Article
Health Care Sciences & Services
Kelly E. Ormond, Maia J. Borensztein, Miranda L. G. Hallquist, Adam H. Buchanan, William Andrew Faucett, Holly L. Peay, Maureen E. Smith, Eric P. Tricou, Wendy R. Uhlmann, Karen E. Wain, Curtis R. Coughlin
Summary: The research identified core concepts essential for informed consent for genetic testing through an expert consensus process, including the voluntary nature of testing, test recommendations and results, family impact, and potential risks.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Genetics & Heredity
Pascale Kleinfinger, Armelle Luscan, Lea Descourvieres, Daniela Buzas, Aicha Boughalem, Stephane Serero, Mylene Valduga, Detlef Trost, Jean-Marc Costa, Alexandre J. Vivanti, Laurence Lohmann
Summary: This study describes the experience of using noninvasive prenatal testing (NIPT) in a large population of vanishing twin (VT) pregnancies, and finds that it is an effective screening method for trisomy 21 in surviving fetuses. However, caution should be exercised when interpreting positive results for trisomies 18 and 13, and ultrasound monitoring is preferable over invasive diagnostic testing.
Article
Medicine, General & Internal
Angelika Buczynska, Iwona Sidorkiewicz, Slawomir Lawicki, Adam Jacek Kretowski, Monika Zbucka-Kretowska
Summary: The study found elevated levels of DNA/RNA oxidative stress damage products and asprosin, as well as decreased levels of vitamin D and A1AT in pregnancies with trisomy 21. Plasma asprosin demonstrated the highest screening utility for T21 prenatal screening.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Genetics & Heredity
Christian M. Parobek, Melissa L. Russo, Adam K. Lewkowitz
Summary: The study found that most laboratories use prenatal genetic information for research and share genetic information with others. However, laboratories inadequately disclosed privacy risks, and the readability of most genetic privacy policies was high.
GENETICS IN MEDICINE
(2021)
Article
Public, Environmental & Occupational Health
Shuxian Wang, Kejun Liu, Huixia Yang, Jingmei Ma
Summary: The study investigated the benefits and cost-effectiveness of NIPT as primary or contingent strategies for the high-risk population of trisomy 21 (T21), concluding that combined strategies involving NIPT reduced unnecessary diagnostic tests.
FRONTIERS IN PUBLIC HEALTH
(2022)
Article
Biotechnology & Applied Microbiology
Lei Gao, Jian Zhang, Xiaoju Ran, Xue Jia, Yiyi Xing, Tianyi Dai, Wei Song, Ze Wu, Wei Sun, Dan Shan
Summary: The study identified over 50 differentially expressed proteins in the urine of Trisomy 21 patients, most of which were associated with embryonic development. TIMP2 and LAMP2 were selected as potential urinary protein biomarkers for Trisomy 21. The combination of TIMP2 and LAMP2 showed promise in differentiating Trisomy 21 fetuses from healthy controls with a sensitivity of 74%, a specificity of 82%, and an AUC value of 0.82.
OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY
(2021)
Article
Obstetrics & Gynecology
Elena E. Baranova, Olesya Sagaydak, Alexandra M. Galaktionova, Ekaterina S. Kuznetsova, Madina T. Kaplanova, Maria Makarova, Maxim S. Belenikin, Anton S. Olenev, Ekaterina N. Songolova
Summary: The study assessed the efficiency of using NIPT as a second-line first trimester screening test in Moscow. Results showed high sensitivity and specificity of NIPT for common trisomies and sex chromosome aneuploidies, with an overall false positive rate of 0.3%.
BMC PREGNANCY AND CHILDBIRTH
(2022)
Article
Computer Science, Information Systems
Sarah K. Savage, Jonathan LoTempio, Erica D. Smith, E. Hallie Andrew, Gloria Mas, Amanda H. Kahn-Kirby, Emmanuele Delot, Andrea J. Cohen, Georgia Pitsava, Robert Nussbaum, Vincent A. Fusaro, Seth Berger, Eric Vilain
Summary: We implemented a chatbot consent tool to shift the time burden from study staff in support of a national genomics research study. We compared data from prospective participants who used the tool or had traditional consent conversations with study staff.
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
(2023)
Article
Oncology
Soula Danopoulos, Soumyaroop Bhattacharya, Gail Deutsch, Lina R. Nih, Chris Slaunwhite, Thomas J. Mariani, Denise Al Alam
Summary: This study identifies prenatal lung abnormalities in individuals with Down syndrome (DS), characterized by histopathological abnormalities, reduced cell proliferation, and dysregulated gene expression. These findings contribute to a better understanding of the pathogenesis of lung disease in DS patients.
JOURNAL OF PATHOLOGY
(2021)
Article
Cell Biology
Kourtney Sloan, Jared Thomas, Matthew Blackwell, Deanna Voisard, Eva Lana-Elola, Sheona Watson-Scales, Daniel L. Roper, Joseph M. Wallace, Elizabeth M. C. Fisher, Victor L. J. Tybulewicz, Randall J. Roper
Summary: This study investigates the effects of triplicated genes on mouse skeletal phenotypes and finds that they can both improve and worsen bone deficits.
DISEASE MODELS & MECHANISMS
(2023)
Article
Obstetrics & Gynecology
Pe'er Dar, Bo Jacobsson, Cora MacPherson, Melissa Egbert, Fergal Malone, Ronald J. Wapner, Ashley S. Roman, Asma Khalil, Revital Faro, Rajeevi Madankumar, Lance Edwards, Sina Haeri, Robert Silver, Nidhi Vohra, Jon Hyett, Garfield Clunie, Zachary Demko, Kimberly Martin, Matthew Rabinowitz, Karen Flood, Ylva Carlsson, Georgios Doulaveris, Ciara Malone, Maria Hallingstrom, Susan Klugman, Rebecca Clifton, Charlly Kao, Hakon Hakonarson, Mary E. Norton
Summary: This study measured and compared the performance of cell-free DNA screening for trisomies 21, 18, and 13 between women at a low and high risk for aneuploidy. The results showed that in women at a low risk for aneuploidy, cell-free DNA screening has high sensitivity and specificity. Patients who receive a no-call result are at an increased risk of aneuploidy and require additional investigation.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2022)
Article
Medicine, Research & Experimental
Kei Hayata, Sakurako Mishima, Akiko Ohira, Kazumasa Tani, Jota Maki, Eriko Eto, Chikako Ogawa, Hisashi Masuyama
Summary: NIPT is non-definitive testing for estimating chromosomal abnormalities, but rare cases may require advanced genetic consideration. It's important to note that mosaic trisomy can lead to lower Z-Scores in NIPT-positive cases, while an indeterminate result may indicate microdeletion syndrome. Genetic counseling now requires expertise in ethics, communication, and unexpected outcomes from NIPT testing.
ACTA MEDICA OKAYAMA
(2021)
Article
Biochemistry & Molecular Biology
So-Yun Yang, Kyung Min Kang, Sook-Young Kim, Seo Young Lim, Hee Yeon Jang, Kirim Hong, Dong Hyun Cha, Sung Han Shim, Je-Gun Joung
Summary: This study aims to improve the accuracy of non-invasive prenatal testing (NIPT) by combining multiple methods, which offers a promising approach for predicting chromosomal abnormalities.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biology
Stephanie Springer, Eva Karner, Christof Worda, Maria Magdalena Grabner, Elisabeth Seidl-Mlczoch, Franco Laccone, Juergen Neesen, Anke Scharrer, Barbara Ulm
Summary: This retrospective cohort study evaluated pregnancies complicated by fetal congenital heart disease (CHD) and trisomies 13, 18, and 21. The study found a high rate of pregnancy termination among affected families, but relatively higher livebirth and survival rates among infants with trisomy 21.
Article
Obstetrics & Gynecology
Ellen Hollands Steffensen, Lars Henning Pedersen, Stina Lou, Ida Vogel
Summary: We investigated the effects of a national prenatal screening program on the phenotype of children with Down syndrome in Denmark. The screening program had a limited impact on the syndrome phenotype, with a decrease in the prevalence of non-severe congenital heart disease being the only notable change. Implementation of the screening program was associated with higher odds of neonatal intensive care unit admission and an increased risk of hearing impairment.
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
(2023)
Article
Nursing
Claire Stanley, Amanda Baillargeon, Amanda Selk
JOGNN-JOURNAL OF OBSTETRIC GYNECOLOGIC AND NEONATAL NURSING
(2019)
Review
Dermatology
Khalad Maliyar, Asfandyar Mufti, Maleeha Syed, Amanda Selk, Maha Dutil, Paul E. Bunce, Afsaneh Alavi
JOURNAL OF CUTANEOUS MEDICINE AND SURGERY
(2019)
Review
Immunology
Lan Xu, Amanda Selk, Suzanne M. Garland, Fabrizio Bogliatto, Maria Kyrgiou, Steven Weyers, Marc Arbyn
EXPERT REVIEW OF VACCINES
(2019)
Article
Anesthesiology
Isabelle Laksono, John Matelski, David Flamer, Shira Gold, Amanda Selk
Summary: After implementing a quality improvement bundle, opioid prescriptions at discharge following Cesarean delivery significantly decreased at Mount Sinai Hospital in Toronto. This decrease was sustained over the study period, and there were no visits to the postnatal assessment clinic for inadequate pain control.
CANADIAN JOURNAL OF ANESTHESIA-JOURNAL CANADIEN D ANESTHESIE
(2022)
Editorial Material
Medicine, General & Internal
Amanda Selk
NEW ENGLAND JOURNAL OF MEDICINE
(2022)
Review
Obstetrics & Gynecology
Shira Gold, Lauren Clarfield, Jennie Johnstone, Yenge Diambomba, Prakesh S. Shah, Wendy Whittle, Nimrah Abbasi, Cristian Arzola, Rizwana Ashraf, Anne Biringer, David Chitayat, Marie Czikk, Milena Forte, Tracy Franklin, Michelle Jacobson, Johannes Keunen, John Kingdom, Stephen Lapinsky, Joanne MacKenzie, Cynthia Maxwell, Mary Preisman, Greg Ryan, Amanda Selk, Mathew Sermer, Candice Silversides, John Snelgrove, Nancy Watts, Beverly Young, Charmaine De Castro, Rohan D'Souza
Summary: This study aims to examine and summarize global recommendations on maternity and neonatal care during the SARS-CoV2 pandemic, providing guidance for clinicians, administrators, educators, and researchers, and offering viable options based on different stages of the pandemic, prevalence of infection, and resource availability.
BMC PREGNANCY AND CHILDBIRTH
(2022)
Article
Obstetrics & Gynecology
Julia Dmytryshyn, Amanda Selk
Summary: The study evaluated the effectiveness of The Vulva Diaries podcast as a learning tool for vulvovaginal disease education. The results showed that the podcast significantly increased knowledge levels in medical students and residents, and was preferred over other resources. This study highlights the importance of podcasts in women's health education.
JOURNAL OF LOWER GENITAL TRACT DISEASE
(2022)
Article
Obstetrics & Gynecology
Mario Preti, Amanda Selk, Colleen Stockdale, Federica Bevilacqua, Pedro Vieira-Baptista, Fulvio Borella, Niccolo Gallio, Stefano Cosma, Catarina Melo, Leonardo Micheletti, Chiara Benedetto
Summary: The study found that the majority of women have insufficient knowledge about vulvar anatomy and VSE, and lack willingness to seek medical advice for potential abnormalities. Additionally, most women expressed a desire to learn more about VSE and vulvar health through educational videos and social media.
JOURNAL OF LOWER GENITAL TRACT DISEASE
(2021)
Article
Obstetrics & Gynecology
Nicole Green, Tolu Adedipe, Julia Dmytryshyn, Mario Preti, Amanda Selk
JOURNAL OF LOWER GENITAL TRACT DISEASE
(2020)
Article
Obstetrics & Gynecology
Dalia Limor Karol, Nadine Shehata, Amanda Selk
JOURNAL OF OBSTETRICS AND GYNAECOLOGY CANADA
(2020)
Article
Obstetrics & Gynecology
Shira Gold, Ernesto Figueiro-Filho, Swati Agrawal, Amanda Selk
JOURNAL OF OBSTETRICS AND GYNAECOLOGY CANADA
(2020)
Article
Obstetrics & Gynecology
Michal Sheinis, Nicole Green, Pedro Vieira-Baptista, Carmine Carriero, Gayle Fischer, Catherine Leclair, Nina Madnani, Micheline Moyal-Barracco, Amanda Selk
JOURNAL OF LOWER GENITAL TRACT DISEASE
(2020)
Article
Obstetrics & Gynecology
Nicole Green, Michal Sheinis, Amanda Selk
JOURNAL OF LOWER GENITAL TRACT DISEASE
(2020)
Article
Obstetrics & Gynecology
Jacob Bornstein, Mario Preti, James A. Simon, Sawsan As-Sanie, Colleen K. Stockdale, Amy Stein, Sharon J. Parish, Gianluigi Radici, Pedro Vieira-Baptista, Caroline Pukall, Micheline Moyal-Barracco, Andrew Goldstein, Claudia Marchitelli, Jill Allbritton, Fabrizio Bogliatto, Tanja Bohl, Laura Brodzinsky, Christine Conageski, Jose Fonseca Moutinho, Micheline Moyal-Barracco, Chemen Neal, Maria Angelica Selim, Amanda Selk, Colleen Stockdale, Terry Vanderlinde, Pedro Vieira Baptista, Jacob Bornstein, Andrew T. Goldstein, Colleen K. Stockdale, Sophie Bergeron, Caroline Pukall, Denniz Zolnoun, Deborah Coady
JOURNAL OF LOWER GENITAL TRACT DISEASE
(2019)
Article
Obstetrics & Gynecology
Emily Landon, Amanda Selk
JOURNAL OF OBSTETRICS AND GYNAECOLOGY CANADA
(2018)