DrDagmarTapon

Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ERet al., 2019, Prenatal Exome Sequencing Analysis in Fetal Structural Anomalies Detected by Ultrasonography (PAGE): A Cohort Study, OBSTETRICAL & GYNECOLOGICAL SURVEY, Vol: 74, Pages: 394-396, ISSN: 0029-7828

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Faravelli F, Chandler N, Best S, Hayward J, Mansour S, Kivuva E, Tapon D, Male A, DeVile C, Chitty Let al., 2019, Rapid Prenatal Diagnosis through Targeted Exome Sequencing: A Cohort study, 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Publisher: NATURE PUBLISHING GROUP, Pages: 824-824, ISSN: 1018-4813

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Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER, Bateman M, Campbell C, Campbell J, Carey G, Cohen K, Collingwood E, Constantinou P, Delmege C, Ellis R, Evans J, Everett T, Pinto CF, Forrester N, Fowler E, Gardiner C, Hamilton S, Healey K, Hudson R, Marton T, Mehta S, Park S-M, Prigmore E, Quarrell O, Ramsden S, Rowland J, Steer J, Taylor EJ, Wilson Eet al., 2019, Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study, LANCET, Vol: 393, Pages: 747-757, ISSN: 0140-6736

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• Citations: 300

Chandler N, Best S, Hayward J, Faravelli F, Mansour S, Kivuva E, Tapon D, Male A, DeVile C, Chitty LSet al., 2018, Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management, GENETICS IN MEDICINE, Vol: 20, Pages: 1430-1437, ISSN: 1098-3600

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• Citations: 77

Lawin O'Brien A, Dall'Asta A, Tapon D, Mann K, Ahn JW, Ellis R, Ogilvie C, Lees Cet al., 2016, Gestation related karyotype, QF-PCR and CGH-array failure rates in diagnostic amniocentesis, Prenatal Diagnosis, Vol: 36, Pages: 708-713, ISSN: 1097-0223

BACKGROUND: Few data exist describing laboratory related failure rates in prenatal diagnosis. The aim of this study is to assess the laboratory associated failure rate for karyotype, QF-PCR and CGH-array following amniocentesis in relation to gestation. METHODS: Retrospective database study of amniocenteses performed 2004-2014 comparing laboratory failure rate for karyotype, QF-PCR and CGH-array between 16 + 0 and 40 + 0 weeks' gestation. RESULTS: A total of 10 484 amniotic fluid test results were collected in three databases. Karyotype failed in 41/1797 (2.3%) tests; failure rate was significantly greater with advancing gestation reaching 43% at 36-40 weeks. QF-PCR failed in 132/5715 tests (2.3%) and was significantly greater with advancing gestation reaching 7% at 36-40 weeks. For CGH-array, 10/298 tests (3.4%) failed analysis. In one case, no result was obtainable by any technique. CONCLUSIONS: These data provide gestation specific laboratory failure rates for amniocentesis enabling informed decisions about the timing and laboratory technique most applicable to the clinical situation. Before 20 weeks, karyotype is least likely to fail of the three techniques. However, in the late third trimester, QF-PCR and, in particular, karyotyping are more likely to fail than CGH-array. Although there is some overlap between the three different tests, they may be preferentially offered in different clinical scenarios. © 2016 John Wiley & Sons, Ltd.

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Tapon D, 2010, Prenatal testing for Down syndrome: comparison of screening practices in the UK and USA., J Genet Couns, Vol: 19, Pages: 112-130

Prenatal testing for Down Syndrome is a topic covered in every genetic counselor's training as it constitutes the main workload of genetic counselors in prenatal settings. Most Western countries nowadays offer some type of testing for Down Syndrome. However, practices vary according to country with regards to what tests are offered, insurance coverage and the legal situation concerning the option of terminating an affected pregnancy. In view of the growing interest in international genetic counseling issues, this article aims to compare prenatal testing practices in two English-speaking countries: the United Kingdom and the United States of America. A case will be presented to highlight some of the differences in practice. The topic underlines important implications for genetic counseling practice, such as patients' understanding of testing practices, risk perception, counseling provision and impact of prenatal testing results.

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