Review
Medicine, General & Internal
Jens Kjeldsen-Kragh, Asa Hellberg
Summary: HDFN and FNAIT are two important diseases caused by maternal antibodies, and accurate determination of RhD or HPA-1a type of the fetus is crucial for their management. Noninvasive fetal RhD typing technology poses challenges but is of significant importance in providing antenatal RhD prophylaxis and determining the risk of FNAIT.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Health Care Sciences & Services
Marcin Orzechowski, Cristian Timmermann, Katarzyna Woniak, Oxana Kosenko, Galina Lvovna Mikirtichan, Alexandr Zinovievich Lichtshangof, Florian Steger
Summary: The study explores the opinions and attitudes of gynecologists in Germany, Poland, and Russia on prenatal testing, highlighting challenges such as inadequate resources, information quality, and ethical issues. The connection of prenatal medicine with the politically and socially contentious issue of pregnancy termination is visible in all three countries.Respondents focus on issues such as routine testing ethics in Germany, and fair access to testing in Poland and Russia.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Review
Medicine, General & Internal
Malak Abedalthagafi, Shahad Bawazeer, Romy I. Fawaz, A. Merrihew Heritage, Nouf M. Alajaji, Eissa Faqeih
Summary: Non-invasive prenatal testing (NIPT) is a pioneering technique that detects genetic abnormalities and diseases, aiming to decrease the incidence of inherited conditions. However, the impact of expanding the range of conditions should be carefully considered, and the predictive values of different tests need to be validated. Genetic counseling is important before and after testing.
FRONTIERS IN MEDICINE
(2023)
Article
Genetics & Heredity
Jalayne J. Arias, Ana M. Tyler, Michael P. Douglas, Kathryn A. Phillips
Summary: Analysis reveals that most private payers' coverage policies have a negative stance towards ApoE genetic testing, citing lack of clinical utility. Rationales for the policies include referencing guidelines or national standards, inadequate supporting data for testing, labeling testing as investigational, and belief that testing would not alter patients' clinical management.
GENETICS IN MEDICINE
(2021)
Article
Genetics & Heredity
Julia Wynn, Jennifer Hoskovec, Rebecca D. Carter, Meredith J. Ross, Sriram C. Perni
Summary: This study validates the clinical performance of carrier screening with reflex to single-gene noninvasive prenatal testing (sgNIPT) in a general population setting. The results show high concordance with sgNIPT, with a sensitivity of 96.0% and specificity of 95.2%. This method is highly accurate and suitable for general pregnant population.
PRENATAL DIAGNOSIS
(2023)
Article
Obstetrics & Gynecology
Alicia A. Christensen, Pamela B. Parker, Alyssa R. Hersh, Aaron B. Caughey, Sacha A. Krieg
Summary: This study investigated the cost-effectiveness of in vitro fertilization (IVF) with preimplantation genetic testing for monogenic disease in heterozygous individuals with Huntington disease. The results showed that IVF with preimplantation genetic testing is a cost-effective strategy compared to unassisted conception with prenatal diagnosis.
FERTILITY AND STERILITY
(2022)
Article
Psychology, Multidisciplinary
Shuhei Shiino, Nelleke Corine van Wouwe, Scott A. A. Wylie, Daniel O. O. Claassen, Katherine E. E. McDonell
Summary: This study investigated the temporal dynamics of action impulse control in Huntington disease (HD) patients using an inhibitory action control task. The results showed that HD patients had slower and less accurate reactions, as well as an exacerbated interference effect. However, they still preserved the ability to suppress impulsivity.
FRONTIERS IN PSYCHOLOGY
(2023)
Article
Anthropology
Tsipy Ivry, Maki Ogawa, Jun Murotsuki
Summary: This article examines the importance of indecisiveness in ethical deliberations within the context of genetic counseling in Japan, and emphasizes the need to evaluate the quality of these deliberations in order to understand how people seek a moral life.
CULTURAL ANTHROPOLOGY
(2023)
Article
Clinical Neurology
Fred B. Ketchum, Nathaniel A. Chin, Joshua Grill, Carey E. Gleason, Claire Erickson, Lindsay R. Clark, Jane S. Paulsen, Amy J. H. Kind
Summary: This article discusses the safety and psychological effects of AD biomarker testing, as well as the counseling and risk management before and after testing. It proposes a conceptual model to guide the different phases of testing.
ALZHEIMERS & DEMENTIA
(2022)
Review
Clinical Neurology
Hannah S. Bakels, Raymund A. C. Roos, Willeke M. C. van Roon-Mom, Susanne T. de Bot
Summary: Juvenile-onset Huntington disease is a rare form of the autosomal dominant brain disorder, accounting for approximately 5% of patients. It is characterized by distinct symptoms and signs, as well as more severe pathology of brain structures compared to adult-onset disease. Understanding the pathophysiological differences between juvenile- and adult-onset Huntington disease is crucial for developing new therapeutic strategies.
MOVEMENT DISORDERS
(2022)
Review
Biochemistry & Molecular Biology
Annalisa Tassone, Maria Meringolo, Giulia Ponterio, Paola Bonsi, Tommaso Schirinzi, Giuseppina Martella
Summary: Strong evidence suggests that the decline in mitochondrial function is correlated with degenerative diseases. Various types of neurodegenerative diseases, such as Huntington's chorea and Parkinson's disease, share mitochondrial bioenergy dysregulation as a common feature. These diseases have different manifestations and genetic factors, but they both involve neuronal dysfunction and striatal impairment. This review focuses on describing the onset and development of both diseases in relation to mitochondrial dysfunction.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Endocrinology & Metabolism
LillyBelle K. Deer, Chen Su, Natalie A. Thwaites, Elysia Poggi Davis, Jenalee R. Doom
Summary: Cardiovascular disease (CVD) is a global leading cause of death, with increasing prevalence. This review explores the link between prenatal stress-responsive hormones and adult CVD, via cardiometabolic risk and health behaviors. Evidence suggests that altered stress-responsive hormones during gestation predict higher cardiometabolic risk and poorer health behaviors in offspring. The review also highlights current limitations and discusses future directions for research.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Medicine, General & Internal
Gerardo Alfonso Perez, Javier Caballero Villarraso
Summary: This paper presents an approach to identify Huntington Disease patients using DNA CpG methylation data and non-linear techniques. By selecting specific CpG sites and employing methods like artificial neural networks, the approach accurately distinguishes between control and HD patients.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Public, Environmental & Occupational Health
Charles Dupras, Stanislav Birko, Aliya O. Affdal, Hazar Haidar, Marie-Eve Lemoine, Vardit Ravitsky
Summary: Non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) offers significant benefits and raises ethical, legal, and social concerns. A study conducted in Canada from 2015 to 2016 explored the social acceptability of NIPT, revealing both areas of consensus and areas of disagreement.
SOCIAL SCIENCE & MEDICINE
(2022)
Article
Genetics & Heredity
Ya Xing, Yun Zhang, Jianping Chen, Fengyu Wu, Meizhen Yuan, Gang Zou, Yingjun Yang, Fenhe Zhou, Jia Zhou, Luming Sun
Summary: This study investigated the use of chromosomal microarray (CMA) and exome sequencing (ES) in fetuses with congenital heart disease (CHD). The results showed that CMA should be offered as a first-line genetic test in pregnancies complicated by both isolated and non-isolated cardiac abnormalities. When CMA is non-diagnostic, ES can be considered to add diagnostic value.
PRENATAL DIAGNOSIS
(2022)