scholarly journals The application of late amniocentesis: a retrospective study in a tertiary fetal medicine center in China

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yingting Li ◽  
Huanchen Yan ◽  
Jingsi Chen ◽  
Fei Chen ◽  
Wei Jian ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Genetic Test ◽  
Late Onset ◽  
Copy Number Variations ◽  
Chromosomal Microarray ◽  
Control Group ◽  
Chromosomal Microarray Analysis ◽  
Test Results ◽  
Detection Rates ◽  
Genetic Test Results

Abstract Background To assess the indications and complications of late amniocentesis and the advanced genetic test results in a tertiary university fetal medical medicine unit. Methods In this retrospective study, women that underwent amniocentesis at 24+ 0 to 39+ 4 weeks, between January 2014 and December 2019, were recruited. Indications, complications, genetic test results, and pregnancy outcomes were reported for each pregnancy and compared with those who underwent the traditional amniocentesis at 16+ 0 to 23+ 6 weeks (control group). Information was retrieved from patient medical records, checked by research staff, and analyzed. Results Of the 1287 women (1321 fetuses) included in the late amniocentesis group, late detected sonographic abnormalities (85.5%) were the most common indication. The overall incidence of preterm birth and intrauterine demise after amniocentesis were 2.5 and 1.3%, respectively. Sixty-nine fetuses with aneuploidy (5.3%) and seventy-two fetuses with pathogenic copy number variations (5.5%) were identified by chromosomal microarray analysis. The maximal diagnostic yield (70%) was in the subgroup of fetuses with the abnormal diagnostic test results, followed by abnormal NIPT results (35.7%) and multiple abnormalities (23.8%). And 35.4% of the pregnancies were finally terminated. Conclusions Due to the high detection rates of advanced genetic technologies and the safety of the invasive procedure (3.9% vs 4.0%), it is reasonable to recommend late amniocentesis as an effective and reliable method to detect late-onset fetal abnormalities. However, chromosomal microarray and whole-exome sequencing may result in uncertain results like variants of uncertain significance. Comprehensive genetic counseling is necessary.

scholarly journals The Application of Late Amniocentesis: A Retrospective Study in a Tertiary Fetal Medicine Center in China

2020 ◽  
Author(s):  
Yingting Li ◽  
Huanchen Yan ◽  
Jingsi Chen ◽  
Fei Chen ◽  
Wei Jian ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Copy Number ◽  
Genetic Test ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Test Results ◽  
Whole Exome ◽  
Genetic Test Results

Abstract Background: To assess the indications and complications of late amniocentesis, and the advantage of advanced genetic test results in a tertiary university fetal medical medicine unit.Methods: In this retrospective study, women that underwent amniocentesis at 24+0 to 39+4 weeks, between January 2014 and December 2019, were recruited. Indications, complications, genetic test results, and pregnancy outcomes were reported for each pregnancy. Information was retrieved from patient medical records, checked by research staff, and analyzed. Results: Of the 1277 women (1311 fetuses) included, late detected sonographic abnormalities (86.2%) were the most common indication. The overall preterm birth and intrauterine demise rate were 2.6% and 1.2%, respectively, after amniocentesis. Sixty-six fetuses with aneuploidy (5.1%) and sixty-seven fetuses with pathogenic copy number variations (5.1%) were identified by chromosomal microarray analysis. One pathogenic copy number variation was detected by whole-exome sequencing. The maximal diagnostic yield (36.1%) was in the subgroup of fetuses with the abnormal noninvasive prenatal test, following by multiple abnormalities (23.8%). And 35.8% of the pregnancies were finally terminated.Conclusions: Due to the high detection rates of advanced genetic technologies and safety of the invasive procedure, it is reasonable to recommend late amniocentesis as an effective and credible method to detect late-onset fetal abnormalities. However, chromosomal microarray and whole-exome sequencing may result in uncertain results like variants of uncertain significance. Therefore, comprehensive genetic counseling is necessary.

Parents' long-term adjustment to the genetic test results of minors at risk for Long QT Syndrome

2004 ◽  
Author(s):  
K. S. W. H. Hendriks ◽  
F. J. M. Grosfeld ◽  
A. A. M. Wilde ◽  
J. van den Bout ◽  
I. M. van Langen ◽  
...  
Keyword(s):  
At Risk ◽  
Long Qt Syndrome ◽  
Genetic Test ◽  
Test Results ◽  
Long Qt ◽  
Genetic Test Results ◽  
Qt Syndrome

Metagnosis

2020 ◽  
Author(s):  
Danielle Spencer
Keyword(s):  
Real World ◽  
Genetic Test ◽  
Narrative Medicine ◽  
Test Results ◽  
Diagnostic Categories ◽  
Genomic Knowledge ◽  
Blade Runner ◽  
Genetic Test Results ◽  
Scant Attention ◽  
Productive Model

This book identifies and names the phenomenon of metagnosis: the experience of newly learning in adulthood of a long-standing condition. It can occur when the condition has remained undetected (e.g., colorblindness) and/or when the diagnostic categories themselves have shifted (e.g., ADHD). More broadly, it can occur with unexpected revelations bearing upon selfhood, such as surprising genetic test results. This phenomenon has received relatively scant attention, yet learning of an unknown condition is frequently a significant and bewildering revelation, subverting narrative expectations and customary categories. In addressing the topic this book deploys an evolution of narrative medicine as a robust research methodology comprising interdisciplinarity, narrative attentiveness, and creating a writerly text. Beginning with the author’s own experience of metagnosis, it explores the issues it raises—from communicability to narrative intelligibility to different ways of seeing. Next, it traces the distinctive metagnostic narrative arc through the stages of recognition, subversion, and renegotiation, discussing this trajectory in light of a range of metagnostic experiences, from Blade Runner to real-world midlife diagnoses. Finally, it situates metagnosis in relation to genetic revelations and the broader discourses concerning identity. Proposing that the figure of blindsight—drawn from the author’s metagnostic experience—offers a productive model for negotiating such revelations, the book suggests that better understanding metagnosis will not simply aid those directly affected but will also serve as a bellwether for how we will all navigate advancing biomedical and genomic knowledge, and how we may fruitfully interrogate the very notion of identity.

scholarly journals Development of a Web-Based Query Tool for Quality Assurance of Clinical Molecular Genetic Test Results

2007 ◽  
Vol 9 (1) ◽  
pp. 95-98 ◽  
Author(s):  
Matthew J. McGinniss ◽  
Rebecca Chen ◽  
Victoria M. Pratt ◽  
Arlene Buller ◽  
Franklin Quan ◽  
...  
Keyword(s):  
Quality Assurance ◽  
Genetic Test ◽  
Molecular Genetic ◽  
Test Results ◽  
Web Based ◽  
Genetic Test Results ◽  
Query Tool ◽  
Molecular Genetic Test

Patient recommendations for content and design for electronic return of genetic test results: An interview study among patients who accessed their genetic test results online (Preprint)

2021 ◽  
Author(s):  
Diane M Korngiebel ◽  
Kathleen McGlone West
Keyword(s):  
Patient Preferences ◽  
Genetic Test ◽  
Smartphone Application ◽  
Patient Portal ◽  
Genetic Test Result ◽  
Test Results ◽  
User Centered Design ◽  
Detailed Report ◽  
Genetic Test Results ◽  
Test Result

BACKGROUND Genetic test results will be increasingly made available electronically as more patient-facing tools are developed; however, little research has been done that collects patient preferences for content and design before creating results templates. OBJECTIVE This study identifies patient preferences for electronic return of genetic test results, including what considerations should be prioritized for content and design. METHODS Following User-Centered Design methods, 59 interviews were conducted using semi-structured protocols. The interviews explored content and design issues for patient portal results return for patients who received electronic results for specific types of genetic tests (pharmacogenomic, hereditary blood disorders, and positive and negative risk results for heritable cancers) or who had electronically received any type of genetic test result as well as a non-genetic test result. RESULTS In general, a majority of participants felt that there always needed to be some clinician involvement in electronic results return and that electronic coversheets with simple summaries would be helpful for facilitating that. Coversheet summaries could accompany, but not replace, the more detailed report. Participants had specific suggestions for those results summaries, such as only reporting the information that was most important for patients to understand, including next steps, and to do so using clear language free of medical jargon. Electronic results return should also include explicit encouragement for patients to contact providers with questions. Finally, many participants preferred to manage their care using their smartphones, particularly in instances where they needed to access health information on the go. CONCLUSIONS Participants recommended that a patient-friendly front section accompany the more detailed report and made suggestions for organization, content, and wording. Many used their smartphones regularly to access test results, therefore, health systems and patient portal software vendors should accommodate smartphone application design and web portal design concomitantly when developing results return platforms. CLINICALTRIAL N/A

scholarly journals Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results

2017 ◽  
Vol 3 (1) ◽  
Author(s):  
Yana Smagarinsky ◽  
Charlotte Burns ◽  
Catherine Spinks ◽  
Christopher Semsarian ◽  
Jodie Ingles
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Genetic Test ◽  
Test Results ◽  
Communication Aid ◽  
Genetic Test Results
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