Cargando…

Experience in prenatal genetic testing and reproductive decision-making for monogenic disorders from a single tertiary care genetics clinic in a low-middle income country

OBJECTIVES: Explore health-care seeking behaviour among couples with pregnancies at-risk of monogenic disorders and compare time duration for obtaining Prenatal Genetic Test (PGT) results based on (i) amniocentesis and Chorionic Villus Sampling (CVS) (ii) in-house testing and out-sourced testing. Re...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hanif, Amna, Akbar, Fizza, Kirmani, Salman, Jaffarali, Amyna, Zainab, Ghulam, Malik, Ayesha, Ansar, Zeeshan, Afroze, Bushra
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10257259/ https://www.ncbi.nlm.nih.gov/pubmed/37301973 http://dx.doi.org/10.1186/s12884-023-05698-z

Ejemplares similares

Prenatal genetic diagnosis of monogenic diseases
por: Prior-de Castro, Carmen, et al.
Publicado: (2023)

Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country
por: Akbar, Fizza, et al.
Publicado: (2022)

The Genetics of Monogenic Frontotemporal Dementia
por: Takada, Leonel T.
Publicado: (2015)

Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report)
por: Qarnain, Zul, et al.
Publicado: (2022)

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes
por: Lin, Liling, et al.
Publicado: (2020)

Preimplantation Genetic Testing for Monogenic Disorders
por: De Rycke, Martine, et al.
Publicado: (2020)

The genetics of monogenic intestinal epithelial disorders
por: Babcock, Stephen J., et al.
Publicado: (2022)

Genetics of Monogenic Diabetes: Present Clinical Challenges
por: Misra, Shivani, et al.
Publicado: (2018)

Genetics of Monogenic Disorders of Calcium and Bone Metabolism
por: Newey, Paul J, et al.
Publicado: (2022)

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy
por: Mazzarotto, Francesco, et al.
Publicado: (2020)

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping
por: Vermeulen, Carlo, et al.
Publicado: (2017)

Assessing Health-Related Quality of Life, Morbidity, and Survival Status for Individuals With Down Syndrome in Pakistan (DS-Pak): Protocol for a Web-Based Collaborative Registry
por: Siddiqui, Ayat, et al.
Publicado: (2021)

Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing
por: Toft, Christian Liebst Frisk, et al.
Publicado: (2021)

Clinical Considerations of Preimplantation Genetic Diagnosis for Monogenic Diseases
por: Hu, Xiaokun, et al.
Publicado: (2015)

The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders
por: Moghaddas, Fiona, et al.
Publicado: (2018)

The role of common genetic variation in presumed monogenic epilepsies
por: Campbell, Ciarán, et al.
Publicado: (2022)

Monogenic diabetes in New Zealand - An audit based revision of the monogenic diabetes genetic testing pathway in New Zealand
por: Harrington, Francesca, et al.
Publicado: (2023)

Ethical issues in managing Lysosomal storage disorders in children in low and middle income countries
por: Afroze, Bushra, et al.
Publicado: (2017)

Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease
por: Oliver, Peter L., et al.
Publicado: (2007)

Update on Genetic Basis of Brugada Syndrome: Monogenic, Polygenic or Oligogenic?
por: Campuzano, Oscar, et al.
Publicado: (2020)

Monogenic Parkinson’s Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing
por: Jia, Fangzhi, et al.
Publicado: (2022)

Genetic Mechanisms of Migraine: Insights from Monogenic Migraine Mutations
por: Gosalia, Helin, et al.
Publicado: (2023)

Evolution and Utility of Preimplantation Genetic Testing for Monogenic Disorders in Assisted Reproduction - A Narrative Review
por: Parikh, Firuza R., et al.
Publicado: (2021)

Impact of COVID-19 pandemic on paediatric services at a referral centre in Pakistan: lessons from a low-income and middle-income country setting
por: Kirmani, Salman, et al.
Publicado: (2021)

Monogenic Autoinflammatory Syndromes: State of the Art on Genetic, Clinical, and Therapeutic Issues
por: Caso, Francesco, et al.
Publicado: (2013)

Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting
por: Bao, Minghui, et al.
Publicado: (2020)

Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases
por: Gaggiano, Carla, et al.
Publicado: (2019)

Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease
por: Cogal, Andrea G., et al.
Publicado: (2021)

Editorial: Monogenic diabetes: from genetics and cell biology to clinical practice
por: Ding, Li, et al.
Publicado: (2022)

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice
por: Deltas, Constantinos, et al.
Publicado: (2023)

Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson’s disease and monogenic dystonia: a multidisciplinary team perspective
por: Rački, Valentino, et al.
Publicado: (2023)

Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends
por: Rabinowitz, Tom, et al.
Publicado: (2020)

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
por: Ellard, S., et al.
Publicado: (2013)

Preimplantation genetic testing for monogenic diseases: a Brazilian IVF centre experience
por: Zanetti, Bianca Ferrarini, et al.
Publicado: (2019)

SAT-279 Can Preimplantation Genetic Diagnosis Be Used for Monogenic Endocrine Diseases?
por: Yeager, Stephanie, et al.
Publicado: (2019)

Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders
por: Balikov, Daniel A., et al.
Publicado: (2021)

Comprehensive genetic screening reveals wide spectrum of genetic variants in monogenic forms of diabetes among Pakistani population
por: Rafique, Ibrar, et al.
Publicado: (2021)

Monogenic Causes in the Type 1 Diabetes Genetics Consortium Cohort: Low Genetic Risk for Autoimmunity in Case Selection
por: Marchand, Luc, et al.
Publicado: (2021)

Usefulness of copy number variant detection following monogenic disease exclusion in prenatal diagnosis
por: Shi, Panlai, et al.
Publicado: (2021)

Single-cell whole-genome sequencing, haplotype analysis in prenatal diagnosis of monogenic diseases
por: Chang, Liang, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_sov3scaj2kcb3ockb3t0bu1s3f