Research Topics
| Caroline Mackie OgilvieSummaryAffiliation: King's College London Country: UK Publications
| Collaborators
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Detail Information
Publications
The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testingCaroline Mackie Ogilvie
Genetics Centre, Guy's and St Thomas Hospital Trust, London, UK
BJOG 112:1369-75. 2005..However, it should be noted that this figure may be higher (up to 0.12%; 1 in 833) if there were fetal abnormalities in some of the pregnancies in the uncertain prognosis group for which outcome information was not available...- Prevalence of Angelman syndrome amongst referrals with epilepsy and developmental delayAngela F Davies
Department of Cytogenetics, Guy's Hospital, London, UK
Am J Med Genet A 143:2189-91. 2007 - MLPA for confirmation of array CGH results and determination of inheritanceAlison Hills
Cytogenetics Department, GSTS Pathology, London SE1 9RT, UK
Mol Cytogenet 3:19. 2010..Here we describe an MLPA-based strategy for the follow-up of abnormal aCGH results... - Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalanceJoo Wook Ahn
Cytogenetics Department, Guy s and St Thomas NHS Foundation Trust, London SE1 9RT, UK
Mol Cytogenet 3:9. 2010..The purpose of this study was to demonstrate the feasibility of and strategies for, the use of array CGH in place of karyotyping for genome imbalance, and to report on the results of the implementation of this approach... - A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case reportCaroline Mackie Ogilvie
Cytogenetics Department, Guy s and St Thomas NHS Foundation Trust, London, UK
Mol Cytogenet 2:9. 2009..Proximal 22q is rich in low copy repeats (LCRs) which mediate non-allelic homologous recombination and give rise to deletions and duplications of varying size depending on which LCRs are involved... - Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centreJoo Wook Ahn
Cytogenetics Department, Guy s and St Thomas NHS Foundation Trust, London, UK
BMC Med Genet 8:9. 2007..Commercial MLPA kits (MRC-Holland) are available for detecting imbalance at the subtelomere regions of chromosomes; each kit consists of one probe for each subtelomere... - Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR)Caroline Mackie Ogilvie
Cytogenetics Department, 5th Floor, Guy s Tower, St Thomas Street, London SE1 9RT, UK
J Histochem Cytochem 53:285-8. 2005..The sex chromosome test was targeted at pregnancies (272) with specific abnormalities suggestive of Turner syndrome; 13.2% showed 45,X, confirmed by follow-up analysis... - Preimplantation genetic diagnosis--an overviewCaroline Mackie Ogilvie
Cytogenetics Department, 5th Floor, Guy s Tower, St Thomas St, London SE1 9RT, UK
J Histochem Cytochem 53:255-60. 2005..More recent application of PGD to areas such as HLA typing and social sex selection have stoked public controversy and concern, while provoking interesting ethical debates and keeping PGD firmly in the public eye... - Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysisCelia Donaghue
Cytogenetics Department, Genetics Centre, Guy s and St Thomas Hospital Trust, London, UK
Prenat Diagn 25:65-72. 2005.... - Class II neocentromeres: a putative common neocentromere site in band 4q21.2Pamela C Warburton
Cytogenetics Department, Genetics Centre, 5th Floor Guy s Tower, London SE1 9RT, UK
Eur J Hum Genet 11:749-53. 2003..There has been one previous report of neocentromere formation in band 4q21; the observation presented here might refine a putative common neocentromeric site to sub-band 4q21.2... - Maternal cell contamination of prenatal samples assessed by QF-PCR genotypingTaita Stojilkovic-Mikic
Cytogenetics Department, Guy's and St. Thomas' Hospital NHS Foundation Trust, London, UK
Prenat Diagn 25:79-83. 2005.... - Preimplantation genetic diagnosis for a carrier of a Y;autosome translocation resulting in a healthy male offspringCaroline Mackie Ogilvie
Assisted Conception Unit, Clinical Genetics and Cytogenetics Department, Centre for Preimplantation Genetic Diagnosis, Guy s and St Thomas Hospital NHS Foundation Trust, London, United Kingdom
Fertil Steril 94:1529.e11-4. 2010..To demonstrate the feasibility of establishing a successful pregnancy for a carrier of a balanced Y;autosome translocation... - Meiotic outcomes in reciprocal translocation carriers ascertained in 3-day human embryosCaroline Mackie Ogilvie
Guy s and St Thomas Centre for Preimplantation Genetic Diagnosis, Cytogenetics Department, Guy s, King s and St Thomas School of Medicine, London and Guy s and St Thomas Hospital NHS Trust, London, UK
Eur J Hum Genet 10:801-6. 2002..5 and 4.5%. Overall, 2.8% of embryos were mosaic and 2.3% of embryos showed chaotic constitutions for the chromosomes tested. The pregnancy success rate for these 25 cycles was 38.8% per embryo transfer and also 38.8% per couple... - Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI-derived fetus with multiple abnormalitiesMary J Seller
Department of Medical and Molecular Genetics, King s College London School of Medicine, Guy s Hospital, London, UK
Am J Med Genet A 140:1102-7. 2006.... - Development and targeted application of a rapid QF-PCR test for sex chromosome imbalanceCelia Donaghue
Cytogenetics Department, Genetics Centre, Guy s and St Thomas Hospital Trust, 5th Floor Guy s Tower, St Thomas Street, London SE1 9RT, UK
Prenat Diagn 23:201-10. 2003..A QF-PCR test has been developed to diagnose sex chromosome imbalances in prenatal samples and has been applied to a diagnostic service... - Determination of the genetic status of cleavage-stage human embryos by microsatellite marker analysis following multiple displacement amplificationPamela J Renwick
1 Guy s and St Thomas Centre for PGD, Guy s and St Thomas NHS Foundation Trust, London, UK
Prenat Diagn 27:206-15. 2007..To analyse genotype information from cleavage-stage human embryos and assess the chromosomal status and feasibility of performing aneuploidy screening by microsatellite analysis... - Strategies and outcomes of the first 100 cycles of preimplantation genetic diagnosis at the Guy's and St. Thomas' CenterSusan Pickering
Center for Preimplantation Genetic Diagnosis, Guy s and St Thomas NHS Trust, Guy s Hospital, London Bridge, London, United Kingdom
Fertil Steril 79:81-90. 2003..To establish strategies for the implementation of a successful preimplantation genetic diagnosis (PGD) service... - QF-PCR as a stand-alone test for prenatal samples: the first 2 years' experience in the London regionAlison Hills
Cytogenetics Department, GSTS Pathology, Guy s and St Thomas NHS Foundation Trust, London, UK
Prenat Diagn 30:509-17. 2010..To analyse the results of the first 2 years of a QF-PCR stand-alone testing strategy for the prenatal diagnosis of aneuploidy in the London region and to determine the advantages and disadvantages of this policy... - Multiplex ligation-dependent probe amplification using a completely synthetic probe setRowena F Stern
Department of Medical and Molecular Genetics, Guy s, King s and St Thomas School of Medicine, London, UK
Biotechniques 37:399-405. 2004..We conclude that the use of synthetic probes for MLPA is a rapid, robust, and efficient alternative for research (and potentially diagnostic) deletion and duplication screening of multiple genomic loci... - Strategies for the rapid prenatal diagnosis of chromosome aneuploidyKathy Mann
Cytogenetics Department, Guy s and St Thomas Hospital Trust, London, UK
Eur J Hum Genet 12:907-15. 2004..Maternal cell contamination and mosaicism were also detected. Our data recommend a QF-PCR approach as the current method of choice for rapid aneuploidy testing... - Investigation of chromosomal imbalance in human embryos using comparative genomic hybridizationJane L Trussler
Department of Women s Health, GKT School of Medicine, 10th Floor North Wing, St Thomas Hospital, London SE1 7EH, UK
Reprod Biomed Online 8:701-11. 2004..The results indicate that chromosomally abnormal embryos were more likely to have arisen as a result of cultural artefact or inadequate cell cycle surveillance, rather than meiotic error... - A trisomy 2 fetus with severe neural tube defects and other abnormalitiesMary J Seller
Department of Medical and Molecular Genetics, The Guy s, King s and St Thomas Hospitals School of Medicine, King s College London, UK
Clin Dysmorphol 13:25-7. 2004.... - Prenatal diagnosis for chromosome abnormalities: past, present and futureCaroline Mackie Ogilvie
Cytogenetics Department, Guy s and St Thomas Hospital Trust, London, UK
Pathol Biol (Paris) 51:156-60. 2003..The future of prenatal diagnosis must lie in the non-invasive diagnosis of Down's syndrome using fetal cells from maternal circulation... - Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysisJoo Wook Ahn
Cytogenetics Department, Guy s and St Thomas NHS Foundation Trust, London, UK
Mol Cytogenet 1:2. 2008..321 patients were tested with both kits, 75 with the subtelomere kit alone, and 7 with the microdeletion kit alone... - Fluorescence in situ hybridization on single cells. (Sex determination and chromosome rearrangements)Paul N Scriven
Research and Development, Guy s and St Thomas NHS Foundation Trust Centre for PGD, London, UK
Methods Mol Med 132:19-30. 2007.... - Characterization of terminal chromosome anomalies using multisubtelomere FISHAngela F Davies
Cytogenetics Department, Genetics Centre, Guy's and St. Thomas' NHS Trust, London, United Kingdom
Am J Med Genet A 120:483-9. 2003.... - FISH for pre-implantation genetic diagnosisPaul N Scriven
Cytogenetics Department, Guy s Hospital, London, UK
Methods Mol Biol 659:269-82. 2010.... - Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cellsPamela Renwick
Guy s and St Thomas Centre for Preimplantation Genetic Diagnosis and Genetics Centre, Guy s and St Thomas NHS Foundation Trust, London, UK
Reprod Biomed Online 20:470-6. 2010..These data demonstrate that PGH provides a robust, efficient and successful alternative to single-cell PCR for monogenic diseases... - Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial casesMelita Irving
Department of Clinical Genetics, 7th Floor, New Guy s House, Guy s Hospital, St Thomas Street, London SE1 9RT, United Kingdom
Am J Med Genet A 123:153-63. 2003..Other genes in the region that might have a role in causing the phenotype include the genes coding for fibroblast growth factor receptor type 2 (FGFR2) and C-terminal binding protein 2 (CTBP2)... - Preimplantation genetic diagnosisPeter Braude
Centre for Preimplantation Genetic Diagnosis, Thomas Guy House, Guy's Hospital, London SE1 9RT, UK
Nat Rev Genet 3:941-53. 2002..PGD has provided unique insights into aspects of reproductive genetics and early human development, but has also raised important new ethical issues about assisted human reproduction... - Laboratory diagnosisCaroline Mackie Ogilvie
Genetics Centre, Guy's and St Thomas' Hospital, SE1 9RT, London, UK
Lancet 361:160. 2003 - Proof of principle and first cases using preimplantation genetic haplotyping--a paradigm shift for embryo diagnosisPamela J Renwick
Genetics Centre, Guy s and St Thomas NHS Foundation Trust, London SE1 9RT, UK
Reprod Biomed Online 13:110-9. 2006.... - Complete discrepancy between QF-PCR analysis of uncultured villi and karyotyping of cultured cells in the prenatal diagnosis of trisomy 21 in three CVSJonathan J Waters
Cytogenetics Laboratory, NE Thames Regional Genetics Service, Gt Ormond St Hospital NHS Trust, London, UK
Prenat Diagn 27:332-9. 2007..To investigate complete discrepancies in the prenatal diagnosis of trisomy 21 between QF-PCR analysis of uncultured villi and karyotyping of cultured cells in three chorion villus samples... - Preimplantation genetic diagnosis for monogenic diseases: overview and emerging issuesPamela Renwick
Guy s and St Thomas Hospital Foundation Trust, Genetics Center, London SE1 9RT, UK
Expert Rev Mol Diagn 7:33-43. 2007..While PGD has benefited many couples aiming to have healthy children, ethical concerns remain over inappropriate use of this technology... - Analysis of a chromosomally mosaic placenta to assess the cell populations in dissociated chorionic villi: implications for QF-PCR aneuploidy testingKathy Mann
Prenat Diagn 27:287-9. 2007 - A new neocentromere locus on chromosome 13 resulting in mosaic tetrasomy for distal 13q and an asymmetric phenotypeJulian Barwell
Genetics Centre, Guy s and St Thomas Hospital Trust, London, United Kingdom
Am J Med Genet A 130:295-8. 2004..They are reviewed and compared with the current case. The importance of scanning metaphases for abnormalities in individuals presenting with asymmetry is emphasized... - Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatinLionel R Willatt
Cytogenetics Laboratory, Medical Genetics Department, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK
Eur J Hum Genet 15:45-52. 2007..3 Mb). The BACs identified in this study should in future make it possible to differentiate between clinically significant deletions or duplications and euchromatic variants with no established phenotypic consequences... - Preimplantation genetic diagnosisCaroline Mackie Ogilvie
Lancet 362:250. 2003