Last Posted: Jan-06-2017 0PM
Prenatal Testingcollapsed collapsed
Last Posted: Jan 06, 2017
- Non-invasive Prenatal Testing and the Unveiling of an Impaired Translation Process
B Murdoch et al, J Ob Gyn Canada, January 2017 - Clinical experience from Thailand: noninvasive prenatal testing as screening tests for trisomies 21, 18 and 13 in 4736 pregnancies.
Manotaya S et al. Prenatal diagnosis 2016 Mar 36(3) 224-31 - Noninvasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85 000 cases.
Taneja Patricia A et al. Prenatal diagnosis 2016 Mar 36(3) 237-43 - Patient preferences for prenatal testing of microdeletion and microduplication syndromes.
Calonico Elise et al. Prenatal diagnosis 2016 Mar 36(3) 244-51 - Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases.
Hui Winnie W I et al. Clinical chemistry 2016 Dec - Patient Perception of Negative Noninvasive Prenatal Testing Results.
Wittman A Theresa et al. AJP reports 2016 Oct 6(4) e391-e406 - Clinical utility of array comparative genomic hybridisation in prenatal setting.
Lovrecic Luca et al. BMC medical genetics 2016 Nov 17(1) 81 - Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners.
Watanabe Motoko et al. Journal of genetic counseling 2016 Nov - Non-invasive pre-natal test could be accurate as early as three weeks into pregnancy
J Harris, PHG Foundation, November 15, 2016 - Couple's Narratives of Communion and Isolation Following Abnormal Prenatal Microarray Testing Results.
Werner-Lin Allison et al. Qualitative health research 2016 Dec 26(14) 1975-1987 - Prenatal Genetic Testing of Pap Smears: Papoose?
R Lewis, PLOS Blogs, November 3, 2016 - Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies.
Stokowski Renee et al. Prenatal diagnosis 2015 Dec 35(12) 1243-6 - "This lifetime commitment": Public conceptions of disability and noninvasive prenatal genetic screening.
Steinbach Rosemary J et al. American journal of medical genetics. Part A 2016 Feb 170A(2) 363-74 - Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part I - Clinical Impact.
Oepkes Dick et al. Prenatal diagnosis 2016 Oct - Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part II - Women's Perspectives.
van Schendel Rachel V et al. Prenatal diagnosis 2016 Oct - Informed decision-making about prenatal cfDNA screening: An assessment of written materials.
Michie Marsha et al. Ethics, medicine, and public health 2(3) 362-371
Most Recent Scientific Publications from Weekly Horizon Scans
From Genomics & Health Impact Scan Database
This database includes published scientific literature on evidence-based translation of genomic discoveries into improved health care and disease prevention that have a potential impact on population health.
- Clinical experience from Thailand: noninvasive prenatal testing as screening tests for trisomies 21, 18 and 13 in 4736 pregnancies.
Manotaya S et al. Prenatal diagnosis 2016 Mar 36(3) 224-31 - Noninvasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85 000 cases.
Taneja Patricia A et al. Prenatal diagnosis 2016 Mar 36(3) 237-43 - Patient preferences for prenatal testing of microdeletion and microduplication syndromes.
Calonico Elise et al. Prenatal diagnosis 2016 Mar 36(3) 244-51 - Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases.
Hui Winnie W I et al. Clinical chemistry 2016 Dec - Patient Perception of Negative Noninvasive Prenatal Testing Results.
Wittman A Theresa et al. AJP reports 2016 Oct 6(4) e391-e406
From Implementation Database
This database focuses on state and national activities that integrate genomics into public health programs and clinical practice
- Genetic Program Manual for Local Health Departments (August, 2008) (Iowa)[PDF 2.45 MB]
[Disease: Multiple Diseases; Type: Tools|Program; State: Illinois]
From Guideline Database
This database contains updated guidelines, policies and recommendations on genomic research and practice, as provided by professional organizations, federal advisory groups, expert panels and policy groups.
- Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.
Published 2015 (European Society of Human Genetics (ESHG) - Public and Professional Policy Committee) (American Society of Human Genetics (ASHG) - Social Issues Committee) - Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
Published 2015 (European Society of Human Genetics (ESHG)) (American Society of Human Genetics (ASHG)) - EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.
Published 2015 (European Molecular Genetics Quality Network) - NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy.
Published 2013 (National Society of Genetic Counselors) - Position Statement from the Italian College of Fetal Maternal Medicine: Non-invasive prenatal testing (NIPT) by maternal plasma DNA sequencing.
Published 2013 (Italian College of Fetal Maternal Medicine)
From HuGE Literature Finder Database
This database contains published literature on genetic associations and other human genome epidemiology
- Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases.
Journal of human genetics 2016 Jul .
Sundaramurthy Srilekha, Swaminathan Meenakshi, Sen Parveen, Arokiasamy Tharigopala, Deshpande Swati, John Neetha, Gadkari Rupali A, Mannan Ashraf U, Soumittra Nagasa - Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas.
The Journal of molecular diagnostics : JMD 2015 Nov .
Brennan Marie-Luise, Schrijver Ir - Common mutation causes cystinosis in the majority of black South African patients.
Pediatric nephrology (Berlin, Germany) 2015 Apr 30 (4): 595-601.
Owen E Patricia, Nandhlal Jenisha, Leisegang Felicity, Van der Watt George, Nourse Peter, Gajjar Pri - Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes.
American journal of obstetrics and gynecology 2015 Mar 212 (3): 332.e1-9.
Wapner Ronald J, Babiarz Joshua E, Levy Brynn, Stosic Melissa, Zimmermann Bernhard, Sigurjonsson Styrmir, Wayham Nicholas, Ryan Allison, Banjevic Milena, Lacroute Phil, Hu Jing, Hall Megan P, Demko Zachary, Siddiqui Asim, Rabinowitz Matthew, Gross Susan J, Hill Matthew, Benn Pet - The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing.
Case reports in obstetrics and gynecology 2015 2015 813104.
Rapacchia Giuseppina, Lapucci Cristina, Pittalis Maria Carla, Youssef Aly, Farina Anton
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