scholarly journals Prenatal Testing – What Is It Good For? A Review and Critique

OBM Genetics ◽  
2021 ◽  
Vol 05 (03) ◽  
pp. 1-1
Author(s):  
Robert Resta ◽  
Keyword(s):  
Public Health ◽  
Economic Burden ◽  
Genetic Disease ◽  
Pregnancy Termination ◽  
Genetic Disorders ◽  
Medical Science ◽  
Prenatal Testing ◽  
Selective Abortion ◽  
Fetal Aneuploidy ◽  
Competing Interests

The goals of prenatal testing remain controversial and reflect competing interests of public health, patient rights, disability activists, scholars, feminist critics, commercial laboratories, judiciary/legislative trends, and medical science. This paper reviews and critiques the most common justifications of prenatal testing for fetal aneuploidy that have been put forth over the half century of its existence: reducing the medical and economic burden to society of genetic disease through selective abortion, allowing parents to avoid raising a child with disabilities, preventing the suffering associated with chromosomal and genetic disorders, emotional reassurance about the health of the baby, and medical and emotional preparation for the birth of a baby with a disability. Each of these goals has problematic aspects, as do some of the criticisms of these goals. The most striking shortcoming of the justifications for prenatal testing is a dearth of research about potential medical, psychological, or adaptational benefits of prenatal testing, especially for aneuploidy, for babies and families, beyond the option of pregnancy termination.

The importance of genetic disease and the need for prevention

1988 ◽  
Vol 319 (1194) ◽  
pp. 211-227 ◽  
Keyword(s):  
Public Health ◽  
Genetic Disease ◽  
Genetic Disorders ◽  
Fetal Diagnosis ◽  
The Past ◽  
Prevention And Treatment

Until recently the effects of disease could only be reduced by prevention and treatment. It is now possible to interrupt development after fetal diagnosis. This prevents birth, but not the cause of the disease, and is usefully termed ‘avoidance’. Genetic disorders are the consequence of mutational events in the past, including the remote and the immediate past, and prevention, in its true sense, can only be applied to preventing further mutations. This requires a knowledge both of the mechanism of mutation and of the mutagens to which populations and individuals are exposed, and the maintenance of public health requires the collection of data relevant to mutational disease.

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.

Economic Burden of Public Health Care Was Higher than that of Hospitalization and Treatment Associated with COVID-19 In China

2020 ◽  
Author(s):  
Xiaohua Liang ◽  
Lun Xiao ◽  
Xue-Li Yang ◽  
Xuefei Zhong ◽  
Peng Zhang ◽  
...  
Keyword(s):  
Public Health ◽  
Health Care ◽  
Economic Burden ◽  
Public Health Care

scholarly journals PCR vs karyotype for CVS and amniocentesis—the experience at one tertiary fetal medicine unit

2021 ◽  
Author(s):  
Catherine Finnegan ◽  
Suzanne Smyth ◽  
Orla Smith ◽  
Karen Flood ◽  
Jane Dalrymple ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Pregnancy Termination ◽  
Normal Pregnancy ◽  
Screening Tests ◽  
Fetal Medicine ◽  
Non Invasive ◽  
Fetal Aneuploidy ◽  
Polymerase Chain ◽  
Normal Ultrasound ◽  
Fetal Karyotype

Abstract Purpose Despite the rise of non-invasive screening tests for fetal aneuploidy, invasive testing during pregnancy remains the definitive diagnostic tool for fetal genetic anomalies. Results are rapidly available with polymerase chain reaction (PCR) tests, but cases have been reported whereby initial results were not confirmed after pregnancy termination and the fetal karyotype was ultimately normal. We sought to examine the potential discordance between PCR and karyotype for fetal aneuploidy. Methods The results from all amniocentesis and CVS tests performed over a 6-year period in a large tertiary level fetal medicine unit were reviewed. The results of PCR and karyotype were recorded and discrepancies examined. Pregnancy outcomes were also recorded. Results A total of 1222 invasive tests were performed (716 amniocentesis and 506 CVS). Within the cohort having amniocentesis, 11 had discrepant results (normal QF-PCR result but with a subsequent abnormal karyotype). There was 1 case among this group which QF-PCR should have identified. Within the CVS group, 7 patients had discrepant results. All had a diploid QF-PCR and would not have been identified as abnormal by it. Conclusion PCR can be reliably used to determine aneuploidy of chromosomes 13, 18, and 21. However, in cases of sex chromosome aneuploidy, its performance is less reliable and warrants waiting for a complete karyotype. Given such discordance, we advise waiting for karyotype for all invasive tests performed in the presence of a normal ultrasound before advising a patient of a diploid QF-PCR result or potentially terminating a normal pregnancy.

scholarly journals 160 Factors that influence acceptance of invasive prenatal testing among women with high-risk for fetal aneuploidy

2021 ◽  
Vol 224 (2) ◽  
pp. S109
Author(s):  
Tamandra Morgan ◽  
Danielle C. Tan ◽  
Micaela Della Torre ◽  
Tia Jackson-Bey ◽  
Laura DiGiovanni ◽  
...  
Keyword(s):  
High Risk ◽  
Prenatal Testing ◽  
Fetal Aneuploidy

Social Dimensions of Genetic Disorders

1992 ◽  
Vol 14 (1) ◽  
pp. 10-13 ◽  
Author(s):  
Joan Ablon
Keyword(s):  
Health Education ◽  
Infant Mortality ◽  
Genetic Disease ◽  
Genetic Factors ◽  
Genetic Disorders ◽  
Genetic Defects ◽  
Social Dimensions ◽  
Live Births ◽  
Department Of Health ◽  
Recessive Genes

Each of us carries between 4-8 recessive genes for serious genetic defects, and, hence, stands a statistical chance of passing on a serious or lethal condition to each child… 12 million Americans carry true genetic disease due wholly or partly to defective genes or chromosomes…40 percent or more of all infant mortality results from genetic factors…4.8 to 5 percent of all live births have genetic defects. (U.S. Department of Health, Education, and Welfare. "What are the Facts About Genetic Disease?" National Inst. of Gen. Med. Scs., P.H.S., N.I.H. DHEW Pub. No. (NIH), 75-370, 1975.)

The Adverse Health Outcomes, Economic Burden, and Public Health Implications of Unmanaged Attention Deficit Hyperactivity Disorder (ADHD): A Call to Action Resulting from CHADD Summit, Washington, DC, October 17, 2019

2021 ◽  
pp. 108705472110367
Author(s):  
Bob Cattoi ◽  
Ingrid Alpern ◽  
Jeffrey S. Katz ◽  
David Keepnews ◽  
Mary V. Solanto
Keyword(s):  
Public Health ◽  
Health Care ◽  
Health Outcomes ◽  
Health Care Providers ◽  
Economic Burden ◽  
Emotional Health ◽  
Care Providers ◽  
Health Implications ◽  
Adverse Health ◽  
Adverse Health Outcomes

Recent research has increasingly documented the adverse effects of ADHD on physical health in addition to its well-known effects on emotional health. Responding to this concern, CHADD organized a summit meeting of health care providers, governmental and other health-related organizations, and health care payers. A White Paper generated from the meeting reviewed the adverse health outcomes, economic burden and public health implications of unmanaged ADHD. Here we summarize the resulting Calls to Action to the various stakeholder groups including: increased awareness and education of providers; development of professional guidelines for diagnosis and treatment; insurance coverage of the relevant services; support of research targeting the role of ADHD in the etiology and treatment of physical illness; and public education campaigns.

scholarly journals Chikungunya virus outbreak-a threat to global public health including Bangladesh

2018 ◽  
Vol 17 (2) ◽  
pp. 183-184 ◽  
Author(s):  
Abdullah Al Mahdy ◽  
Mostofa Jamal ◽  
Hiroshi Kinoshita ◽  
Tareq Hossan
Keyword(s):  
Public Health ◽  
Chikungunya Virus ◽  
Medical Science ◽  
Global Public Health

Abstract not availableBangladesh Journal of Medical Science Vol.17(2) 2018 p.183-184

scholarly journals Thematic atlas of Italian oncological research: the analysis of public IRCCS

2021 ◽  
pp. 109-114
Author(s):  
Corrado Cuccurullo ◽  
Luca D’Aniello ◽  
Maria Spano
Keyword(s):  
Public Health ◽  
Health System ◽  
Quantitative Research ◽  
Public Health System ◽  
Medical Science ◽  
Large Body ◽  
Past Research ◽  
Research Area ◽  
Big Picture ◽  
The Many

This paper has been developed in the frame of the research project “V:ALERE 2019” focused on Italian public-owned Academic Medical Centers. The main aim of the project is to provide evidence, advice, and remarks to help the agents of the public health system to address the many challenges that they face. In recent years, there is an increasing recognition of the potential value of research evidence as one of the many factors considered by policymakers and practitioners. Even more, in the case of medical science, the analysis of research and its impact is indispensable, in light of its implications for public health. The starting point for mapping a research area is to review the related scientific literature because by synthesizing past research findings, it is possible to effectively use the existing knowledge base and advance lines of future researches. In this sense, bibliometrics becomes useful, by providing a structured analysis to a large body of information, to infer trends over time, themes researched, and to show the “big picture” of extant research. In particular, in this work, we focus our attention on the scientific production of the last 20 years of the Scientific Institutes for Research, Hospitalization, and Healthcare (IRCCS “Istituto di Ricovero e Cura a Carattere Scientifico”) specialized in the oncology research. IRCCS are biomedical institutions of relevant national interest that drive clinical assistance in strong relation to research activities. They are committed to being a benchmark for the whole public health system for both the quality of patient care and the innovation skills in the field of the organization. All the analyses were carried out by using the Bibliometrix, an open-source tool for quantitative research in scientometrics and bibliometrics that includes all the main bibliometric methods of analysis.

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