Results 21 to 30 of about 2,713,146 (243)

Siblings of Disabled Peoples' Attitudes Toward Prenatal Genetic Testing and Disability: A Mixed Methods Approach

Disability Studies Quarterly, 2016
We used the phenomenon of prenatal genetic testing to learn more about how siblings of disabled people understand prenatal genetic testing and social meanings of disability. By interweaving data on siblings' conscious and unconscious disability attitudes
Carli Friedman, Aleksa L Owen
doaj   +1 more source

Prenatal Nondiscrimination Laws: Disability, Social Conservatism, and the Political Economy of Genetic Screening

Disability Studies Quarterly, 2020
This article analyzes recent state laws and legislative debates in the United States concerning the prohibition of abortions performed because of a diagnosis of fetal disability.
Jennifer M. Denbow
doaj   +1 more source

Fragmentomic cfDNA Patterns in Noninvasive Prenatal Testing and Beyond

Journal of Biomedicine and Translational Research, 2021
The release of fetoplacental cell-free DNA (cfDNA) into the maternal bloodstream opened up new avenues towards noninvasive prenatal testing (NIPT) for aneuploidies, hereditary DNA mutations and other pregnancy-related developmental disorders ...
Kavish Kohabir, Rob Wolthuis, Erik A. Sistermans   +2 more
doaj   +1 more source

Tell me y: anticipation of sex discrepancies in cell-free DNA testing due to maternal genetic abnormalities: a case report

Frontiers in Genetics
Sex discordance between cell-free DNA (cfDNA) testing and ultrasound examination is rare but can cause significant patient discomfort and uncertainty.
Nuria Balaguer, Emilia Mateu-Brull, Jose Antonio Martínez-Conejero, Ana Cervero, Roser Navarro, Jorge Jiménez-Almazán, Miguel Milán   +6 more
doaj   +1 more source

The impact of the emergence of COVID‐19 on women's prenatal genetic testing decisions

, 2021
Objective We conducted a study to examine the impact of COVID on patients' access and utilization of prenatal genetic screens and diagnostic tests at the onset of the COVID‐19 pandemic in the United States.
Ranzini, Angela, Angela Ranzini, Uma Perni, Coleridge, Marissa, Christina Collart, Richard Frankel, Susannah S. Rose, Craighead, Caitlin, Pemi, Uma, Madelyn Pierce, Ruth M. Farrell, Pierce, Madelyn, Tucker Edmonds, Brownsyne, Edward K. Chien, Chien, Edward K., Frankel, Richard, Marissa Coleridge, Caitlin Craighead, Collart, Christina, Brownsyne Tucker Edmonds, Farrell, Ruth M.   +20 more
core   +1 more source

Clinical and Cost Impact Analysis of a Novel Prognostic Test for Early Detection of Preterm Birth

American Journal of Perinatology Reports, 2016
Objective The objective of this study was to evaluate the potential impact to the U.S. health care system by adopting a novel test that identifies women at risk for spontaneous preterm birth.
Aaron B. Caughey, John A. F. Zupancic, James M. Greenberg, Susan S. Garfield, Stephen F. Thung, Jay D. Iams   +5 more
doaj   +1 more source

Prenatal diagnosis: A connotation on genetic counseling being indispensable

Indian Journal of Public Health, 2020
Prenatal testing and diagnosis are gaining a strong foothold in a progressively developing country like India, and an estimated boom in the market of noninvasive prenatal testing is predicted by the year 2024.
Anuradha Ramesh, Venkatachalam Deepa Parvathi   +1 more
doaj   +1 more source

Perinatal outcomes of prenatal cases testing positive for trisomy 9 by noninvasive prenatal testing

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objectives: To evaluate the performance of non-invasive prenatal testing (NIPT) for the detection of fetal trisomy 9 in prenatal screening and to investigate the prenatal appearances and genetic counseling of trisomy 9 fetuses. Materials and methods: The
Hui Li, Li Lu, Yanyi Yao, Tangxinzi Gao, Yufei Jiang, Chengcheng Zhang, Nian Liu, Jieping Song, Wei Wang, Lijun Liu   +9 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study.

PLoS ONE, 2023
ObjectiveTo describe indications, test types, and results of prenatal diagnostic genetic amniocentesis among Ethiopian pregnant women.MethodsThis study was a descriptive study on prenatal diagnostic genetic testing among Ethiopian pregnant women with ...
Abraham Fessehaye Sium, Tariku Shimels, Abdulfetah Abdulkadir Abdosh, Tesfaye Diress, Tigist Tsegaye, Tizibt Yifrashewa, Zewdu Terefework, Wondimu Gudu   +7 more
doaj   +1 more source