The clinical application of exome sequencing is increasing, and its value for genetic disease diagnosis and pathogenesis research is constantly verified. In many regions and countries, exome sequencing is recommended as the first tier technique for diagnosing rare pediatric diseases. In prenatal settings, exome sequencing is gradually changing traditional prenatal diagnostic strategies, but it is still mostly experimental. This is partly because of the difficulties in obtaining fetal phenotype. As well as the prenatal phenotypes and pathogenesis of many diseases are still not fully understood. So sufficient case evidence is still needed to evaluate the value of exome sequencing technology for prenatal diagnosis.
This Research Topic aims to collect prenatal abnormal cases, record the prenatal and postnatal phenotypes of fetuses in detail, learn more about the prenatal phenotype spectrum of genetic diseases, provide more basis for the prenatal diagnosis of diseases and explore the pathogenesis of rare diseases. Through the combination of exome sequencing and traditional prenatal diagnosis technology, the diagnostic value of exome sequencing technology for fetuses with structural abnormalities will be evaluated in detail. We encourage submissions for this Topic that will help evaluate the cost-effectiveness.
We intend to collect Original Research, Reviews and Case Reports on phenotype descriptions of prenatal clinical cases of genetic diseases and genetic diagnostic procedures, especially the application of exome sequencing techniques for fetal abnormalities. Molecular pathogenesis of rare diseases is also of interest. We are interested in individual cases of rare diseases and cohort studies of various types of prenatal structural abnormalities.
The clinical application of exome sequencing is increasing, and its value for genetic disease diagnosis and pathogenesis research is constantly verified. In many regions and countries, exome sequencing is recommended as the first tier technique for diagnosing rare pediatric diseases. In prenatal settings, exome sequencing is gradually changing traditional prenatal diagnostic strategies, but it is still mostly experimental. This is partly because of the difficulties in obtaining fetal phenotype. As well as the prenatal phenotypes and pathogenesis of many diseases are still not fully understood. So sufficient case evidence is still needed to evaluate the value of exome sequencing technology for prenatal diagnosis.
This Research Topic aims to collect prenatal abnormal cases, record the prenatal and postnatal phenotypes of fetuses in detail, learn more about the prenatal phenotype spectrum of genetic diseases, provide more basis for the prenatal diagnosis of diseases and explore the pathogenesis of rare diseases. Through the combination of exome sequencing and traditional prenatal diagnosis technology, the diagnostic value of exome sequencing technology for fetuses with structural abnormalities will be evaluated in detail. We encourage submissions for this Topic that will help evaluate the cost-effectiveness.
We intend to collect Original Research, Reviews and Case Reports on phenotype descriptions of prenatal clinical cases of genetic diseases and genetic diagnostic procedures, especially the application of exome sequencing techniques for fetal abnormalities. Molecular pathogenesis of rare diseases is also of interest. We are interested in individual cases of rare diseases and cohort studies of various types of prenatal structural abnormalities.