,medical institutions must build cooperating relationship to ensure the screening positive cases to obtain the following necessary diagnosis since they were informed to be selected out. Quality control of prenatal screening will be brought into the quality control system of prenatal diagnosis. It me
48、ans that prenatal diagnostic institutions with the ability to conduct prena- tal diagnosis,or build some cooperating relation with those diagnostic institutions must strengthen quality control. As for the institutions at every level, the emphasis of the combination between screening and diagnosis is
49、 the signifi- cant component of quality control and network construction,and is also the indispensable element for the sustained development of the service. 5 Emphasize the examinee to be informed During the process of prenatal diagnostic service,what is important but usually neglected is the examinee s consent informed right. The faith of“on the basis of human being”in the medical service is putting the benefits of the pregnant woman and her family at the first position, and providing the secure, effective, timely prenatal diagno- sis service.“Informed-well to choose”in prenatal
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