Search Results - "Henneman, Lidewij"

Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide by Cornel, Martina C., Rigter, Tessel, Jansen, Marleen E., Henneman, Lidewij

“…Screening for rare diseases first began more than 50 years ago with neonatal bloodspot screening (NBS) for phenylketonuria, and carrier screening for Tay-Sachs…”
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Responsible implementation of expanded carrier screening by Henneman, Lidewij, Borry, Pascal, Chokoshvili, Davit, Cornel, Martina C, van El, Carla G, Forzano, Francesca, Hall, Alison, Howard, Heidi C, Janssens, Sandra, Kayserili, Hülya, Lakeman, Phillis, Lucassen, Anneke, Metcalfe, Sylvia A, Vidmar, Lovro, de Wert, Guido, Dondorp, Wybo J, Peterlin, Borut

“…This document of the European Society of Human Genetics contains recommendations regarding responsible implementation of expanded carrier screening. Carrier…”
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In memoriam Prof. Dr. Leo P. ten Kate by Cornel, Martina C., Henneman, Lidewij

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Couples' experiences with expanded carrier screening: evaluation of a university hospital screening offer by van Dijke, Ivy, Lakeman, Phillis, Sabiri, Naoual, Rusticus, Hanna, Ottenheim, Cecile P E, Mathijssen, Inge B, Cornel, Martina C, Henneman, Lidewij

“…Preconception carrier screening offers couples the possibility to receive information about the risk of having a child with a recessive disorder. Since 2016,…”
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Implementing non-invasive prenatal testing for aneuploidy in a national healthcare system: global challenges and national solutions by van Schendel, Rachèl V, van El, Carla G, Pajkrt, Eva, Henneman, Lidewij, Cornel, Martina C

“…Since the introduction of non-invasive prenatal testing (NIPT) in 2011, mainly by commercial companies, a growing demand for NIPT from the public and…”
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Who ever heard of 16p11.2 deletion syndrome? Parents' perspectives on a susceptibility copy number variation syndrome by Kleinendorst, Lotte, van den Heuvel, Lieke M, Henneman, Lidewij, van Haelst, Mieke M

“…Chromosomal microarray analysis is an important diagnostic tool to identify copy number variations (CNV). Some of the CNVs affect susceptibility regions, which…”
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Genetic diagnosis for rare diseases in the Dutch Caribbean: a qualitative study on the experiences and associated needs of parents by Verberne, Eline A, van den Heuvel, Lieke M, Ponson-Wever, Maria, de Vroomen, Maartje, Manshande, Meindert E, Faries, Sonja, Ecury-Goossen, Ginette M, Henneman, Lidewij, van Haelst, Mieke M

“…Research on the perspectives of patients and parents regarding genetic testing and its implications has been performed mostly in Europe, Canada, the United…”
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How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples by van Dijke, Ivy, Lakeman, Phillis, Mathijssen, Inge B, Goddijn, Mariëtte, Cornel, Martina C, Henneman, Lidewij

“…Couples at increased risk of having offspring with a specific genetic disorder who want to avoid having an affected child have several reproductive options…”
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Dynamics of reproductive genetic technologies: Perspectives of professional stakeholders by van Dijke, Ivy, van El, Carla G, Lakeman, Phillis, Goddijn, Mariëtte, Rigter, Tessel, Cornel, Martina C, Henneman, Lidewij

“…Reproductive and genetic medicine are evolving rapidly, and new technologies are already impacting current practices. This includes technologies that can…”
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Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening by Nijmeijer, Stephanie C M, Conijn, Thirsa, Lakeman, Phillis, Henneman, Lidewij, Wijburg, Frits A, Haverman, Lotte

“…Preconception expanded carrier screening (ECS) aims to detect carrier couples of autosomal recessive (AR) disorders before pregnancy in order to increase…”
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Public attitudes towards genetic testing revisited: comparing opinions between 2002 and 2010 by Henneman, Lidewij, Vermeulen, Eric, van El, Carla G, Claassen, Liesbeth, Timmermans, Danielle R M, Cornel, Martina C

“…Ten years after the Human Genome Project, medicine is still waiting for many of the promised benefits, and experts have tempered their high expectations…”
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Nationwide implementation of the non-invasive prenatal test: Evaluation of a blended learning program for counselors by Martin, Linda, Gitsels-van der Wal, Janneke T, Bax, Caroline J, Pieters, Mijntje J, Reijerink-Verheij, Jacqueline C I Y, Galjaard, Robert-Jan, Henneman, Lidewij

“…This study assesses the results of a mandatory blended learning-program for counselors (e.g. midwives, sonographers, obstetricians) guiding national…”
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Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program by van der Meij, Karuna R M, van de Pol, Qiu Ying F, Bekker, Mireille N, Martin, Linda, Gitsels-van der Wal, Janneke, van Vliet-Lachotzki, Elsbeth H, Weiss, Janneke M, Galjaard, Robert-Jan H, Sistermans, Erik A, Macville, Merryn V E, Henneman, Lidewij

“…Pregnant women's perspectives should be included in the dialogue surrounding the expanding offers of non-invasive prenatal testing (NIPT), especially now that…”
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A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child by van den Heuvel, Lieke M, Kater-Kuipers, Adriana, van Dijk, Tessa, Crefcoeur, Loek L, Visser, Gepke, Langeveld, Mirjam, Henneman, Lidewij

“…Primary carnitine deficiency is an inborn error of metabolism, which can lead to life-threating complications early in life. Low carnitine levels can be…”
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Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review by Müller, Annelieke R, Boot, Erik, Notermans, Stijn B, Schuengel, Carlo, Henneman, Lidewij, Cornel, Martina C, van Haelst, Mieke M, Alders, Mariëlle, van Karnebeek, Clara D M, Bijl, Bas, Wijburg, Frits A, van Eeghen, Agnies M

“…Advances in understanding the etiology of intellectual disability (ID) has led to insights in potential (targeted) treatments and personalized care…”
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Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals by Hill, Melissa, Johnson, Jo-Ann, Langlois, Sylvie, Lee, Hyun, Winsor, Stephanie, Dineley, Brigid, Horniachek, Marisa, Lalatta, Faustina, Ronzoni, Luisa, Barrett, Angela N, Advani, Henna V, Choolani, Mahesh, Rabinowitz, Ron, Pajkrt, Eva, van Schendel, Rachèl V, Henneman, Lidewij, Rommers, Wieke, Bilardo, Caterina M, Rendeiro, Paula, Ribeiro, Maria João, Rocha, José, Bay Lund, Ida Charlotte, Petersen, Olav B, Becher, Naja, Vogel, Ida, Stefánsdottir, Vigdis, Ingvarsdottir, Sigrun, Gottfredsdottir, Helga, Morris, Stephen, Chitty, Lyn S

“…Non-invasive prenatal testing is increasingly available worldwide and stakeholder viewpoints are essential to guide implementation. Here we compare the…”
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Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population by Conijn, Thirsa, van Dijke, Ivy, Haverman, Lotte, Lakeman, Phillis, Wijburg, Frits A, Henneman, Lidewij

“…Preconception expanded carrier screening (ECS) enables prospective parents to assess their risk of having a child with an autosomal recessive disorder…”
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Using family history information to promote healthy lifestyles and prevent diseases; a discussion of the evidence by Claassen, Liesbeth, Henneman, Lidewij, Janssens, A Cecile J W, Wijdenes-Pijl, Miranda, Qureshi, Nadeem, Walter, Fiona M, Yoon, Paula W, Timmermans, Danielle R M

“…A family history, reflecting genetic susceptibility as well as shared environmental and behavioral factors, is an important risk factor for common chronic…”
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Parents’ views on accepting, declining, and expanding newborn bloodspot screening by van der Pal, Sylvia M, Wins, Sophie, Klapwijk, Jasmijn E, van Dijk, Tessa, Kater-Kuipers, Adriana, van der Ploeg, Catharina P. B, Jans, Suze M. P. J, Kemp, Stephan, Verschoof-Puite, Rendelien K, van den Bosch, Lion J. M, Henneman, Lidewij

“…Introduction The goal of newborn bloodspot screening (NBS) is the early detection of treatable disorders in newborns to offer early intervention. Worldwide,…”
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Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands by Blom, Maartje, Bredius, Robbert G. M., Jansen, Marleen E., Weijman, Gert, Kemper, Evelien A., Vermont, Clementien L., Hollink, Iris H. I. M., Dik, Willem A., van Montfrans, Joris M., van Gijn, Mariëlle E., Henriet, Stefanie S., van Aerde, Koen J., Koole, Wouter, Lankester, Arjan C., Dekkers, Eugènie H. B. M., Schielen, Peter C. J. I., de Vries, Martine C., Henneman, Lidewij, van der Burg, Mirjam

“…Purpose While neonatal bloodspot screening (NBS) for severe combined immunodeficiency (SCID) has been introduced more than a decade ago, implementation in NBS…”
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