scholarly journals Training Non-Directiveness? A Transdisciplinary Survey of Medical Students' Perspective Towards Prenatal Counseling and Down Syndrome

2020 ◽  
Vol 4 (1) ◽  
pp. 141-171
Author(s):  
Thomas Dilen ◽  
Thomas Lefevre ◽  
Bram Mariën ◽  
Benjamin Munster ◽  
Fran Neven ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Medical Students ◽  
Health Care Professionals ◽  
Chromosomal Abnormalities ◽  
Prenatal Testing ◽  
Blood Analysis ◽  
Analysis Tool ◽  
Prenatal Counseling ◽  
Heterogeneous Distribution ◽  
Counseling Process

The non-invasive prenatal test (NIPT) is a highly sensitive blood analysis tool that allows for the early detection of multiple chromosomal abnormalities, including Down syndrome. Prenatal testing in general and a positive test outcome in particular leave pregnant parents facing difficult ethical decisions and life-changing dilemmas. The language used by medical practitioners in this context has the potential to exert a strong influence on parents in their decision-making process. During counseling, health care professionals (HCPs) are expected to encourage parents to make an informed yet autonomous decision, which hinges on maximally unbiased, clear and consistent communication from the HCP. It is still unclear whether medical students are aware of this importance of unbiased communication, how they perceive the role of HCPs in the prenatal counseling process, and what perspectives they have regarding the disabilities screened for. Our research project aims to address this gap, presenting the results of a transdisciplinary survey completed by 245 medical students at KU Leuven. In particular, the survey investigates: (1) the students' view on the ideal prenatal counseling process; (2) their knowledge of NIPT and Down syndrome (the most prevalent disability NIPT screens for); and (3) their general attitudes towards disabilities. Results reveal that more than 50% of medical students do not feel prepared for genetic counseling. The survey further shows a lack of knowledge and some clearly negative attitudes towards life with disability; 20% of medical students agree that a life with Down syndrome should be avoided. Overall, results indicate fairly heterogeneous distribution of knowledge and fairly diverse attitudes of the students, suggesting revisions in the current curriculum might be needed to increase the homogeneity towards counseling and disabilities in the medical student population.

Parenting the Child With Down Syndrome: Understanding—but Going Beyond—the “Down Syndrome Advantage”

2020 ◽  
Author(s):  
Robert M. Hodapp ◽  
Ellen G. Casale
Keyword(s):  
Socioeconomic Status ◽  
Down Syndrome ◽  
Behavior Problems ◽  
Prenatal Testing ◽  
Children With Autism ◽  
Facial Features ◽  
Cultural Resources ◽  
Noninvasive Prenatal Testing ◽  
Birth Parents ◽  
Children With Down Syndrome

Compared to parents of children with other types of intellectual disabilities, parents of children with Down syndrome experience less stress and more rewards, although this “Down syndrome advantage” mostly occurs compared to parents of children with autism and before groups are equated. Behaviorally, children with Down syndrome display more sociable interactional styles and baby-faced facial features, along with fewer instances of severe behavior problems. Demographically, parents of children with (versus without) Down syndrome average 5 years older when giving birth; parents are more often well educated, married, of higher socioeconomic status, and they likely provide these children greater financial and cultural resources. In most industrialized societies, rates of Down syndrome seem steady, with easily available, noninvasive prenatal testing counteracted by increasing numbers of women giving birth at older ages. Parenting children with Down syndrome relates to characteristics of children, their parents, and society, all of which intersect in important, underexplored ways.

scholarly journals Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 478
Author(s):  
Yunli Lai ◽  
Xiaofan Zhu ◽  
Sheng He ◽  
Zirui Dong ◽  
Yanqing Tang ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
False Negative ◽  
Prenatal Testing ◽  
Read Depth ◽  
Trisomy 13 ◽  
Prognostic Information ◽  
Aneuploidy Screening ◽  
Predictive Values ◽  
Risk Result

To evaluate the performance of noninvasive prenatal screening (NIPS) in the detection of common aneuploidies in a population-based study, a total of 86,262 single pregnancies referred for NIPS were prospectively recruited. Among 86,193 pregnancies with reportable results, follow-up was successfully conducted in 1160 fetuses reported with a high-risk result by NIPS and 82,511 cases (95.7%) with a low-risk result. The screen-positive rate (SPR) of common aneuploidies and sex chromosome abnormalities (SCAs) provided by NIPS were 0.7% (586/83,671) and 0.6% (505/83,671), respectively. The positive predictive values (PPVs) for Trisomy 21, Trisomy 18, Trisomy 13 and SCAs were calculated as 89.7%, 84.0%, 52.6% and 38.0%, respectively. In addition, less rare chromosomal abnormalities, including copy number variants (CNVs), were detected, compared with those reported by NIPS with higher read-depth. Among these rare abnormalities, only 23.2% (13/56) were confirmed by prenatal diagnosis. In total, four common trisomy cases were found to be false negative, resulting in a rate of 0.48/10,000 (4/83,671). In summary, this study conducted in an underdeveloped region with limited support for the new technology development and lack of cost-effective prenatal testing demonstrates the importance of implementing routine aneuploidy screening in the public sector for providing early detection and precise prognostic information.

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

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.

scholarly journals Knowledge, attitudes and behaviours towards vaccination: a survey of university students in Europe

2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
A Callegaro ◽  
L Chinenye Ilogu ◽  
O Lugovska ◽  
S Mazzilli ◽  
A Prugnola ◽  
...  
Keyword(s):  
Health Care ◽  
Medical Students ◽  
Health Care Professionals ◽  
Online Survey ◽  
Educational Interventions ◽  
Cross Sectional ◽  
High Level ◽  
Coverage Rates ◽  
The University ◽  
Vaccination Knowledge

Abstract Background Immunisation programs are still facing substantial challenges in achieving target coverage rates. This has been attributed to the growing negative individual vaccination attitudes and behaviours. Most of the current studies assessing vaccination knowledge, attitude and beliefs targets adults. However, young people represent future parents and health care professionals. The objective of this study was to investigate vaccination knowledge attitudes and behaviours among university medical and non-medical students in Europe. Methods We performed a cross-sectional online survey between April and July 2018. The study participants were students attending different faculties at the University of Antwerp, Belgium and the University of Pisa, Italy. We described sample characteristics. The effect of risk factors was tested with univariate and multivariate logistic regressions. Results A total of 2079 participants completed the survey including 873 medical students and 1206 from other faculties. The average of vaccination knowledge, attitudes, and confidence was respectively 5.51 (SD: 1.41), 4.66 (SD: 0.14) and 5.28 (SD: 0.57) on the 6-points scale. Our respondents demonstrated a high level of awareness with respect to their vaccination history. In total, 67.7% (n = 1407) reported to have received at least one vaccine in the previous five years; only 6.0% (n = 35) did not receive any vaccine in the previous 10 years. According to logistic regression analysis Italian students had significantly higher knowledge, attitude and confidence scores than Belgium respondents. Students of medicine scored significantly higher compared to non-medical students. Conclusions In order to reduce the gaps in vaccinations knowledge between non-medical and medical students we should plan educational interventions. In this way the number of future sceptical parents could be decreased. Further studies are required to explain the differences between countries. Key messages Young adults are the parents and the health care professionals of the future, for this reason their vaccination knowledge attitudes and behaviours should be carefully monitored. European non-medical students have lower vaccinations knowledge, attitudes and confidence compared with medical student. In order to fill these gaps, we should plan educational interventions.

Non-invasive prenatal testing for Down syndrome

2014 ◽  
Vol 19 (1) ◽  
pp. 9-14 ◽  
Author(s):  
Philip Twiss ◽  
Melissa Hill ◽  
Rebecca Daley ◽  
Lyn S. Chitty
Keyword(s):  
Down Syndrome ◽  
Prenatal Testing ◽  
Non Invasive

Lung disease manifestations in Down Syndrome

2021 ◽  
Author(s):  
Soula Danopoulos ◽  
Gail H. Deutsch ◽  
Claire Dumortier ◽  
Thomas Jay Mariani ◽  
Denise Al Alam
Keyword(s):  
Down Syndrome ◽  
Lung Disease ◽  
Chromosomal Abnormalities ◽  
Respiratory Illness ◽  
Multiple Organ ◽  
Upper Airways ◽  
Live Births ◽  
Organ Systems ◽  
Entire Lung ◽  
Lower Airways

Down Syndrome (DS) is one of the most prevalent chromosomal abnormalities world-wide, affecting 1 in 700 live births. Although multiple organ systems are affected by the chromosomal defects, respiratory failure and lung disease are the leading causes of morbidity and mortality observed in DS. Manifestations of DS in the respiratory system encompass the entire lung starting from the nasopharynx, trachea/upper airways to the lower airways and alveolar spaces, as well as vascular and lymphatic defects. Most of our knowledge on respiratory illness in persons with DS arises from pediatric studies, however many of these disorders present early in infancy supporting developmental mechanisms. In this review we will focus on the different lung phenotypes in DS, as well as the genetic and molecular pathways that may be contributing to these complications during development.

Videoconferencing for Continuing Medical Education: From Pilot Project to Sustained Programme

2002 ◽  
Vol 8 (3) ◽  
pp. 131-137 ◽  
Author(s):  
Michael Allen ◽  
Joan Sargeant ◽  
Eileen MacDougall ◽  
Michelle Proctor-Simms
Keyword(s):  
Health Care ◽  
Distance Education ◽  
Medical Education ◽  
Medical Students ◽  
Continuing Medical Education ◽  
Health Care Professionals ◽  
Pilot Project ◽  
Technical Support ◽  
Faculty Support

Videoconferencing has been used to provide distance education for medical students, physicians and other health-care professionals, such as nurses, physiotherapists and pharmacists. The Dalhousie University Office of Continuing Medical Education (CME) has used videoconferencing for CME since a pilot project with four sites in 1995–6. Since that pilot project, videoconferencing activity has steadily increased; in the year 1999–2000, a total of 64 videoconferences were provided for 1059 learners in 37 sites. Videoconferencing has been well accepted by faculty staff and by learners, as it enables them to provide and receive CME without travelling long distances. The key components of the development of the videoconferencing programme include planning, scheduling, faculty support, technical support and evaluation. Evaluation enables the effect of videoconferencing on other CME activities, and costs, to be measured.

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