Prenatal Detection of Uniparental Disomies (UPD): Intended and Incidental Finding in the Era of Next Generation Genomics

Prenatal detection of uniparental disomy (UPD) is a methodological challenge, and a positive testing result requires comprehensive considerations on the clinical consequences as well as ethical issues. Whereas prenatal testing for UPD in families which are prone to UPD formation (e.g., in case of chromosomal variants, imprinting disorders) is often embedded in genetic counselling, the incidental identification of UPD is often more difficult to manage. With the increasing application of high-resolution test systems enabling the identification of UPD, an increase in pregnancies with incidental detection of UPD can be expected. This paper will cover the current knowledge on uniparental disomies, their clinical consequences with focus on prenatal testing, genetic aspects and predispositions, genetic counselling, as well as methods (conventional tests and high-throughput assays).

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Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing

Prenatal Diagnosis ◽

10.1002/pd.3849 ◽

2012 ◽

Vol 32 (4) ◽

pp. 389-395 ◽

Cited By ~ 72

Author(s):

George McGillivray ◽

Jill A Rosenfeld ◽

R. J. McKinlay Gardner ◽

Lynn H. Gillam

Keyword(s):

Microarray Analysis ◽

Genetic Counselling ◽

Ethical Issues ◽

Prenatal Testing ◽

Chromosome Microarray Analysis ◽

Chromosome Microarray

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Sarcopenic Obesity in Liver Cirrhosis: Possible Mechanism and Clinical Impact

International Journal of Molecular Sciences ◽

10.3390/ijms22041917 ◽

2021 ◽

Vol 22 (4) ◽

pp. 1917

Author(s):

Hiroki Nishikawa ◽

Hirayuki Enomoto ◽

Shuhei Nishiguchi ◽

Hiroko Iijima

Keyword(s):

Liver Cirrhosis ◽

Current Knowledge ◽

Protein Energy Malnutrition ◽

Public Health Problem ◽

Diagnostic Value ◽

Sarcopenic Obesity ◽

Important Public Health Problem ◽

Alcoholic Fatty Liver ◽

Protein Energy ◽

Clinical Consequences

The picture of chronic liver diseases (CLDs) has changed considerably in recent years. One of them is the increase of non-alcoholic fatty liver disease. More and more CLD patients, even those with liver cirrhosis (LC), tend to be presenting with obesity these days. The annual rate of muscle loss increases with worsening liver reserve, and thus LC patients are more likely to complicate with sarcopenia. LC is also characterized by protein-energy malnutrition (PEM). Since the PEM in LC can be invariable, the patients probably present with sarcopenic obesity (Sa-O), which involves both sarcopenia and obesity. Currently, there is no mention of Sa-O in the guidelines; however, the rapidly increasing prevalence and poorer clinical consequences of Sa-O are recognized as an important public health problem, and the diagnostic value of Sa-O is expected to increase in the future. Sa-O involves a complex interplay of physiological mechanisms, including increased inflammatory cytokines, oxidative stress, insulin resistance, hormonal disorders, and decline of physical activity. The pathogenesis of Sa-O in LC is diverse, with a lot of perturbations in the muscle–liver–adipose tissue axis. Here, we overview the current knowledge of Sa-O, especially focusing on LC.

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A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inherited

BMC Medical Genomics ◽

10.1186/s12920-021-01013-x ◽

2021 ◽

Vol 14 (1) ◽

Author(s):

Chunyan Jin ◽

Zhiping Gu ◽

Xiaohan Jiang ◽

Pei Yu ◽

Tianhui Xu

Keyword(s):

Down Syndrome ◽

Pregnant Woman ◽

Prenatal Testing ◽

Chromosome 21 ◽

Chromosomal Microarray ◽

Chromosomal Microarray Analysis ◽

Serological Screening ◽

Partial Duplication ◽

Her Family ◽

Clinical Consequences

Abstract Background Down syndrome is characterized by trisomy 21 or partial duplication of chromosome 21. Extensive studies have focused on the identification of the Down Syndrome Critical Region (DSCR). We aim to provide evidence that duplication of 21q21.1-q21.2 should not be included in the DSCR and it has no clinical consequences on the phenotype. Case presentation Because serological screening was not performed at the appropriate gestational age, noninvasive prenatal testing (NIPT) analysis was performed for a pregnant woman with normal prenatal examinations at 22 weeks of gestation. The NIPT results revealed a 5.8 Mb maternally inherited duplication of 21q21.1-q21.2. To assess whether the fetus also carried this duplication, ultrasound-guided amniocentesis was conducted, and the result of chromosomal microarray analysis (CMA) with amniotic fluid showed a 6.7 Mb duplication of 21q21.1-q21.2 (ranging from position 18,981,715 to 25,707,009). This partial duplication of 21q21.1-q21.2 in the fetus was maternally inherited. After genetic counseling, the pregnant woman and her family decided to continue the pregnancy. Conclusion Our case clearly indicates that 21q21.1-q21.2 duplication is not included in the DSCR and most likely has no clinical consequences on phenotype.

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Sex selection and non‐invasive prenatal testing: A review of current practices, evidence, and ethical issues

Prenatal Diagnosis ◽

10.1002/pd.5555 ◽

2020 ◽

Vol 40 (4) ◽

pp. 398-407 ◽

Cited By ~ 2

Author(s):

Hilary Bowman‐Smart ◽

Julian Savulescu ◽

Christopher Gyngell ◽

Cara Mand ◽

Martin B. Delatycki

Keyword(s):

Ethical Issues ◽

Prenatal Testing ◽

Sex Selection ◽

Non Invasive ◽

Current Practices

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Breast cancer susceptibility: current knowledge and implications for genetic counselling

European Journal of Human Genetics ◽

10.1038/ejhg.2008.212 ◽

2008 ◽

Vol 17 (6) ◽

pp. 722-731 ◽

Cited By ~ 112

Author(s):

Tim Ripperger ◽

Dorothea Gadzicki ◽

Alfons Meindl ◽

Brigitte Schlegelberger

Keyword(s):

Breast Cancer ◽

Genetic Counselling ◽

Cancer Susceptibility ◽

Current Knowledge ◽

Breast Cancer Susceptibility

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Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome

Hong Kong Medical Journal ◽

10.12809/hkmj154730 ◽

2016 ◽

Cited By ~ 1

Author(s):

KO Kou ◽

◽

CF Poon ◽

SL Kwok ◽

Kelvin YK Chan ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Detection Rate ◽

Down's Syndrome ◽

Prenatal Testing ◽

Down’S Syndrome ◽

Non Invasive ◽

Prenatal Detection ◽

Contingent Approach ◽

Prenatal Detection Rate

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Open Science and the Science-Society Relationship

Society ◽

10.1007/s12115-019-00361-w ◽

2019 ◽

Vol 56 (3) ◽

pp. 246-255 ◽

Cited By ~ 2

Author(s):

Martin Lakomý ◽

Renata Hlavová ◽

Hana Machackova

Keyword(s):

Public Engagement ◽

Science Communication ◽

Ethical Issues ◽

Current Knowledge ◽

Open Science ◽

Unintended Consequences ◽

Future Research ◽

The Public ◽

Science Society ◽

Scientific Institutions

Abstract Nowadays, the prevailing trend in the science-society relationship is to engage with the broader public, which is beneficial for the public, scientific institutes, scientific findings, and the legitimacy of science as a whole. This article provides a broad review of the rapidly growing research on Open Science and identifies the gaps in the current knowledge for future research. The review focuses on the science-society relationship, such that knowledge from this field is summarised and systematised. Insight into the most salient topics, including science communication, public engagement with science, public cognition of science, and challenges and potential unintended consequences connected to interactions with the public are examined. The first section of the paper focuses on science communication which involves efforts and approaches to inform the public about science by the most effective means. The section on public engagement reviews how scientists and scientific institutions are increasingly involved in direct interactions with the public and different groups of stakeholders to make science more open. The section focusing on public cognition of science provides information about public knowledge, perception, and trust regarding science, which both determines and is formed by public engagement. Last, risks, ethical issues, and data issues connected to the implementation of Open Science principles are reviewed, as there are many unintended consequences of Open Science which are examined by this current research. In conclusion, research covering the science-society relationship is rapidly growing. However, it brings multiple challenges as well as opportunities which are captured and discussed in a variety of existing studies. This article provides a coherent overview of this field in order to bring more comprehensible knowledge to scientists, scientific institutions, and outreach professionals.

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Incidental finding of unreported large duplication in F8 gene during prenatal analysis: Which management for genetic counselling?

Thrombosis Research ◽

10.1016/j.thromres.2019.08.004 ◽

2019 ◽

Vol 182 ◽

pp. 39-42

Author(s):

N. Lannoy ◽

C. Lambert ◽

A. Van Damme ◽

C. Hermans

Keyword(s):

Genetic Counselling ◽

Incidental Finding

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Genetic and family counselling for schizophrenia: Where do we stand now?

South African Journal of Psychiatry ◽

10.4102/sajpsychiatry.v22i1.831 ◽

2016 ◽

Vol 22 (1) ◽

pp. 6 ◽

Cited By ~ 1

Author(s):

Johannes L. Roos

Keyword(s):

Genetic Counselling ◽

Genetic Risk ◽

Ethical Issues ◽

Daily Basis ◽

Common Disease ◽

Treatment Team ◽

Monthly Basis ◽

Family Counselling ◽

Literature Searches ◽

Risk Predictors

Background: Recent genetic findings have led to profound changes in genetic and family counselling for schizophrenia patients and their families.Objectives: The article gives an overview of the present knowledge regarding the genetic and family counselling for schizophrenia.Method: Literature searches were performed on the MEDLINE database (2011–2015) and African Healthline. A current alert service which provides the most recent literature on the topic on a monthly basis was also used in the study. A clinical case example is presented as is experienced in daily psychiatric practice.Results: Genetic risk communication has become the responsibility of the multiprofessional treatment team, moving away from specialists in the field. The treatment team provides information on a daily basis regarding risk predictors in the management of schizophrenia, including risk of relapse, suicide and comorbid substance use. Although genetic information is unique and has implications for blood relatives, genetic risk factors only rarely provide information that is inherently different from that provided by other risk predictors commonly used in healthcare. The common variant common disease and rare variant common disease models as contrasting hypothesis of the genetics of schizophrenia are discussed and debated. An example of a family counselled is given and the place of commercial companies that offer directly to the consumer affordable personal DNA testing for psychiatric illness is discussed. Ethical issues without resolution regarding genetic counselling of schizophrenia are debated.Conclusions: Recent genetic findings must lead to profound changes in genetic and family counselling in schizophrenia. Exposed attributable risk has immediate effects on genetic counselling of schizophrenia. Psychiatric risk counselling has thus changed from risk estimates based on family history to estimates based on test results in specific individuals.

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