Genetic Disorders in the Fetus from Diagnosis to Treatment

2020 ◽  
Author(s):  
Tayebeh Rabaninia ◽  
Nooshin Amjadi
Keyword(s):  
Mental Illness ◽  
Heart Disease ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Genetic Disease ◽  
Genetic Disorders ◽  
Genetic Diseases ◽  
Medical Knowledge ◽  
Gene Mutations ◽  
Prevention Of Disability

Background: Today there are many diseases that genetics contributes to these, including diabetes, hypertension, cancer, heart disease, various types of cancers and even mental illness, and by the advancement of medical knowledge The number of genetic diseases is increasing now. most people think about genetic diseases as inherited diseases, which are mostly caused by gene mutations and other genetically inherited factors. Most of the genetic disorders currently do not have 100% treatment, and the only way is to preventing the prevalence of them before marriage.   Methods: Eligible articles were identified by search of databases including NCBI, PubMed, ISI Web of Knowledge and Google scholar up to July 2017.   Results: In the field of prevention of disability and genetic disorders, many members who are at risk of genetic disease should have genetic counseling to get useful information about it. Without genetic counseling, genetic testing is meaningless, as people do not go to the laboratory without a doctor's visit; Genetic counselors won’t be able to stop people from getting married, but they provide solutions to prevent them from possible disorders.   Conclusions: This study provides information on genetic diseases and prevents them in newborns and suggests new solutions for the treatment of these diseases.

scholarly journals The diagnostic trajectory of infants and children with clinical features of genetic disease

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Brock E. Schroeder ◽  
Nina Gonzaludo ◽  
Katie Everson ◽  
Kyi-Sin Than ◽  
Jeff Sullivan ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Features ◽  
Genetic Disease ◽  
Pediatric Patients ◽  
Genetic Disorders ◽  
Genetic Diseases ◽  
Cost Of Care ◽  
Clinical Indicators ◽  
Utilization Of Services ◽  
Number Of Patients

AbstractWe characterized US pediatric patients with clinical indicators of genetic diseases, focusing on the burden of disease, utilization of genetic testing, and cost of care. Curated lists of diagnosis, procedure, and billing codes were used to identify patients with clinical indicators of genetic disease in healthcare claims from Optum’s de-identified Clinformatics® Database (13,076,038 unique patients). Distinct cohorts were defined to represent permissive and conservative estimates of the number of patients. Clinical phenotypes suggestive of genetic diseases were observed in up to 9.4% of pediatric patients and up to 44.7% of critically-ill infants. Compared with controls, patients with indicators of genetic diseases had higher utilization of services (e.g., mean NICU length of stay of 31.6d in a cohort defined by multiple congenital anomalies or neurological presentations compared with 10.1d for patients in the control population (P < 0.001)) and higher overall costs. Very few patients received any genetic testing (4.2–8.4% depending on cohort criteria). These results highlight the substantial proportion of the population with clinical features associated with genetic disorders and underutilization of genetic testing in these populations.

scholarly journals Knowledge and attitude toward genetic diseases and genetic tests among pre-marriage individuals: A cross-sectional study in northern Iran

2019 ◽  
Author(s):  
Mohammad Bagher Hashemi-Soteh ◽  
Ali Vali Nejad ◽  
Golamreza Ataei ◽  
Dariush Ghasemi ◽  
Rita Siamy
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Genetic Diseases ◽  
Cross Sectional Study ◽  
Or Education ◽  
Genetic Tests ◽  
Northern Iran ◽  
Cross Sectional ◽  
Hereditary Disorders ◽  
Knowledge And Attitude

Background: Genetic testing has been widely introduced for many hereditary disorders. While the attitudes towards these facilities have been evaluated in many countries, there are only a few reports on the knowledge of and the orientation among Iranians. Objective: The current study assesses the attitudes and knowledge of pre-marriage individuals toward the availability and use of genetic tests. Materials and Methods: A comprehensive questionnaire was distributed among 408 marrying individuals. The questions addressed the demographic characteristics along the registration of participant’s knowledge, education, and attitude toward genetic testing. The individuals were divided into three groups based on their knowledge: 1) Scored above 80 to 100 were defined as “good” 2) 60 to 80 as “average” 3) less than 60 as “poor” knowledge. Result: Most participants (86%) believed consanguineous marriages increase the risk of genetic diseases; 82.3% knew that thalassemia is a type of genetic disease, only 33.3% could distinguish prenatal diagnosis (PND) from other laboratory tests. The relationship between the participants’ knowledge and their level of education was significant (r = 0.78, p < 0.001), age (r =–0.16, p < 0.01), and urbanity (p < 0.01). A prominent relationship was observed between the knowledge (r = 0.64, p < 0.001) or education (r = 0.62, p < 0.001) and people’s desire to use the genetic tests before the wedding ceremony. No significant correlations were found between the participant’s attitude and their ages/urbanity. Most of the individuals agreed to arrange a genetic counseling before marriage (0.94%). Conclusion: This study revealed that most individuals were interested in using genetic counseling services and genetic tests before marriage.

Practice of Genetics in Clinical Medicine

2010 ◽  
Author(s):  
Bruce R Korf ◽  
Carlos Gallego
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Clinical Medicine ◽  
Maternal Inheritance ◽  
Genetic Disorders ◽  
Gene Mutations ◽  
Basic Principles ◽  
Direct To Consumer ◽  
Risk Assessment And Prevention ◽  
Traditional Area

This review provides a general overview of the genetic approach in medical practice, discusses the principles of genetic testing, including interpretation of genetic tests and direct-to-consumer genomic testing, and looks at genetic counseling and approaches to treatment. The internist should become familiar with genetic disorders such as those associated with mutations in single genes or changes in chromosome number or structure. This is the traditional area of focus for medical geneticists and is likely to remain so. The internist should be familiar with basic principles of care for individuals with the more common of these conditions and needs to recognize clues that suggest the presence of these disorders, especially in family history. The section on genetics of common disorders focuses on pharmacogenetics, risk assessment, and prevention. Figures illustrate commonly used standard pedigree symbols and examples of autosomal recessive, autosomal dominant, X-linked recessive, and maternal inheritance. Tables offer different forms of genetic testing and types of gene mutations at genome and DNA levels. This review contains 2 figures, 2 tables, and 83 references.

Prenatal molecular diagnosis of a severe type of L1 syndrome (X-linked hydrocephalus)

2011 ◽  
Vol 8 (4) ◽  
pp. 411-416 ◽  
Author(s):  
Mami Yamasaki ◽  
Masahiro Nonaka ◽  
Nobuhiro Suzumori ◽  
Hiroaki Nakamura ◽  
Hiroshi Fujita ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Gene Mutations ◽  
Syndrome X ◽  
Male Fetus ◽  
Gene Testing ◽  
L1 Syndrome ◽  
Genetic Medicine ◽  
Gene Mutation Analysis ◽  
Severe Type

Object The aim of this study was to evaluate the feasibility of prenatal L1CAM gene testing for X-linked hydrocephalus (XLH). Methods In a nationwide study conducted in Japan between 1999 and 2009, the authors identified 51 different L1CAM gene mutations in 56 families with XLH. Of these 56 families, 9 obligate carriers requested prenatal gene mutation analysis for the fetal L1CAM gene in 14 pregnancies. Results In 2004, new clinical guidelines for genetic testing were established by 10 Japanese genetic medicine–related societies. These guidelines stated that the genetic testing of carriers should be done only with their consent and with genetic counseling. Therefore, because females are carriers, since 2004, L1CAM gene analysis has not been performed for female fetuses. The authors report on 7 fetal genetic analyses that were performed at the request of families carrying L1CAM mutations, involving 3 female (prior to 2004) and 4 male fetuses. Of the 7 fetuses, 3 (1 male and 2 female) carried L1CAM mutations. Of these 3, 1 pregnancy (the male fetus) was terminated; in the other cases, the pregnancies continued, and 3 female and 3 male babies without the XLH phenotype were born. Conclusions Prenatal L1CAM gene testing combined with genetic counseling was beneficial for families carrying L1CAM mutations.

Practice of Genetics in Clinical Medicine

2010 ◽  
Author(s):  
Bruce R Korf ◽  
Carlos Gallego
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Clinical Medicine ◽  
Maternal Inheritance ◽  
Genetic Disorders ◽  
Gene Mutations ◽  
Basic Principles ◽  
Direct To Consumer ◽  
Risk Assessment And Prevention ◽  
Traditional Area

This review provides a general overview of the genetic approach in medical practice, discusses the principles of genetic testing, including interpretation of genetic tests and direct-to-consumer genomic testing, and looks at genetic counseling and approaches to treatment. The internist should become familiar with genetic disorders such as those associated with mutations in single genes or changes in chromosome number or structure. This is the traditional area of focus for medical geneticists and is likely to remain so. The internist should be familiar with basic principles of care for individuals with the more common of these conditions and needs to recognize clues that suggest the presence of these disorders, especially in family history. The section on genetics of common disorders focuses on pharmacogenetics, risk assessment, and prevention. Figures illustrate commonly used standard pedigree symbols and examples of autosomal recessive, autosomal dominant, X-linked recessive, and maternal inheritance. Tables offer different forms of genetic testing and types of gene mutations at genome and DNA levels. This review contains 2 figures, 2 tables, and 83 references.

scholarly journals Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing

2020 ◽  
Author(s):  
Theodore J Morley ◽  
Lide Han ◽  
Jonathan Morra ◽  
Nancy J Cox ◽  
Lisa Bastarache ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Data ◽  
Genetic Disease ◽  
Genetic Test ◽  
Genetic Diseases ◽  
Copy Number Variant ◽  
Test Sample ◽  
Chromosomal Microarray ◽  
Quickest Path ◽  
Organ Systems

Around five percent of the population is affected by a rare disease, most often due to genetic variation. A genetic test is the quickest path to a diagnosis, yet most suffer through years of diagnostic odyssey before getting a test, if they receive one at all. Identifying patients that are likely to have a genetic disease and therefore need genetic testing is paramount to improving diagnosis and treatment. While there are thousands of previously described genetic diseases with specific phenotypic presentations, a common feature among them is the presence of multiple rare phenotypes which often span organ systems. Here, we hypothesize that these patients can be identified from longitudinal clinical data in the electronic health record (EHR). We used diagnostic information from the EHRs of 2,286 patients that received a chromosomal microarray and 9,144 matched controls to train and test a prediction model. We identified high prediction accuracy (AUROC = 0.97, AUPR = 0.92) in a held-out test sample and in 172,265 hospital patients where cases were defined broadly as interacting with a genetics provider (AUROC = 0.9, AUPR = 0.63). High probabilities (median = 0.97) were associated with 46 patients carrying a known pathogenic copy number variant (CNV) among a subset of 6,445 genotyped patients. Our model identified many more patients needing a genetic test while increasing the proportion having a putative genetic disease compared to the current nonsytematic approach. Taken together, we demonstrate that phenotypic patterns representative of a genetic disease can be captured from EHR data and provide an opportunity to systematize decision making on genetic testing to speed up diagnosis, improve care, and reduce costs.

scholarly journals Genetic Counseling and Testing in Pulmonary Arterial Hypertension

2021 ◽  
Vol 17 (2) ◽  
pp. 101-105
Author(s):  
C Gregory Elliott
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Family Members ◽  
Gene Mutations ◽  
Current State ◽  
Counseling And Testing ◽  
Pulmonary Arterial ◽  
Pathogenic Gene

A subgroup of patients diagnosed with pulmonary arterial hypertension (PAH) carry transmissible pathogenic gene mutations. For many of these patients, the heritable nature of their disease can only be uncovered by genetic testing. Because identification of PAH patients who carry pathogenic gene mutations has important implications for other family members, genetic counseling and testing should be offered to patients diagnosed with idiopathic or familial PAH. This review describes the current state of genetic counseling and testing for patients diagnosed with PAH.

Practice of Genetics in Clinical Medicine

2010 ◽  
Author(s):  
Bruce R Korf ◽  
Carlos Gallego
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Clinical Medicine ◽  
Maternal Inheritance ◽  
Genetic Disorders ◽  
Gene Mutations ◽  
Basic Principles ◽  
Direct To Consumer ◽  
Risk Assessment And Prevention ◽  
Traditional Area

This review provides a general overview of the genetic approach in medical practice, discusses the principles of genetic testing, including interpretation of genetic tests and direct-to-consumer genomic testing, and looks at genetic counseling and approaches to treatment. The internist should become familiar with genetic disorders such as those associated with mutations in single genes or changes in chromosome number or structure. This is the traditional area of focus for medical geneticists and is likely to remain so. The internist should be familiar with basic principles of care for individuals with the more common of these conditions and needs to recognize clues that suggest the presence of these disorders, especially in family history. The section on genetics of common disorders focuses on pharmacogenetics, risk assessment, and prevention. Figures illustrate commonly used standard pedigree symbols and examples of autosomal recessive, autosomal dominant, X-linked recessive, and maternal inheritance. Tables offer different forms of genetic testing and types of gene mutations at genome and DNA levels. This review contains 2 figures, 2 tables, and 83 references.

scholarly journals Do fair and just systems require compensation for the disadvantages of the natural lottery? a discussion on society's duties on the provision of gene therapy

2019 ◽  
Vol 22 (1) ◽  
pp. 69-74
Author(s):  
PE Ekmekci ◽  
MD Güner
Keyword(s):  
Gene Therapy ◽  
Genetic Disease ◽  
Equal Opportunity ◽  
Genetic Disorders ◽  
Genetic Diseases ◽  
Medical Science ◽  
Main Question ◽  
Treatment Needs ◽  
Gene Therapies ◽  
Recent Advances

AbstractGenetic diseases have been thought to be acquired as a result of sheer bad luck. However, recent advances in medical science have demonstrated the mechanisms of genetic disorders, which enable us to intervene with their occurrence and treatment. Today, gene therapy, once considered too risky, has become safer and can save the lives of patients with previously untreatable and lethal genetic diseases. However, the positive expectations from gene therapy are overshadowed by their extremely high prices. Thus, the duty of society in the provision of gene therapies has been frequently discussed. The discussions mainly focus on how to meet the genetic treatment needs of patients without violating the notion of justice and fairness in society. This study discusses the theoretical grounds for society's duty to compensate for genetic disease patients' disadvantages by providing them with appropriate genetic treatment. The main question is whether a fair and just system requires society to provide available lifesaving gene therapy to patients in need. The discussion is constructed on the crucial notion of the fair equal opportunity principle in a just system and the plausibility of including disadvantages emerging from bad luck in the natural lottery in the domain of justice.

Oncolytic Coxsackievirus and the Mechanisms of its Effects on Cancer: A Narrative Review

2020 ◽  
Vol 16 ◽  
Author(s):  
Ali Ahmadi ◽  
Hadi Esmaeili Gouvarchin Ghaleh ◽  
Ruhollah Dorostkar ◽  
Mahdieh Farzanehpour ◽  
Masoumeh Bolandian
Keyword(s):  
Genetic Disease ◽  
Control Cell ◽  
Gene Mutations ◽  
Therapeutic Agents ◽  
Cell Penetrating Peptides ◽  
Triggered Release ◽  
New Techniques ◽  
Viral Therapy ◽  
Cell Penetrating ◽  
Cancer Cell Targeting

Abstract:: Cancer is a genetic disease triggered by gene mutations, which control cell growth and their functionality inherited from previous generations. The targeted therapy of some tumors was not especially successful. A host of new techniques can be used to treat aptamer-mediated targeting, cancer immunotherapy, cancer stem cell (CSC) therapy, cell-penetrating peptides (CPPs), hormone therapy, intracellular cancer cell targeting, nanoparticles, and viral therapy. These include chemical-analog conjugation, gene delivery, ligand-receptor-based targeting, prodrug therapies, and triggered release strategies. Virotherapy is a biotechnological technique for turning viruses into therapeutic agents by the reprogramming of viruses to cure diseases. In several tumors, including melanoma, multiple myeloma, bladder cancer, and breast cancer, the oncolytic capacity of oncolytic Coxsackievirus has been studied. The present study aims to assess oncolytic Coxsackievirus and its mechanisms of effect on cancer cells.

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