scholarly journals Patients’ preimplantation genetic testing decision-making experience: an opinion on related psychological frameworks

2019 ◽  
Vol 2019 (4) ◽  
Author(s):  
L M Pastore ◽  
C N Cordeiro Mitchell ◽  
L R Rubin ◽  
J Nicoloro-SantaBarbara ◽  
M C Genoff Garzon ◽  
...  
Keyword(s):  
Decision Making ◽  
Genetic Testing ◽  
Conceptual Framework ◽  
Psychological Theory ◽  
Well Being ◽  
Situational Factors ◽  
Monogenic Disease ◽  
Patient Counseling ◽  
Contributing Factors ◽  
Preimplantation Genetic Testing

Abstract The process of deciding whether to pursue preimplantation genetic testing (PGT) of an embryo is highly stressful for individuals and couples and has adverse emotional consequences (e.g. distress and uncertainty). PGT influences patients’ lives in both positive and negative ways and is experienced at an individual level, as a dyadic unit, as a family member and as part of the society. Here, we argue that providing a conceptual framework with which to understand the `experience of decision making’ about PGT for monogenic disease (PGT-M) testing specifically, as well as the factors contributing to `decisional distress’ and `uncertainty’ that patients endure as a result—apart from what decision they make—is crucial to optimizing patient counseling, satisfaction and outcomes in the field of ART. Derived from psychological theory, the framework proposed here identifies three categories of contributing factors to decisional distress and uncertainty in considering PGT-M; namely, ‘intraindividual’, ‘interpersonal’ and ‘situational’ factors. We reviewed evidence from the PGT literature to inform our framework. Well-accepted theories of stress and health decision making were also reviewed for their relevance to PGT-M decision making, focusing on potential distress and uncertainty. Our novel conceptual framework can be used to inform clinical practice, to advance research and to aid the development of interventions for individuals and couples who are deciding whether or not to use PGT-M. Alleviating emotional distress and uncertainty can improve patients’ well-being during their reproductive journey.

scholarly journals Haplotyping by linked-read sequencing (HLRS) of the genetic disease carriers for preimplantation genetic testing without a proband or relatives

2020 ◽  
Author(s):  
Qing Li ◽  
Yan Mao ◽  
Shaoying Li ◽  
Hongzi Du ◽  
Wenzhi He ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Genetic Disease ◽  
De Novo ◽  
Monogenic Disease ◽  
Nucleotide Polymorphisms ◽  
De Novo Mutations ◽  
Preimplantation Genetic Testing ◽  
Linkage Analyses ◽  
Alpha Thalassemia ◽  
Polar Bodies

Abstract Background: In order to mitigate the risk of allele dropout (ADO) and ensure the accuracy of preimplantation genetic testing for monogenic disease (PGT-M), it is necessary to construct parental haplotypes.. Typically, haplotype resolution is obtained by genotyping multiple polymorphic markers in both parents and a proband or a relative. Sometimes, single sperm typing, or tests on the polar bodies may also be useful. Nevertheless, this process is time-consuming. At present, there was no simple linkage analysis strategy for patients without affected relatives.Method: To solve this problem, we established a haplotyping by linked-read sequencing (HLRS) method without the requirement for additional relatives. First, the haplotype of the genetic disease carriers in the family was constructed by linked-read sequencing, and then the informative single nucleotide polymorphisms (SNPs) in upstream and downstream mutation region were selected to construct the embryo haplotype and to determine whether the embryo was carrying the mutation. Two families were selected to validate this method; one with alpha thalassemia and the other with NDP gene disorder.Results: The haplotyping by linked-read sequencing (HLRS) method was successfully applied to construct parental haplotypes without recruiting additional family members; the method was also validated for PGT-M. The mutation carriers in these families were sequenced by linked-read sequencing, and their haplotypes were successfully phased. Adjacent SNPs of the mutation gene were identified. The informative SNPs were chosen for linkage analyses to identify the carrier embryos. For the alpha thalassemia family, a normal blastocyst was transferred to the uterus and the accuracy of PGT-M was confirmed by amniocentesis at 16 weeks of gestation. Conclusions: Our results suggest that HLRS can be applied for PGT-M of monogenic disorders or de novo mutations where the mutations haplotype cannot be determined due to absence of affected relatives. Keywords: Preimplantation Genetic Testing for monogenic disease, Linked-read sequencing, Linkage analyses, Haplotype

68. PREIMPLANTATION GENETIC TESTING OF MONOGENIC DISEASE: EXPERIENCE IN RUSSIA

2019 ◽  
Vol 39 ◽  
pp. e68-e69
Author(s):  
S. Zhikrivetskaya Olegovna ◽  
Y. Volkova Leonidovna ◽  
E. Musatova Valerievna ◽  
Y. Sofronova Vladislavovna ◽  
N. Shirokova Anatolievna ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Monogenic Disease ◽  
Preimplantation Genetic Testing ◽  
Disease Experience

scholarly journals PREIMPLANTATION GENETIC TESTING: Preimplantation genetic testing for polygenic disease risk

Reproduction ◽  
2020 ◽  
Vol 160 (5) ◽  
pp. A13-A17 ◽  
Author(s):  
Nathan R Treff ◽  
Diego Marin ◽  
Louis Lello ◽  
Stephen Hsu ◽  
Laurent C A M Tellier
Keyword(s):  
Clinical Practice ◽  
Genetic Testing ◽  
Disease Risk ◽  
Population Level ◽  
Standard Of Care ◽  
Primary Objective ◽  
Monogenic Disease ◽  
Preimplantation Genetic Testing ◽  
Polygenic Disease ◽  
Risk Scoring

Since its introduction to clinical practice, preimplantation genetic testing (PGT) has become a standard of care for couples at risk of having children with monogenic disease and for chromosomal aneuploidy to improve outcomes for patients with infertility. The primary objective of PGT is to reduce the risk of miscarriage and genetic disease and to improve the success of infertility treatment with the delivery of a healthy child. Until recently, the application of PGT to more common but complex polygenic disease was not possible, as the genetic contribution to polygenic disease has been difficult to determine, and the concept of embryo selection across multiple genetic loci has been difficult to comprehend. Several achievements, including the ability to obtain accurate, genome-wide genotypes of the human embryo and the development of population-level biobanks, have now made PGT for polygenic disease risk applicable in clinical practice. With the rapid advances in embryonic polygenic risk scoring, diverse considerations beyond technical capability have been introduced.

scholarly journals Synthesis of Two Decades of US EPA’s Ecosystem Services Research to Inform Environmental, Community and Sustainability Decision Making

2021 ◽  
Vol 13 (15) ◽  
pp. 8249
Author(s):  
Matthew C. Harwell ◽  
Chloe A. Jackson
Keyword(s):  
Decision Making ◽  
Ecosystem Services ◽  
Conceptual Framework ◽  
Well Being ◽  
Services Research ◽  
Holistic View ◽  
Structured Decision Making ◽  
Decision Context ◽  
Challenges And Opportunities ◽  
Us Epa

A conceptual framework is helpful to understand what types of ecosystem services (ES) information is needed to support decision making. Principles of structured decision making are helpful for articulating how ES consideration can influence different elements in a given decision context resulting in changes to the environment, human health, and well-being. This article presents a holistic view of an ES framework, summarizing two decades of the US EPA’s ES research, including recent advances in final ES, those ES that provide benefits directly to people. Approximately 150 peer-reviewed publications, technical reports, and book chapters characterize a large ES research portfolio. In introducing framework elements and the suite of relevant US EPA research for each element, both challenges and opportunities are identified. Lessons from research to advance each of the final ES elements can be useful for identifying gaps and future science needs. Ultimately, the goal of this article is to help the reader develop an operational understanding of the final ES conceptual framework, an understanding of the state of science for a number of ES elements, and an introduction to some ES tools, models, and frameworks that may be of use in their case-study applications or decision-making contexts.

scholarly journals Sonographic abnormalities in pregnancies conceived following IVF with and without preimplantation genetic testing for aneuploidy (PGT-A)

2021 ◽  
Author(s):  
Carrie K. Riestenberg ◽  
Thalia Mok ◽  
Jessica R. Ong ◽  
Lawrence D. Platt ◽  
Christina S. Han ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Diagnostic Testing ◽  
Prenatal Testing ◽  
Nuchal Translucency ◽  
Second Trimester ◽  
Patient Counseling ◽  
Fetal Anomalies ◽  
Preimplantation Genetic Testing ◽  
Ultrasound Findings ◽  
Natural Conception

Abstract Purpose To report the rate of fetal anomalies detected on anatomy ultrasound in pregnant patients who underwent IVF with preimplantation genetic testing for aneuploidy (PGT-A) compared to patients who conceived following IVF with unscreened embryos and age-matched patients with natural conceptions. Methods Retrospective cohort study at a single maternal-fetal medicine practice. Patients with singleton pregnancies who had a mid-trimester anatomy ultrasound between January 2017 and December 2018 were screened for inclusion. A total of 712 patients who conceived after IVF with or without PGT-A were age-matched with natural conception controls. The primary outcome was the rate of fetal and placental anomalies detected on mid-trimester anatomical survey. Secondary outcomes included the rates of abnormal nuchal translucency (NT), second trimester serum analytes, non-invasive prenatal testing (NIPT), and invasive diagnostic testing. Result(s) There were no differences in the rate of fetal anomalies in patients who underwent IVF with PGT-A compared to patients who conceived following IVF with unscreened embryos and age-matched patients with natural conceptions. Rate of abnormal NT, high-risk NIPT, and abnormal invasive diagnostic testing were also similar. Patients who conceived after IVF with or without PGT-A had higher rates of abnormal placental ultrasound findings and abnormal second trimester serum analytes compared to natural conception controls. Conclusion The use of PGT-A was not associated with a difference in risk of fetal anomaly detection on a mid-trimester anatomical survey. The results of this study highlight the importance of improved patient counseling regarding the limitations of PGT-A, and of providing standard prenatal care for pregnancies conceived through ART, regardless of whether PGT-A was performed.

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