Modern Medical Genetics and Genomics最新文献

Screening (Bi Test, Triple Test, Panorama Test) and Amniocentesis for Early Diagnosis of Congenital Malformations 筛查(Bi试验、三重试验、全景试验)和羊膜穿刺术用于先天性畸形的早期诊断

Modern Medical Genetics and Genomics Pub Date : 2019-07-31 DOI: 10.5772/INTECHOPEN.82466

Gladys C. Al Jashi, I. Jashi

{"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}

引用次数: 1

Modern Medical Genetics and Genomics in the Era of Personalized/Precision Medicine 个性化/精准医疗时代的现代医学遗传学和基因组学

Modern Medical Genetics and Genomics Pub Date : 2019-02-20 DOI: 10.5772/INTECHOPEN.84578

I. Gomy

引用次数: 0

Aneuploidy Rates Inversely Correlate with Implantation during In Vitro Fertilization Procedures: In Favor of PGT 在体外受精过程中，非整倍体率与着床负相关:支持PGT

Modern Medical Genetics and Genomics Pub Date : 2018-11-21 DOI: 10.5772/INTECHOPEN.81884

E. Schaeffer, L. Porchia, A. López-Luna, Dinorah Hernández-Melchor, E. López-Bayghen

{"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}

引用次数: 2

Genetic Contributors to Hereditary Cancer Predispositions: Do We Have Enough Information? 遗传因素对遗传性癌症易感性的影响:我们有足够的信息吗?

Modern Medical Genetics and Genomics Pub Date : 2018-11-05 DOI: 10.5772/INTECHOPEN.81870

T. Nolis, Rodney J. Scott

引用次数: 0

The Genetic and Biochemical Blueprint of Endometrial Receptivity: Past, Present, and Future Factors Involved in Embryo Implantation Success 子宫内膜容受性的遗传和生化蓝图:胚胎着床成功的过去、现在和未来因素

Modern Medical Genetics and Genomics Pub Date : 2018-11-05 DOI: 10.5772/INTECHOPEN.80452

A. López-Luna, Dinorah Hernández-Melchor, L. Ramírez-Martínez, E. López-Bayghen

{"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}

引用次数: 1