Pub Date : 2019-07-31DOI: 10.5772/INTECHOPEN.82466
Gladys C. Al Jashi, I. Jashi
The genetic consult is very important in the diagnosis of early fetal malformations and its complications at birth and after it. Our research is based on a 3-year research on 6097 pregnant women who underwent screening Bi-Test or Triple Test . We discovered 408 pregnant women who were found positive and needed amniocentesis for a diagnostic of certitude. Out of them, 14 had a positive result from which 10 were found with Down syndrome and 4 with Edwards syndrome. In Romania, amniocentesis has become the most used method of prenatal diagnosis for pregnant women at 35 or above with a family history of hereditary congenital anomalies. However, the latest screening test from maternal blood, the Panorama test, can discover many malformations (for chromosomes 21, 18, and 13 and the abnormality of the sex chromosome). The accuracy for false positive is 2% and false negative 98%. In that light, the purpose of our study is to decrease the use of amniocentesis and to introduce the latest tests (Panoramic) for the early diagnosis of fetal malformation, the use of maternal blood, and the avoidance of using invasive medical procedures.
{"title":"Screening (Bi Test, Triple Test, Panorama Test) and Amniocentesis for Early Diagnosis of Congenital Malformations","authors":"Gladys C. Al Jashi, I. Jashi","doi":"10.5772/INTECHOPEN.82466","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.82466","url":null,"abstract":"The genetic consult is very important in the diagnosis of early fetal malformations and its complications at birth and after it. Our research is based on a 3-year research on 6097 pregnant women who underwent screening Bi-Test or Triple Test . We discovered 408 pregnant women who were found positive and needed amniocentesis for a diagnostic of certitude. Out of them, 14 had a positive result from which 10 were found with Down syndrome and 4 with Edwards syndrome. In Romania, amniocentesis has become the most used method of prenatal diagnosis for pregnant women at 35 or above with a family history of hereditary congenital anomalies. However, the latest screening test from maternal blood, the Panorama test, can discover many malformations (for chromosomes 21, 18, and 13 and the abnormality of the sex chromosome). The accuracy for false positive is 2% and false negative 98%. In that light, the purpose of our study is to decrease the use of amniocentesis and to introduce the latest tests (Panoramic) for the early diagnosis of fetal malformation, the use of maternal blood, and the avoidance of using invasive medical procedures.","PeriodicalId":110761,"journal":{"name":"Modern Medical Genetics and Genomics","volume":"52-54 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132212010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-02-20DOI: 10.5772/INTECHOPEN.84578
I. Gomy
Modern medical genetics as a well-defined field of medicine has developed so fast since its origins half a century ago that we cannot bear in mind how long time ago its roots and beginnings came from. It can be argued that genetics overall was based on measuring the problems of human hereditary features and inherited diseases, since before the twentiethcentury acceptance of Mendelian laws of heredity. Thus, medical genetics, viewed from its broadest perspective, is perhaps the oldest area of genetics and not a recent area that it is sometimes believed.
{"title":"Modern Medical Genetics and Genomics in the Era of Personalized/Precision Medicine","authors":"I. Gomy","doi":"10.5772/INTECHOPEN.84578","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.84578","url":null,"abstract":"Modern medical genetics as a well-defined field of medicine has developed so fast since its origins half a century ago that we cannot bear in mind how long time ago its roots and beginnings came from. It can be argued that genetics overall was based on measuring the problems of human hereditary features and inherited diseases, since before the twentiethcentury acceptance of Mendelian laws of heredity. Thus, medical genetics, viewed from its broadest perspective, is perhaps the oldest area of genetics and not a recent area that it is sometimes believed.","PeriodicalId":110761,"journal":{"name":"Modern Medical Genetics and Genomics","volume":"18 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126152496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-11-21DOI: 10.5772/INTECHOPEN.81884
E. Schaeffer, L. Porchia, A. López-Luna, Dinorah Hernández-Melchor, E. López-Bayghen
Aneuploidy, the hold of an abnormal number of chromosomes that differs from the normal karyotype, is a recognized leading cause of miscarriage and congenital disabilities. In human gametes and embryos, aneuploidy rates are prevalent, and these rates increase with advanced maternal age; additionally, it has been suggested that hormonal stimulation for achieving in vitro fertilization (IVF) protocols further increases aneuploidy rates. Although about 65% of chromosomally abnormal embryos culminate in spontaneous miscarriages, there is still evidence of live births harboring crucial aneuploidies. Furthermore, although some frequent aneuploidies are consistent, others differ between countries, making it harder to focus on a specific set of anomalies but vital to focus regionally on those more prevalent. Preimplantation genetic testing (PGT) is a highly endorsed technique in assisted reproductive treatments to evaluate possible embryo aneuploidies, genetic defects, and congenital disorders. On this subject, this study shows that IVF aneuploidy rates in embryo cohorts of high morphological quality are inversely associated with implantation rates. In its entirety, this study reinforces the utility of PGT for embryo evaluation.
{"title":"Aneuploidy Rates Inversely Correlate with Implantation during In Vitro Fertilization Procedures: In Favor of PGT","authors":"E. Schaeffer, L. Porchia, A. López-Luna, Dinorah Hernández-Melchor, E. López-Bayghen","doi":"10.5772/INTECHOPEN.81884","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.81884","url":null,"abstract":"Aneuploidy, the hold of an abnormal number of chromosomes that differs from the normal karyotype, is a recognized leading cause of miscarriage and congenital disabilities. In human gametes and embryos, aneuploidy rates are prevalent, and these rates increase with advanced maternal age; additionally, it has been suggested that hormonal stimulation for achieving in vitro fertilization (IVF) protocols further increases aneuploidy rates. Although about 65% of chromosomally abnormal embryos culminate in spontaneous miscarriages, there is still evidence of live births harboring crucial aneuploidies. Furthermore, although some frequent aneuploidies are consistent, others differ between countries, making it harder to focus on a specific set of anomalies but vital to focus regionally on those more prevalent. Preimplantation genetic testing (PGT) is a highly endorsed technique in assisted reproductive treatments to evaluate possible embryo aneuploidies, genetic defects, and congenital disorders. On this subject, this study shows that IVF aneuploidy rates in embryo cohorts of high morphological quality are inversely associated with implantation rates. In its entirety, this study reinforces the utility of PGT for embryo evaluation.","PeriodicalId":110761,"journal":{"name":"Modern Medical Genetics and Genomics","volume":"58 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130738645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-11-05DOI: 10.5772/INTECHOPEN.81870
T. Nolis, Rodney J. Scott
Genomics medicine and molecular genetics are experiencing a surge of interest as well as a push for a more prominent role in mainstream medicine. This, coupled with the advancement of next-generation sequencing, along with a national, if not global, steering of funding to support the advancement and development of genetics is suggesting that we are entering a new age of medicine. As this push begins to gain some momentum, the impact of genomics medicine on clinical utility and the influence of supporting data on genes that make their way from research to diagnostic medicine are worth reviewing.
{"title":"Genetic Contributors to Hereditary Cancer Predispositions: Do We Have Enough Information?","authors":"T. Nolis, Rodney J. Scott","doi":"10.5772/INTECHOPEN.81870","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.81870","url":null,"abstract":"Genomics medicine and molecular genetics are experiencing a surge of interest as well as a push for a more prominent role in mainstream medicine. This, coupled with the advancement of next-generation sequencing, along with a national, if not global, steering of funding to support the advancement and development of genetics is suggesting that we are entering a new age of medicine. As this push begins to gain some momentum, the impact of genomics medicine on clinical utility and the influence of supporting data on genes that make their way from research to diagnostic medicine are worth reviewing.","PeriodicalId":110761,"journal":{"name":"Modern Medical Genetics and Genomics","volume":"65 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125122969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-11-05DOI: 10.5772/INTECHOPEN.80452
A. López-Luna, Dinorah Hernández-Melchor, L. Ramírez-Martínez, E. López-Bayghen
In the field of assisted reproductive technology, endometrial receptivity is a crucial aspect that affects implantation rates in in-vitro fertilization procedures; in fact, impaired endometrial receptivity has been identified as the rate-limiting step for favorable pregnancy outcomes once factors regarding embryo quality have been optimized. The endometrium is a dynamic tissue that undergoes proliferative and secretory changes in each menstrual cycle, acquiring a short and transient period of embryo receptivity known as the Window of Implantation. Precise embryo-endometrial synchrony is necessary to achieve a successful pregnancy, and it involves complex and multifactorial processes related to morphological, biochemical, and genetic changes. On that behalf, defining the receptive window of each patient for personalized embryo transfer is a current goal. Here, we review different indicators of endometrial receptivity throughout the menstrual cycle, spotlighting the opening of the window of implantation: classical histological and biochemical markers, genetic factors, leading-edge transcriptomic signatures and miRNA profiles, and novel features such as the microbiome and secretome. Understanding the molecular mechanisms behind endometrial receptivity will facilitate the optimization and improvement of infertility treatments.
{"title":"The Genetic and Biochemical Blueprint of Endometrial Receptivity: Past, Present, and Future Factors Involved in Embryo Implantation Success","authors":"A. López-Luna, Dinorah Hernández-Melchor, L. Ramírez-Martínez, E. López-Bayghen","doi":"10.5772/INTECHOPEN.80452","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.80452","url":null,"abstract":"In the field of assisted reproductive technology, endometrial receptivity is a crucial aspect that affects implantation rates in in-vitro fertilization procedures; in fact, impaired endometrial receptivity has been identified as the rate-limiting step for favorable pregnancy outcomes once factors regarding embryo quality have been optimized. The endometrium is a dynamic tissue that undergoes proliferative and secretory changes in each menstrual cycle, acquiring a short and transient period of embryo receptivity known as the Window of Implantation. Precise embryo-endometrial synchrony is necessary to achieve a successful pregnancy, and it involves complex and multifactorial processes related to morphological, biochemical, and genetic changes. On that behalf, defining the receptive window of each patient for personalized embryo transfer is a current goal. Here, we review different indicators of endometrial receptivity throughout the menstrual cycle, spotlighting the opening of the window of implantation: classical histological and biochemical markers, genetic factors, leading-edge transcriptomic signatures and miRNA profiles, and novel features such as the microbiome and secretome. Understanding the molecular mechanisms behind endometrial receptivity will facilitate the optimization and improvement of infertility treatments.","PeriodicalId":110761,"journal":{"name":"Modern Medical Genetics and Genomics","volume":"51 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130695081","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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