1 The history and main problems in prenatal diagnosis and clinical diagnosis of inherited diseasesPrenatal diagnosis is to diagnose the fetal congenital defects and inherited diseases. In the earlier 1970s, thegroup o...1 The history and main problems in prenatal diagnosis and clinical diagnosis of inherited diseasesPrenatal diagnosis is to diagnose the fetal congenital defects and inherited diseases. In the earlier 1970s, thegroup of prenatal diagnosis in Peking Union Hospital was founded by Dr. 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 fetalchromosomal diseases in the second trimester of pregnancy. In 1988, they succeeded in diagnosing chromosomaldiseases by taking the chorionic villus in the early pregnancy. Since then, the genetic and prenatal counseling tothose 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 posi-tion of technicians in prenatal and genetic disease diagnosis in medical institutions, the falling behind of standardtraining, the lost of person with proper ability, and the lack of standard criteria for some highly difficult techniquessuch as culturing amniotic fluid cell,the chorionic villus sampling,clinical diagnosis of chromosomal and geneticdiseases, medical friction appeared in some regions.At the same time, this type of clinical service, with difficulttechnique and high risk, is short of lawprotection, which reduced the enthusiasm of advanced clinical service. Inthe whole country, 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 tothe lag-off on prenatal and genetic disease diagnosis in clinical service.展开更多
Genetic tests for about1 000 health conditions have been developed, of which more than 600 are currently a-vailable for clinical testing[1]. Many genetic tests identify DNAvariants; others measure biochemical markers ...Genetic tests for about1 000 health conditions have been developed, of which more than 600 are currently a-vailable for clinical testing[1]. Many genetic tests identify DNAvariants; others measure biochemical markers or an-alyze chromosomes. Most are used for diagnosis of rare single-gene disorders or chromosome abnormalities, and afeware used for newborn screening[2]. Agrowing number of genetic tests may have population-based applications.This includes determining the risk of developing a disease or condition in the future (e.g., predictive testing forbreast cancer or cardiovascular disease), and recognizing genetic variations that can influence response to medi-cines (pharmacogenomics). These genetic tests, therefore, have the potential for broad public health impact.展开更多
文摘1 The history and main problems in prenatal diagnosis and clinical diagnosis of inherited diseasesPrenatal diagnosis is to diagnose the fetal congenital defects and inherited diseases. In the earlier 1970s, thegroup of prenatal diagnosis in Peking Union Hospital was founded by Dr. 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 fetalchromosomal diseases in the second trimester of pregnancy. In 1988, they succeeded in diagnosing chromosomaldiseases by taking the chorionic villus in the early pregnancy. Since then, the genetic and prenatal counseling tothose 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 posi-tion of technicians in prenatal and genetic disease diagnosis in medical institutions, the falling behind of standardtraining, the lost of person with proper ability, and the lack of standard criteria for some highly difficult techniquessuch as culturing amniotic fluid cell,the chorionic villus sampling,clinical diagnosis of chromosomal and geneticdiseases, medical friction appeared in some regions.At the same time, this type of clinical service, with difficulttechnique and high risk, is short of lawprotection, which reduced the enthusiasm of advanced clinical service. Inthe whole country, 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 tothe lag-off on prenatal and genetic disease diagnosis in clinical service.
文摘Genetic tests for about1 000 health conditions have been developed, of which more than 600 are currently a-vailable for clinical testing[1]. Many genetic tests identify DNAvariants; others measure biochemical markers or an-alyze chromosomes. Most are used for diagnosis of rare single-gene disorders or chromosome abnormalities, and afeware used for newborn screening[2]. Agrowing number of genetic tests may have population-based applications.This includes determining the risk of developing a disease or condition in the future (e.g., predictive testing forbreast cancer or cardiovascular disease), and recognizing genetic variations that can influence response to medi-cines (pharmacogenomics). These genetic tests, therefore, have the potential for broad public health impact.
