Search Results - "Chitty, Lyn S"

Promises, pitfalls and practicalities of prenatal whole exome sequencing by Best, Sunayna, Wou, Karen, Vora, Neeta, Van der Veyver, Ignatia B., Wapner, Ronald, Chitty, Lyn S.

“…Prenatal genetic diagnosis provides information for pregnancy and perinatal decision‐making and management. In several small series, prenatal whole exome…”
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Women's Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study by Lewis, Celine, Hill, Melissa, Chitty, Lyn S

“…Non-invasive prenatal testing (NIPT) for aneuploidy is currently only available in the UK through the private sector outside of the research arena. As part of…”
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Model-based analysis of costs and outcomes of non-invasive prenatal testing for Down's syndrome using cell free fetal DNA in the UK National Health Service by Morris, Stephen, Karlsen, Saffron, Chung, Nancy, Hill, Melissa, Chitty, Lyn S

“…Non-invasive prenatal testing (NIPT) for Down's syndrome (DS) using cell free fetal DNA in maternal blood has the potential to dramatically alter the way…”
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Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities by Lo, Kitty K., Karampetsou, Evangelia, Boustred, Christopher, McKay, Fiona, Mason, Sarah, Hill, Melissa, Plagnol, Vincent, Chitty, Lyn S.

“…The use of massively parallel sequencing of maternal cfDNA for non-invasive prenatal testing (NIPT) of aneuploidy is widely available. Recently, the scope of…”
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Update on the use of exome sequencing in the diagnosis of fetal abnormalities by Ferretti, Lauren, Mellis, Rhiannon, Chitty, Lyn S.

“…Unexpected fetal abnormalities detected through ultrasound scanning in pregnancy may have a monogenic aetiology but are difficult to diagnose. Next generation…”
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Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies by Hui, Lisa, Ellis, Katie, Mayen, Dora, Pertile, Mark D., Reimers, Rebecca, Sun, Luming, Vermeesch, Joris, Vora, Neeta L., Chitty, Lyn S.

“…Key points What is already known about this topic? In 2015, the International Society for Prenatal Diagnosis (ISPD) published its first position statement on…”
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Post-mortem MRI versus conventional autopsy in fetuses and children: a prospective validation study by Thayyil, Sudhin, Dr, Sebire, Neil J, Prof, Chitty, Lyn S, Prof, Wade, Angie, PhD, Chong, WK, MD, Olsen, Oystein, FRCR, Gunny, Roxana S, FRCR, Offiah, Amaka C, PhD, Owens, Catherine M, FRCR, Saunders, Dawn E, FRCR, Scott, Rosemary J, FRCPath, Jones, Rod, MSc, Norman, Wendy, DCR, Addison, Shea, BSc, Bainbridge, Alan, PhD, Cady, Ernest B, FInstP, Vita, Enrico De, PhD, Robertson, Nicola J, PhD, Taylor, Andrew M, Prof

“…Summary Background Post-mortem MRI is a potential diagnostic alternative to conventional autopsy, but few large prospective studies have compared its accuracy…”
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Parents' motivations, concerns and understanding of genome sequencing: a qualitative interview study by Lewis, Celine, Sanderson, Saskia, Hill, Melissa, Patch, Chris, Searle, Beverly, Hunter, Amy, Chitty, Lyn S

“…The 100,000 Genomes Project is a hybrid clinical and research project in which patients and parents are offered genome sequencing for cancer and rare and…”
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Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidy by Lewis, Celine, Hill, Melissa, Skirton, Heather, Chitty, Lyn S

“…Non-invasive prenatal testing (NIPT) using cell-free DNA for aneuploidy is a highly accurate screening test; however, concerns exist around the potential for…”
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Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons by Harding, Brian N., Moccia, Amanda, Drunat, Séverine, Soukarieh, Omar, Tubeuf, Hélène, Chitty, Lyn S., Verloes, Alain, Gressens, Pierre, El Ghouzzi, Vincent, Joriot, Sylvie, Di Cunto, Ferdinando, Martins, Alexandra, Passemard, Sandrine, Bielas, Stephanie L.

“…Primary microcephaly is a neurodevelopmental disorder that is caused by a reduction in brain size as a result of defects in the proliferation of neural…”
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Non‐invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches by Shaw, Joe, Scotchman, Elizabeth, Paternoster, Ben, Ramos, Maureen, Nesbitt, Sarah, Sheppard, Sophie, Snowsill, Tristan, Chitty, Lyn S., Chandler, Natalie

“…Objectives To develop a flexible droplet digital PCR (ddPCR) workflow to perform non‐invasive prenatal diagnosis via relative mutation dosage (RMD) for…”
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Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach by Chitty, Lyn S., Mason, Sarah, Barrett, Angela N., McKay, Fiona, Lench, Nicholas, Daley, Rebecca, Jenkins, Lucy A.

“…Objective Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of…”
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Digital PCR Analysis of Maternal Plasma for Noninvasive Detection of Sickle Cell Anemia by BARRETT, Angela N, MCDONNELL, Thomas C. R, ALLEN CHAN, K. C, CHITTY, Lyn S

“…Cell-free fetal DNA (cffDNA) constitutes approximately 10% of the cell-free DNA in maternal plasma and is a suitable source of fetal genetic material for…”
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"We might get a lot more families who will agree": Muslim and Jewish perspectives on less invasive perinatal and paediatric autopsy by Lewis, Celine, Latif, Zahira, Hill, Melissa, Riddington, Megan, Lakhanpaul, Monica, Arthurs, Owen J, Hutchinson, John C, Chitty, Lyn S, Sebire, Neil J

“…Perinatal and paediatric autopsy rates are at historically low levels with declining uptake due to dislike of the invasiveness of the procedure, and religious…”
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A qualitative study looking at informed choice in the context of non-invasive prenatal testing for aneuploidy by Lewis, Celine, Hill, Melissa, Chitty, Lyn S.

“…Objective To explore women's attitudes towards non‐invasive prenatal testing (NIPT) and determine factors influencing their decisions around uptake of NIPT…”
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The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made by Lench, Nicholas, Barrett, Angela, Fielding, Sarah, McKay, Fiona, Hill, Melissa, Jenkins, Lucy, White, Helen, Chitty, Lyn S.

“…ABSTRACT Recently, we have witnessed the rapid translation into clinical practice of non‐invasive prenatal testing for the common aneuploidies, most notably…”
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Implementing prenatal diagnosis based on cell-free fetal DNA: accurate identification of factors affecting fetal DNA yield by Barrett, Angela N, Zimmermann, Bernhard G, Wang, Darrell, Holloway, Andrew, Chitty, Lyn S

“…Cell-free fetal DNA is a source of fetal genetic material that can be used for non-invasive prenatal diagnosis. Usually constituting less than 10% of the total…”
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Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA by Chitty, Lyn S, Lo, Y M Dennis

“…The identification of cell-free fetal DNA (cffDNA) in maternal plasma in 1997 heralded the most significant change in obstetric care for decades, with the…”
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Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways by Verhoef, Talitha I., Hill, Melissa, Drury, Suzanne, Mason, Sarah, Jenkins, Lucy, Morris, Stephen, Chitty, Lyn S.

“…Objective Evaluate the costs of offering non‐invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform…”
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Noninvasive prenatal testing for aneuploidy–ready for prime time? by Chitty, Lyn S., MRCOG, Hill, Melissa, PhD, White, Helen, PhD, Wright, David, PhD, Morris, Stephen, PhD

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