C
Caroline Mackie Ogilvie
Researcher at King's College London
Publications - 42
Citations - 1607
Caroline Mackie Ogilvie is an academic researcher from King's College London. The author has contributed to research in topics: Prenatal diagnosis & Preimplantation genetic diagnosis. The author has an hindex of 19, co-authored 42 publications receiving 1515 citations. Previous affiliations of Caroline Mackie Ogilvie include Guy's and St Thomas' NHS Foundation Trust & St Thomas' Hospital.
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Journal ArticleDOI
Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis
Kathy Mann,Susan P Fox,Stephen J. Abbs,Shu Ching Yau,Paul N. Scriven,Zoe Docherty,Caroline Mackie Ogilvie +6 more
TL;DR: In this article, the authors report on the development and implementation of this technique as the first such routine service within a diagnostic department of the UK National Health Service (NHS), which has led to the rapid diagnosis of abnormalities and early reassurance for women with normal results.
Journal ArticleDOI
Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder
Andrea K. Vaags,Anath C. Lionel,Anath C. Lionel,Daisuke Sato,McKinsey L. Goodenberger,Quinn Stein,Sarah Curran,Caroline Mackie Ogilvie,Joo Wook Ahn,Irene Drmic,Lili Senman,Christina Chrysler,Ann Thompson,Carolyn Russell,Aparna Prasad,Susan Walker,Dalila Pinto,Christian R. Marshall,Dimitri J. Stavropoulos,Lonnie Zwaigenbaum,Bridget A. Fernandez,Eric Fombonne,Patrick Bolton,David A. Collier,Jennelle C. Hodge,Wendy Roberts,Peter Szatmari,Stephen W. Scherer,Stephen W. Scherer +28 more
TL;DR: This report presents clinical characterization of four index cases who have been diagnosed with ASD and who possess rare inherited or de novo microdeletions at 14q24.3-31.1, a region that overlaps exons of the alpha and/or beta isoforms of NRXN3.
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Strategies for the rapid prenatal diagnosis of chromosome aneuploidy.
TL;DR: In the past 3 years, 7720 prenatal samples for trisomies 13, 18 and 21 were tested using a quantitative fluorescence-PCR (QF-PCr) approach, and the data recommend a QF- PCR approach as the current method of choice for rapid aneuploidy testing.
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Meiotic outcomes in reciprocal translocation carriers ascertained in 3-day human embryos.
TL;DR: Embryos tested for preimplantation genetic diagnosis for 18 couples carrying 15 different reciprocal translocations showed signal patterns consistent with alternate segregation, and for most translocations, alternate segregation was apparently the most frequent mode.
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Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis.
TL;DR: The prevalence of primary trisomy mosaicism for chromosomes 13, 18 or 21 in a cohort of prenatal samples is estimated and the detection of this mosaicism is compared and contrast using both QF‐PCR and karyotype analysis.