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1. Growth trajectories of the human fetal brain in healthy and complicated pregnancies and associations with neurodevelopmental outcome in the early life course

Author: Welling, M.S., Husen, S.C., Go, A.T.J.I. (Attie), Groenenberg, I.A.L. (Irene), Willemsen, S.P. (Sten), Bijma, H.H. (Hilmar), Steegers-Theunissen, R.P.M. (Régine), Welling, M.S., Husen, S.C., Go, A.T.J.I. (Attie), Groenenberg, I.A.L. (Irene), Willemsen, S.P. (Sten), Bijma, H.H. (Hilmar), and Steegers-Theunissen, R.P.M. (Régine)
Abstract: Background There is a need for non-invasive prenatal markers of the brain to assess fetuses at risk for poor postnatal neurodevelopmental outcome. Periconceptional maternal conditions and pregnancy complications impact prenatal brain development. Aims To investigate associations between growth trajectories of fetal brain structures and neurodevelopmental outcome in children in the early life course. Study design Periconceptional prospective observational cohort. Subjects Singleton pregnancies were included in the Rotterdam periconception cohort. Two- and three-dimensional ultrasound scans at 22, 26 and 32 weeks gestational age were analysed. Outcome measures Head circumference (HC), cerebellum, corpus callosum (CC), Sylvian fissure, insula and parieto-occipital fissure (POF) were measured. Neurodevelopment was evaluated using the Age-and-Stages-questionnaire-3 (ASQ-3) and the Child-Behaviour-Checklist (CBCL) at 2 years of age. Linear mixed models, used to estimate the prenatal brain growth trajectories, and linear regression models, used to evaluate the associations between prenatal brain structures and neurodevelopmental outcomes, were applied in the total study population, and in subgroups: fetal growth restriction (FGR), preterm birth (PTB), fetal congenital heart d
Published: 2020
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2. Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast

Author: Van Opstal, A.R.M. (Diane), Eggenhuizen, G.M. (Geerke M.), Joosten, A-M.S (Marieke), Diderich, K.E.M. (Karin), Govaerts, L.C. (Lutgarde), Galjaard, R-J.H. (Robert-Jan), Go, A.T.J.I. (Attie), Knapen, M.F.C.M. (Maarten), Boter, M. (Marjan), Cheung, W.Y. (Wai Y.), van Koetsveld, N. (Nicole), van Veen, S. (Stefanie), de Valk, W.G. (Walter G.), Jehee, F.S. (Fernanda), Vries, F.A.T. (Femke) de, Hollink, I.H.I.M. (Iris), Hoefsloot, E.H. (Lies), Srebniak, M.I. (Malgorzata), Van Opstal, A.R.M. (Diane), Eggenhuizen, G.M. (Geerke M.), Joosten, A-M.S (Marieke), Diderich, K.E.M. (Karin), Govaerts, L.C. (Lutgarde), Galjaard, R-J.H. (Robert-Jan), Go, A.T.J.I. (Attie), Knapen, M.F.C.M. (Maarten), Boter, M. (Marjan), Cheung, W.Y. (Wai Y.), van Koetsveld, N. (Nicole), van Veen, S. (Stefanie), de Valk, W.G. (Walter G.), Jehee, F.S. (Fernanda), Vries, F.A.T. (Femke) de, Hollink, I.H.I.M. (Iris), Hoefsloot, E.H. (Lies), and Srebniak, M.I. (Malgorzata)
Published: 2020
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3. The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

Author: Diderich, K.E.M. (Karin), Romijn, K. (Kathleen), Joosten, A-M.S (Marieke), Govaerts, L.C. (Lutgarde), Polak, M.G. (Marike), Brüggenwirth, H.T. (Hennie), Wilke, M. (Martina), Slegtenhorst, M.A. (Marjon) van, Bever, Y. (Yolande) van, Brooks, A.S. (Alice), Mancini, G.M.S. (Grazia), Laar, I.M.B.H. (Ingrid) van de, Kromosoeto, J.N.R. (Joan), Knapen, M.F.C.M. (Maarten), Go, A.T.J.I. (Attie), Van Opstal, A.R.M. (Diane), Hoefsloot, E.H. (Lies), Galjaard, R-J.H. (Robert-Jan), Srebniak, M.I. (Malgorzata), Diderich, K.E.M. (Karin), Romijn, K. (Kathleen), Joosten, A-M.S (Marieke), Govaerts, L.C. (Lutgarde), Polak, M.G. (Marike), Brüggenwirth, H.T. (Hennie), Wilke, M. (Martina), Slegtenhorst, M.A. (Marjon) van, Bever, Y. (Yolande) van, Brooks, A.S. (Alice), Mancini, G.M.S. (Grazia), Laar, I.M.B.H. (Ingrid) van de, Kromosoeto, J.N.R. (Joan), Knapen, M.F.C.M. (Maarten), Go, A.T.J.I. (Attie), Van Opstal, A.R.M. (Diane), Hoefsloot, E.H. (Lies), Galjaard, R-J.H. (Robert-Jan), and Srebniak, M.I. (Malgorzata)
Abstract: Introduction: The aim of this retrospective cohort study was to determine the potential diagnostic yield of prenatal whole exome sequencing in fetuses with structural anomalies on expert ultrasound scans and normal chromosomal microarray results. Material and methods: In the period 2013-2016, 391 pregnant women with fetal ultrasound anomalies who received normal chromosomal microarray results, were referred for additional genetic counseling and opted for additional molecular testing pre- and/or postnatally. Most of the couples received only a targeted molecular test and in 159 cases (40.7%) whole exome sequencing (broad gene panels or open exome) was performed. The results of these molecular tests were evaluated retrospectively, regardless of the time of the genetic diagnosis (prenatal or postnatal). Results: In 76 of 391 fetuses (19.4%, 95% CI 15.8%-23.6%) molecular testing provided a genetic diagnosis with identification of (likely) pathogenic variants. In the majority of cases (91.1%, 73/76) the (likely) pathogenic variant would be detected by prenatal whole exome sequencing analysis. Conclusions: Our retrospective cohort study shows that prenatal whole exome sequencing, if offered by a clinical geneticist, in addition to chromosomal microarray, would notably increa
Published: 2020
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4. First trimester anomaly scan using virtual reality (VR FETUS study): study protocol for a randomized clinical trial

Author: Pietersma, C.S. (C. S.), Mulders, A.G.M.G.J. (Annemarie), Moolenaar, L.M. (Lobke M.), Hunink, M.G.M. (Myriam), Koning, A.H.J. (Anton), Willemsen, S.P. (Sten), Go, A.T.J.I. (Attie), Steegers, E.A.P. (Eric), Rousian, M. (Melek), Pietersma, C.S. (C. S.), Mulders, A.G.M.G.J. (Annemarie), Moolenaar, L.M. (Lobke M.), Hunink, M.G.M. (Myriam), Koning, A.H.J. (Anton), Willemsen, S.P. (Sten), Go, A.T.J.I. (Attie), Steegers, E.A.P. (Eric), and Rousian, M. (Melek)
Abstract: BACKGROUND: In recent years it has become clear that fetal anomalies can already be detected at the end of the first trimester of pregnancy by two-dimensional (2D) ultrasound. This is why increasingly in developed countries the first trimester anomaly scan is being offered as part of standard care. We have developed a Virtual Reality (VR) approach to improve the diagnostic abilities of 2D ultrasound. Three-dimensional (3D) ultrasound datasets are used in VR assessment, enabling real depth perception and unique interaction. The aim of this study is to investigate whether first trimester 3D VR ultrasound is of additional value in terms of diagnostic accuracy for the detection of fetal anomalies. Health-related quality of life, cost-effectiveness and also the perspective of both patient and ultrasonographer on the 3D VR modality will be studied. METHODS: Women in the first trimester of a high risk pregnancy for a fetus with a congenital anomaly are eligible for inclusion. This is a randomized controlled trial with two intervention arms. The control group receives 'care as usual': a second trimester 2D advanced ultrasound examination. The intervention group will undergo an additional first trimester 2D and 3D VR ultrasound examination. Following each examination participants will fill in validated questionnaires evaluating their quality of life and healthcare related expenses. Participants' and ultrasonographers' perspectives on the 3D VR ultrasound will be surveyed. The primary outcome
Published: 2020
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5. Implementing non-invasive prenatal testing (NIPT) in the Netherlands: An interview study exploring opinions about and experiences with societal pressure, reimbursement, and an expanding scope

Author: Bakkeren, I.M. (Iris M.), Kater-Kuipers, A. (Adriana), Bunnik, E.M. (Eline), Go, A.T.J.I. (Attie), Tibben, A. (Arend), Beaufort, I.D. (Inez) de, Galjaard, R-J.H. (Robert-Jan), Riedijk, S.R. (Samantha), Bakkeren, I.M. (Iris M.), Kater-Kuipers, A. (Adriana), Bunnik, E.M. (Eline), Go, A.T.J.I. (Attie), Tibben, A. (Arend), Beaufort, I.D. (Inez) de, Galjaard, R-J.H. (Robert-Jan), and Riedijk, S.R. (Samantha)
Abstract: The noninvasive prenatal test (NIPT) as the first trimester prenatal screening (FTS) for trisomies 21, 18, and 13 is offered to all pregnant women in the Netherlands. NIPT using genome sequencing allows for an expansion of the scope of FTS and the introduction of NIPT gives rise to ethical and societal concerns about deliberated decision-making, pressure to engage in screening, and possible lack of equal access due to the financial contribution (€175) to NIPT. We explored the opinions and experiences of pregnant women, who were offered FTS, about these concerns, and the possibility of a broadened scope. Nineteen pregnant women representing a diversity of backgrounds were interviewed using a semi-structured interview guide. Eight women did not opt for prenatal screening while 11 did (NIPT = 4, combined test = 7). Women experienced a free choice to accept or decline prenatal screening, despite sometimes receiving advice from others. Prior to pretest counseling, some women had already deliberated about what an abnormal test result would mean to them. Others accepted or declined FTS without deliberation. The current Dutch policy of requiring a co-payment was acceptable to some, who believed that it funct
Published: 2019
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6. Social and medical need for whole genome high resolution NIPT

Author: Srebniak, M.I. (Malgorzata), Knapen, M.F.C.M. (Maarten), Govaerts, L.C. (Lutgarde), Polak, M.G. (Marike), Joosten, M., Diderich, K.E.M. (Karin), van Zutven, L.J.C.M, Prinsen, A.K.E., Riedijk, S.R., Go, A.T.J.I. (Attie), Galjaard, R-J.H. (Robert-Jan), Hoefsloot, L.H., Van Opstal, A.R.M. (Diane), Srebniak, M.I. (Malgorzata), Knapen, M.F.C.M. (Maarten), Govaerts, L.C. (Lutgarde), Polak, M.G. (Marike), Joosten, M., Diderich, K.E.M. (Karin), van Zutven, L.J.C.M, Prinsen, A.K.E., Riedijk, S.R., Go, A.T.J.I. (Attie), Galjaard, R-J.H. (Robert-Jan), Hoefsloot, L.H., and Van Opstal, A.R.M. (Diane)
Abstract: Background: Two technological innovations in the last decade significantly influenced the diagnostic yield of prenatal cytogenetic testing: genomic microarray allowing high resolution analysis and noninvasive prenatal testing (NIPT) focusing on aneuploidy. To anticipate future trends in prenatal screening and diagnosis, we evaluated the number of invasive tests in our center and the number of aberrant cases diagnosed in the last decade. Methods: We retrospectively analyzed fetal chromosomal aberrations diagnosed in 2009–2018 in 8,608 pregnancies without ultrasound anomalies. Results: The introduction of NIPT as the first-tier test led to a substantial decrease in the number of invasive tests and a substantially increased diagnostic yield of aneuploidies in the first trimester. However, we have also noted a decreased detection of submicroscopic aberrations, since the number of invasive tests substantially decreased. We have observed that pregnant women were interested in broader scope of prenatal screening and diagnosis than detection of common trisomies. Conclusion: Since the frequency of syndromic disorders caused by microdeletions/ microduplications is substantial and current routine NIPT and ultrasound investigations are not able to detect them, we suggest that a noninvasive test with resolution comparable to microarrays should be developed, which will also meet patient's needs.
Published: 2019
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7. Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?

Author: Bardi, F. (Francesca), Bosschieter, P. (Pien), Verheij, J.B. (Joke), Go, A.T.J.I. (Attie), Haak, M.C. (Monique), Bekker, M.N. (Mireille), Sikkel, E. (Esther), Coumans, A. (Audrey), Pajkrt, E. (Eva), Bilardo, C.M. (Caterina Maddalena), Bardi, F. (Francesca), Bosschieter, P. (Pien), Verheij, J.B. (Joke), Go, A.T.J.I. (Attie), Haak, M.C. (Monique), Bekker, M.N. (Mireille), Sikkel, E. (Esther), Coumans, A. (Audrey), Pajkrt, E. (Eva), and Bilardo, C.M. (Caterina Maddalena)
Abstract: Objectives: To give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first-trimester screening and to investigate which of these abnormalities would be missed if cell-free fetal DNA (cfDNA) were used as a first-tier screening test for chromosomal abnormalities. Methods: This is a national study including 1901 pregnancies with NT≥95th percentile referred to seven university hospitals in the Netherlands between 1 January 2010 and 1 January 2016. All cases with unknown pregnancy outcome were excluded. Results of detailed ultrasound examinations, karyotyping, genotyping, pregnancy and neonatal outcomes, investigation by a clinical geneticist and post-mortem investigations were collected. Results: In total, 821 (43%) pregnancies had at least one abnormality. The rate of abnormalities was 21% for fetuses with NT between 95th and 99th percentile and 62% for fetuses with NT≥99th percentile. Prevalence of single-gene disorders, submicroscopic, chromosomal and structural abnormalities was 2%, 2%, 30% and 9%, respectively. Conclusion: Although cfDNA is superior to the combined test, especially for the detection of trisomy 21, 34% of the congenital abnormalities occurring in fetuses with increased NT may remain undetected in the first trimester of pregnancy, unless cfDNA is used in combination with fetal sonographic assessment, including NT measurement.
Published: 2019
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8. Termination of pregnancy for fetal anomalies: Parents' preferences for psychosocial care

Author: Dekkers, F.H.W., Go, A.T.J.I. (Attie), Stapersma, L. (Luuk), Eggink, A.J., Utens, E.M.W.J. (Elisabeth), Dekkers, F.H.W., Go, A.T.J.I. (Attie), Stapersma, L. (Luuk), Eggink, A.J., and Utens, E.M.W.J. (Elisabeth)
Abstract: Objective: To investigate, from the perspective of women and partners, at what stage of a termination of pregnancy (TOP) for fetal anomalies psychosocial care (PSC) is most meaningful, what topics should be discussed, and who should provide PSC. Method: A cross‐sectional retrospective cohort study was conducted with a consecutive series of 76 women and 36 partners, who completed a semi‐structured online questionnaire. Results: Overall, women expressed a greater need for PSC than their partners. Parents expressed a preference for receiving support from a maternal‐fetal medicine specialist to help them understand the severity and consequences of the anomalies found and to counsel them in their decision regarding termination. Parents showed a preference for support from mental healthcare providers to help with their emotional responses. Forty‐one percent of the women visited a psychosocial professional outside of the hospital after the TOP, indicating a clear need for a well‐organised aftercare. Conclusion: Different disciplines should work together in a complementary way during the diagnosis, decision making, TOP, and aftercare stages. Parents' need for PSC should be discussed at the beginning of the process. During aftercare, attention should be paid to grief counselling, acknowledgement of the lost baby's existence, and possible future pregnancies.
Published: 2019
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9. Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype

Author: Van Opstal, A.R.M. (Diane), van Veen, S. (Stefanie), Joosten, A-M.S (Marieke), Diderich, K.E.M. (Karin), Govaerts, L.C. (Lutgarde), Polak, J. (Joke), van Koetsveld, N. (Nicole), Boter, M. (Marjan), Go, A.T.J.I. (Attie), Papatsonis, D.N.M. (Dimitri), Prinsen, K. (Krista), Hoefsloot, E.H. (Lies), Srebniak, M.I. (Malgorzata), Van Opstal, A.R.M. (Diane), van Veen, S. (Stefanie), Joosten, A-M.S (Marieke), Diderich, K.E.M. (Karin), Govaerts, L.C. (Lutgarde), Polak, J. (Joke), van Koetsveld, N. (Nicole), Boter, M. (Marjan), Go, A.T.J.I. (Attie), Papatsonis, D.N.M. (Dimitri), Prinsen, K. (Krista), Hoefsloot, E.H. (Lies), and Srebniak, M.I. (Malgorzata)
Abstract: Objective: Placental cytogenetic studies may reveal the origin of discordant noninvasive prenatal testing (NIPT). We performed placental studies to elucidate discordances between NIPT showing a structural chromosome aberration and the fetus having a different chromosome aberration in three cases. Method: Diagnostic testing with genomic SNP microarray was performed in three cases with NIPT showing a duplication on 4q (case 1), a terminal deletion of 13q (case 2), and a terminal deletion of 15q (case 3). Placental studies involved SNP array analysis of cytotrophoblast and mesenchymal core of chorionic villi of four placental quadrants. Clinical follow-up was performed as well. Results: Amniotic fluid revealed a different structural chromosome aberration than predicted by NIPT: a terminal 2q deletion (case 1), a segmental uniparental isodisomy of 13q (case 2), and a terminal duplication of 15q and of 13q (case 3). Placental studies revealed the aberration detected with NIPT in the cytotrophoblast, whereas the fetal karyotype was confirmed in the placental mesenchymal core. Conclusion: Our study shows that targeted cytogenetic investigations for confirmation of NIPT showing a microscopically visible structural chromosome aberration should be avoided, since another aberration, even a submicroscopic one or one involving another chromosome, may be present in the fetus.
Published: 2019
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10. Three-dimensional ultrasound imaging of fetal brain fissures in the growth restricted fetus

Author: Husen, S.C., Koning, I.V. (Irene), Go, A.T.J.I. (Attie), van Graafeiland, A.W., Willemsen, S.P. (Sten), Groenenberg, I.A.L. (Irene), Steegers-Theunissen, R.P.M. (Régine), Husen, S.C., Koning, I.V. (Irene), Go, A.T.J.I. (Attie), van Graafeiland, A.W., Willemsen, S.P. (Sten), Groenenberg, I.A.L. (Irene), and Steegers-Theunissen, R.P.M. (Régine)
Abstract: Objectives To examine differences in growth trajectories of fetal brain fissures in the growth restricted fetus (FGR) compared to controls. Methods We selected a subgroup of 227 women with a singleton pregnancy from the Rotterdam Periconceptional Cohort. Participants received three-dimensional ultrasound (3D-US) examinations of the fetal brain at 22, 26 and 32 weeks of gestational age (GA). The left and right Sylvian, insula and parieto-occipital fissures (POF) were measured in standardized planes. Linear mixed models with adjustment for potential confounders were applied to estimate differences between the trajectories of brain fissure depth measurements of FGR and controls. Results 22 FGR and 172 controls provided 31 and 504 3D-US respectively for longitudinal brain fissure depth measurements. Success rates for the Sylvian and insula depth measurements were over 80% and for POF over 62% at all GA. In FGR compared to controls, the
Published: 2019
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11. Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

Author: Van Opstal, A.R.M. (Diane), Diderich, K.E.M. (Karin), Joosten, A-M.S (Marieke), Govaerts, L.C. (Lutgarde), Polak, J. (Joke), Boter, M. (Marjan), Saris, J.J. (Jasper J.), Cheung, W.Y. (Wai Yee), van Veen, S. (Stefanie), van de Helm, R. (Robert), Go, A.T.J.I. (Attie), Knapen, M.F.C.M. (Maarten), Papatsonis, D.N.M. (Dimitri), Dijkman, A., Vries, F.A.T. (Femke) de, Galjaard, R-J.H. (Robert-Jan), Hoefsloot, E.H. (Lies), Srebniak, M.I. (Malgorzata), Van Opstal, A.R.M. (Diane), Diderich, K.E.M. (Karin), Joosten, A-M.S (Marieke), Govaerts, L.C. (Lutgarde), Polak, J. (Joke), Boter, M. (Marjan), Saris, J.J. (Jasper J.), Cheung, W.Y. (Wai Yee), van Veen, S. (Stefanie), van de Helm, R. (Robert), Go, A.T.J.I. (Attie), Knapen, M.F.C.M. (Maarten), Papatsonis, D.N.M. (Dimitri), Dijkman, A., Vries, F.A.T. (Femke) de, Galjaard, R-J.H. (Robert-Jan), Hoefsloot, E.H. (Lies), and Srebniak, M.I. (Malgorzata)
Abstract: Objective: Non-invasive prenatal testing (NIPT) detects placental chromosome aberrations. When amniocentesis reveals a normal karyotype, confined placental mosaicism (CPM) may be assumed. In order to confirm this, placental cytogenetic studies were performed. Method: NIPT was conducted in the course of the Dutch TRIDENT study. Placentas of 10 cases with NIPT results indicating an autosomal trisomy and showing a normal (N = 9) or low mosaic karyotype (N = 1) in amniotic fluid (AF) were investigated. The cytotrophoblast as well as the mesenchymal core of two to four placental chorionic villi biopsies were studied with single nucleotide polymorphism (SNP) array. Clinical outcome data were collected. Results: In 10/10 cases, CPM was proven. In 3/10 cases trisomy/uniparental disomy (UPD)/biparental disomy (BPD) mosaicism was discovered. In 2/3 cases, all three cell lines were present in the placenta, whereas BPD was found in AF. In 1/3 cases trisomy 22/UPD22 was present in AF while trisomy 22/BPD22 mosaicism was found in the placenta. Five of 10 pregnancies were affected with pre-eclampsia, low birth weight, preterm delivery, and/or congenital malformations. Conclusion: The presence of trisomy/UPD/BPD mosaicism in 3/10 cases that we investigated proves that trisomic zygote rescue may involve multiple rescue events during early embryogenesis. UPD mosaicism, when present in crucial fetal tissues, may explain the abnormal phenotype in undiagnosed cases.
Published: 2018
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12. Choosing between Higher and Lower Resolution Microarrays

Author: Steen, S.L. (Sanne) van der, Bunnik, E.M. (Eline), Polak, M.G. (Marike), Diderich, K.E.M. (Karin), Verhagen-Visser, J., Govaerts, L.C. (Lutgarde), Joosten, A-M.S (Marieke), Knapen, M.F.C.M. (Maarten), Go, A.T.J.I. (Attie), Van Opstal, A.R.M. (Diane), Srebniak, M.I. (Malgorzata), Galjaard, R-J.H. (Robert-Jan), Tibben, A. (Arend), Riedijk, S.R. (Samantha), Steen, S.L. (Sanne) van der, Bunnik, E.M. (Eline), Polak, M.G. (Marike), Diderich, K.E.M. (Karin), Verhagen-Visser, J., Govaerts, L.C. (Lutgarde), Joosten, A-M.S (Marieke), Knapen, M.F.C.M. (Maarten), Go, A.T.J.I. (Attie), Van Opstal, A.R.M. (Diane), Srebniak, M.I. (Malgorzata), Galjaard, R-J.H. (Robert-Jan), Tibben, A. (Arend), and Riedijk, S.R. (Samantha)
Abstract: Developments in prenatal testing allow the detection of more findings. SNP arrays in prenatal diagnosis (PND) can be analyzed at 0.5 Mb resolution detecting more clinically relevant anomalies, or at 5 Mb resolution. We investigated whether women had sufficient knowledge to make informed choices regarding the scope of their prenatal test that were consistent with their attitude. Pregnant women could choose between testing at 5 or at 0.5 Mb array. Consenting women (N = 69) received pre-test genetic counseling by phone and filled out the Measure of Informed Choice questionnaire designed for this study. Choices based on sufficient knowledge and consistent with attitude were considered informed. Sixty-two percent of the women made an adequately informed choice, based on sufficient knowledge and attitude-consistent with their choice of microarray resolution. Women who made an informed choice, opted for 0.5 Mb array resolution more often. There were no differences between women making adequately informed or less informed choices regarding level of experienced anxiety or doubts. Over time on T0 and T1, anxiety and doubts significantly decreased. While previous studies demonstrated that knowledge is an important component in informed decision-making, this study underlines that a consistent attitude might be equally important for decision-making. We advocate more focus on attitude-consistency and deliberation as compared to only a strong focus on knowledge.
Published: 2018
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13. Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases

Author: Govaerts, L.C. (Lutgarde), Srebniak, M.I. (Malgorzata), Diderich, K.E.M. (Karin), Joosten, A-M.S (Marieke), Riedijk, S.R. (Samantha), Knapen, M.F.C.M. (Maarten), Go, A.T.J.I. (Attie), Papatsonis, D.N.M. (Dimitri), de Graaf, K. (Katja), Toolenaar, T. (Toon), Steen, S.L. (Sanne) van der, Huijbregts, G.C.M. (Gido), Knijnenburg, J. (Jeroen), Vries, F.A.T. (Femke) de, Van Opstal, A.R.M. (Diane), Galjaard, R-J.H. (Robert-Jan), Govaerts, L.C. (Lutgarde), Srebniak, M.I. (Malgorzata), Diderich, K.E.M. (Karin), Joosten, A-M.S (Marieke), Riedijk, S.R. (Samantha), Knapen, M.F.C.M. (Maarten), Go, A.T.J.I. (Attie), Papatsonis, D.N.M. (Dimitri), de Graaf, K. (Katja), Toolenaar, T. (Toon), Steen, S.L. (Sanne) van der, Huijbregts, G.C.M. (Gido), Knijnenburg, J. (Jeroen), Vries, F.A.T. (Femke) de, Van Opstal, A.R.M. (Diane), and Galjaard, R-J.H. (Robert-Jan)
Abstract: __Background:__ Whole genome array testing not only provides an increased diagnostic yield of pathogenic causative findings, but it may also reveal so called susceptibility loci (SL) for neurodevelopmental disorders. The goal of this study was to evaluate the pregnancy outcomes in SL cases and to establish a protocol for pregnancy management, follow-up and additional investigations. __Methods:__ Fifty seven cases were evaluated: 34 with and 23 without ultrasound anomalies at referral. Each pregnant couple received pretest counseling and extensive posttest genetic counseling. __Results:__ After diagnosis of SL, parental testing and an additional ultrasound examination were offered. The severity of the ultrasound anomalies and not the diagnosis of SL was the most important factor contributing to the decision on pregnancy continuation. In the majority of cases with milder or no ultrasound anomalies, the pregnancy was continued and a normal outcome after birth was observed. __Conclusions:__ The diagnosis of a SL did not seem to be a reason for termination of pregnancy. Most patients were able to cope with the uncertainty and were interested in both prenatal and postnatal actionability of SL. Long-term follow-up is crucial to assess the actual risks for neurodevelopmental disorders, especially in families with unremarkable history.
Published: 2017
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14. Enlarged NT (≥3.5 mm) in the first trimester - Not all chromosome aberrations can be detected by NIPT

Author: Srebniak, M.I. (Malgorzata), Wit, M.C. (Merel) de, Diderich, K.E.M. (Karin), Govaerts, L.C. (Lutgarde), Joosten, A-M.S (Marieke), Knapen, M.F.C.M. (Maarten), Bos, M.J. (Marnix), Looye-Bruinsma, G.A.G. (Gerda), Koningen, M. (Mieke), Go, A.T.J.I. (Attie), Galjaard, R-J.H. (Robert-Jan), Van Opstal, A.R.M. (Diane), Srebniak, M.I. (Malgorzata), Wit, M.C. (Merel) de, Diderich, K.E.M. (Karin), Govaerts, L.C. (Lutgarde), Joosten, A-M.S (Marieke), Knapen, M.F.C.M. (Maarten), Bos, M.J. (Marnix), Looye-Bruinsma, G.A.G. (Gerda), Koningen, M. (Mieke), Go, A.T.J.I. (Attie), Galjaard, R-J.H. (Robert-Jan), and Van Opstal, A.R.M. (Diane)
Abstract: __Background:__ Since non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an enlarged NT in the first trimester of pregnancy (tested with SNP microarray) could be detected by NIPT as well. __Method:__ 362 fetuses were referred for cytogenetic testing due to an enlarged NT (≥3.5 mm). Chromosome aberrations were investigated using QF-PCR, karyotyping and whole genome SNP array. __Results:__ After invasive testing a chromosomal abnormality was detected in 137/362 (38 %) fetuses. 100/362 (28 %) cases concerned trisomy 21, 18 or 13, 25/362 (7 %) an aneuploidy of sex chromosomes and 3/362 (0.8 %) triploidy. In 6/362 (1.6 %) a pathogenic structural unbalanced chromosome aberration was seen and in 3/362 (0.8 %) a susceptibility locus for neurodevelopmental disorders was found. We estimated that in 2-10 % of fetuses with enlarged NT a chromosome aberration would be missed by current NIPT approaches. __Conclusion:__ Based on our cohort of fetuses with enlarged NT we may conclude that NIPT, depending on the approach, will miss chromosome aberrations in a significant percentage of pregnancies. Moreover all abnormal NIPT results require confirmatory studies with invasive testing, which will delay definitive diagnosis in ca. 30 % of patients. These figures are important for pretest counseling enabling pregnant women to make informed choices on the prenatal test. Larger cohorts of fetuses with an enlarged NT should be investigated to assess the additional diagnostic value of high resolution array testing for this indication.
Published: 2016
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15. Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: Causative, unexpected and susceptibility CNVs

Author: Srebniak, M.I. (Malgorzata), Diderich, K.E.M. (Karin), Joosten, A-M.S (Marieke), Govaerts, L.C. (Lutgarde), Knijnenburg, J. (Jeroen), Vries, F.A.T. (Femke) de, Boter, M. (Marjan), Lont, D. (Debora), Knapen, M.F.C.M. (Maarten), Wit, M.C. (Merel) de, Go, A.T.J.I. (Attie), Galjaard, R-J.H. (Robert-Jan), Van Opstal, A.R.M. (Diane), Srebniak, M.I. (Malgorzata), Diderich, K.E.M. (Karin), Joosten, A-M.S (Marieke), Govaerts, L.C. (Lutgarde), Knijnenburg, J. (Jeroen), Vries, F.A.T. (Femke) de, Boter, M. (Marjan), Lont, D. (Debora), Knapen, M.F.C.M. (Maarten), Wit, M.C. (Merel) de, Go, A.T.J.I. (Attie), Galjaard, R-J.H. (Robert-Jan), and Van Opstal, A.R.M. (Diane)
Abstract: To evaluate the diagnostic value of single-nucleotide polymorphism (SNP) array testing in 1033 fetuses with ultrasound anomalies we investigated the prevalence and genetic nature of pathogenic findings. We reclassified all pathogenic findings into three categories: causative findings; unexpected diagnoses (UD); and susceptibility loci (SL) for neurodevelopmental disorders. After exclusion of trisomy 13, 18, 21, sex-chromosomal aneuploidy and triploidies, in 76/1033 (7.4%) fetuses a pathogenic chromosome abnormality was detected by genomic SNP array: in 19/1033 cases (1.8%) a microscopically detectable abnormality was found and in 57/1033 (5.5%) fetuses a pathogenic submicroscopic chromosome abnormality was detected. 58% (n=44) of all these pathogenic chromosome abnormalities involved a causative finding, 35% (n=27) a SL for neurodevelopmental disorder, and 6% (n=5) a UD of an early-onset untreatable disease. In 0.3% of parental sa
Published: 2016
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16. Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I—clinical impact

Author: Oepkes, D., Page-Christiaens, G.C.L. (G. C. Lieve), Bax, C.J. (Caroline), Bekker, M.N. (Mireille), Bilardo, C.M. (Caterina Maddalena), Boon, E.M.J. (Elles ), Schuring-Blom, G.H. (Heleen), Coumans, A. (Audrey), Faas, B.H.W. (Brigitte), Galjaard, R-J.H. (Robert-Jan), Go, A.T.J.I. (Attie), Henneman, L. (Lidewij), Macville, M.V.E. (Merryn), Pajkrt, E. (Eva), Suijkerbuijk, R. (Ron), Huijsdens-van Amsterdam, K. (Karin), Van Opstal, A.R.M. (Diane), Verweij, E.J.J. (E. J. Joanne), Weiss, M.M. (Marjan M.), Sistermans, E.A. (Erik), Oepkes, D., Page-Christiaens, G.C.L. (G. C. Lieve), Bax, C.J. (Caroline), Bekker, M.N. (Mireille), Bilardo, C.M. (Caterina Maddalena), Boon, E.M.J. (Elles ), Schuring-Blom, G.H. (Heleen), Coumans, A. (Audrey), Faas, B.H.W. (Brigitte), Galjaard, R-J.H. (Robert-Jan), Go, A.T.J.I. (Attie), Henneman, L. (Lidewij), Macville, M.V.E. (Merryn), Pajkrt, E. (Eva), Suijkerbuijk, R. (Ron), Huijsdens-van Amsterdam, K. (Karin), Van Opstal, A.R.M. (Diane), Verweij, E.J.J. (E. J. Joanne), Weiss, M.M. (Marjan M.), and Sistermans, E.A. (Erik)
Abstract: Objective: To evaluate the clinical impact of nationwide implementation of genome-wide non-invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study). Method: Women with elevated risk based on first trimester combined testing (FCT ≥ 1:200) or medical history, not advanced maternal age alone, were offered NIPT as contingent screening test, performed by Dutch University Medical laboratories. We analyzed uptake, test performance, redraw/failure rate, turn-around time and pregnancy outcome. Results: Between 1 April and 1 September 2014, 1413/23 232 (6%) women received a high-risk FCT result. Of these, 1211 (85.7%) chose NIPT. One hundred seventy-nine women had NIPT based on medical history. In total, 1386/1390 (99.7%) women received a result, 6 (0.4%) after redraw. Mean turn-around time was 14 days. Follow-up was available in 1376 (99.0%) pregnancies. NIPT correctly predicted 37/38 (97.4%) trisomies 21, 18 or 13 (29/30, 4/4 and 4/4 respectively); 5/1376 (0.4%) cases proved to be false positives: trisomies 21 (n = 2), 18 (n = 1) and 13 (n = 2). Estimated reduction in invasive testing was 62%. Conclusion: Introduction of NIPT in the Dutch National healthcare-funded Prenatal Screening Program resulted in high uptake and a vast reduction of invasive testing. Our study supports offering NIPT to pregnant women at increased risk for fetal trisomy. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.
Published: 2016
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17. False negative NIPT results: Risk figures for chromosomes 13,18 and 21 based on chorionic villi results in 5967 cases and literature review

Author: Van Opstal, A.R.M. (Diane), Srebniak, M.I. (Malgorzata), Polak, J. (Joke), Vries, F.A.T. (Femke) de, Govaerts, L.C. (Lutgarde), Joosten, A-M.S (Marieke), Go, A.T.J.I. (Attie), Knapen, M.F.C.M. (Maarten), Berg, C.D.F. (Cardi) van den, Diderich, K.E.M. (Karin), Galjaard, R-J.H. (Robert-Jan), Van Opstal, A.R.M. (Diane), Srebniak, M.I. (Malgorzata), Polak, J. (Joke), Vries, F.A.T. (Femke) de, Govaerts, L.C. (Lutgarde), Joosten, A-M.S (Marieke), Go, A.T.J.I. (Attie), Knapen, M.F.C.M. (Maarten), Berg, C.D.F. (Cardi) van den, Diderich, K.E.M. (Karin), and Galjaard, R-J.H. (Robert-Jan)
Abstract: Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. Since the "fetal" DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological origin. Based on our experience with cytogenetic studies of CV, we tried to estimate this risk. 5967 CV samples of pregnancies at high risk for common aneuplodies were cytogenetically investigated in our centre between January 2000 and December 2011. All cases of fetal trisomy 13,18 and 21 were retrospectively studied for the presence of a normal karyotype or mosaicism < 30% in short-term cultured (STC-) villi. 404 cases of trisomies 13,18 and 21 were found amongst 5967 samples (6,8%). Of these 404 cases, 14 (3,7%) had a normal or low mosaic karyotype in STC-villi and therefore would potentially be missed with NIPT. It involved 2% (5/242) of all trisomy 21 cases and 7.3% (9/123) of all trisomy 18 cases. In 1:426 (14/5967) NIPT samples of patients at high risk for common aneuploidies, a trisomy 18 or 21 will potentially be missed due to the biological phenomenon of absence of the chromosome aberration in the cytotrophoblast.
Published: 2016
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18. The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Author: Winkler, T.W. (Thomas W.), Justice, A.E. (Anne), Graff, M.J. (Maud J.L.), Barata, L. (Llilda), Feitosa, M.F. (Mary Furlan), Chu, S. (Su), Czajkowski, J. (Jacek), Esko, T. (Tõnu), Fall, M. (Magnus), Kilpeläinen, T.O. (Tuomas), Lu, Y. (Yingchang), Mägi, R. (Reedik), Mihailov, E. (Evelin), Pers, T.H. (Tune), Rüeger, S. (Sina), Teumer, A. (Alexander), Ehret, G.B. (Georg), Ferreira, T. (Teresa), Heard-Costa, N.L. (Nancy), Karjalainen, J. (Juha), Lagou, V. (Vasiliki), Mahajan, A. (Anubha), Neinast, M.D. (Michael D.), Prokopenko, I. (Inga), Simino, J. (Jeannette), Teslovich, T.M. (Tanya M.), Jansen, R., Westra, H.J. (Harm-Jan), White, C.C. (Charles), Absher, D. (Devin), Ahluwalia, T.S. (Tarunveer Singh), Ahmad, S. (Shafqat), Albrecht, E. (Eva), Alves, A.C. (Alexessander Couto), Bragg-Gresham, J.L. (Jennifer L.), Craen, A.J. (Anton) de, Bis, J.C. (Joshua), Bonnefond, A. (Amélie), Boucher, G. (Gabrielle), Cadby, G. (Gemma), Cheng, Y.-C. (Yu-Ching), Chiang, C.W. (Charleston W K), Delgado, G., Demirkan, A. (Ayşe), Dueker, N. (Nicole), Eklund, N. (Niina), Eiriksdottir, G. (Gudny), Eriksson, J. (Joel), Feenstra, B. (Bjarke), Fischer, K. (Krista), Frau, F. (Francesca), Galesloot, T.E. (Tessel), Geller, F. (Frank), Goel, A. (Anuj), Gorski, M. (Mathias), Grammer, T.B. (Tanja), Gustafsson, S. (Stefan), Haitjema, S. (Saskia), Hottenga, J.J. (Jouke Jan), Huffman, J.E. (Jennifer), Jackson, A.U. (Anne), Jacobs, K.B. (Kevin), Johansson, A. (Åsa), Kaakinen, M. (Marika), Kleber, M.E. (Marcus), Lahti, J. (Jari), Leach, I.M. (Irene Mateo), Lehne, B. (Benjamin), Liu, Y. (Youfang), Lo, K.S., Lorentzon, M. (Mattias), Luan, J. (Jian'An), Madden, P.A. (Pamela), Mangino, M. (Massimo), McKnight, B. (Barbara), Medina-Gomez, C. (Carolina), Monda, K.L. (Keri), Montasser, M.E. (May E.), Müller, G. (Gabriele), Müller-Nurasyid, M. (Martina), Nolte, I.M. (Ilja), Panoutsopoulou, K. (Kalliope), Pascoe, L. (Laura), Paternoster, L. (Lavinia), Rayner, N.W. (Nigel William), Renström, F. (Frida), Rizzi, F. (Federica), Rose, L.M. (Lynda), Ryan, K.A. (Kathy A.), Salo, P. (Perttu), Sanna, S. (Serena), Scharnagl, H. (Hubert), Shi, J. (Jianxin), Smith, A.V. (Albert Vernon), Southam, L. (Lorraine), Stancáková, A. (Alena), Steinthorsdottir, V. (Valgerdur), Strawbridge, R.J. (Rona), Sung, Y.J. (Yun Ju), Tachmazidou, I. (Ioanna), Tanaka, T. (Toshiko), Thorleifsson, G. (Gudmar), Trompet, S. (Stella), Pervjakova, N. (Natalia), Tyrer, J.P. (Jonathan), Vandenput, L. (Liesbeth), Van Der Laan, S.W. (Sander W.), Velde, N. (Nathalie) van der, Setten, J. (Jessica) van, Vliet-Ostaptchouk, J.V. (Jana) van, Verweij, N. (Niek), Vlachopoulou, E. (Efthymia), Waite, L. (Lindsay), Wang, S.R. (Sophie), Wang, Z. (Zhaoming), Wild, S.H. (Sarah), Willenborg, C. (Christina), Wilson, J.F. (James), Wong, A. (Andrew), Yang, J. (Jian), Yengo, L. (Loic), Yerges-Armstrong, L.M. (Laura), Yu, L. (Lei), Zhang, W. (Weihua), Zhao, J.H. (Jing Hua), Andersson, E.A. (Ehm Astrid), Bakker, S.J.L. (Stephan), Baldassarre, D. (Damiano), Banasik, K. (Karina), Barcella, M. (Matteo), Barlassina, C. (Cristina), Bellis, C. (Claire), Benaglio, P. (Paola), Blangero, J. (John), Blüher, M. (Matthias), Bonnet, F. (Fabrice), Bonnycastle, L.L. (Lori), Boyd, H.A. (Heather), Bruinenberg, M. (M.), Buchman, A.S. (Aron S.), Campbell, H. (Harry), Chen, Y.D. (Y.), Chines, P.S. (Peter), Claudi-Boehm, S. (Simone), Cole, J.W. (John W.), Collins, F.S. (Francis), Geus, E.J.C. (Eco) de, Groot, L.C.P.G.M. (Lisette) de, Dimitriou, M. (Maria), Duan, J. (Jubao), Enroth, S. (Stefan), Eury, E. (Elodie), Farmaki, A.-E. (Aliki-Eleni), Forouhi, N.G. (Nita), Friedrich, N. (Nele), Gejman, P.V. (Pablo), Gigante, B. (Bruna), Glorioso, N. (Nicola), Go, A.T.J.I. (Attie), Gottesman, R.F. (Rebecca), Gräßler, J. (Jürgen), Grallert, H. (Harald), Grarup, N. (Niels), Gu, Y.-M. (Yu-Mei), Broer, L. (Linda), Ham, A.C. (Annelies), Hansen, T. (T.), Harris, T.B. (Tamara), Hartman, C.A. (Catharina A.), Hassinen, M. (Maija), Hastie, N. (Nick), Hattersley, A.T. (Andrew), Heath, A.C. (Andrew), Henders, A.K. (Anjali), Hernandez, D.G. (Dena), Hillege, H.L. (Hans), Holmen, O.L. (Oddgeir), Hovingh, G.K. (Kees), Hui, J. (Jennie), Husemoen, L.L. (Lise L.), Hutri-Kähönen, N. (Nina), Hysi, P.G. (Pirro), Illig, T. (Thomas), Jager, P.L. (Philip) de, Jalilzadeh, S. (Shapour), Jorgensen, T. (Torben), Jukema, J.W. (Jan Wouter), Juonala, M. (Markus), Kanoni, S. (Stavroula), Karaleftheri, M. (Maria), Khaw, K.T., Kinnunen, L. (Leena), Kittner, T. (Thomas), Koenig, W. (Wolfgang), Kolcic, I. (Ivana), Kovacs, P. (Peter), Krarup, N.T. (Nikolaj T.), Kratzer, W. (Wolfgang), Krüger, J. (Janine), Kuh, D. (Diana), Kumari, M. (Meena), Kyriakou, T. (Theodosios), Langenberg, C. (Claudia), Lannfelt, L. (Lars), Lanzani, C. (Chiara), Lotay, V. (Vaneet), Launer, L.J. (Lenore), Leander, K. (Karin), Lindström, J. (Jaana), Linneberg, A. (Allan), Liu, Y.-P. (Yan-Ping), Lobbens, S. (Stéphane), Luben, R.N. (Robert), Lyssenko, V. (Valeriya), Männistö, S. (Satu), Magnusson, P.K. (Patrik), McArdle, W.L. (Wendy), Menni, C. (Cristina), Merger, S. (Sigrun), Milani, L. (Lili), Montgomery, G.W. (Grant W.), Morris, A.P. (Andrew), Narisu, N. (Narisu), Nelis, M. (Mari), Ong, K.K. (Ken), Palotie, A. (Aarno), Perusse, L. (Louis), Pichler, I. (Irene), Pilia, M.G. (Maria Grazia), Pouta, A. (Anneli), Rheinberger, M. (Myriam), Ribel-Madsen, R. (Rasmus), Richards, M. (Marcus), Rice, K.M. (Kenneth), Rice, T.K. (Treva K.), Rivolta, C. (Carlo), Salomaa, V. (Veikko), Sanders, A.R. (Alan), Sarzynski, M.A. (Mark A.), Scholtens, S. (Salome), Scott, R.A. (Robert), Scott, W.R. (William R.), Sebert, S. (Sylvain), Sengupta, S. (Sebanti), Sennblad, B. (Bengt), Seufferlein, T. (Thomas), Silveira, A. (Angela), Slagboom, P.E. (Eline), Smit, J.H. (Jan), Sparsø, T. (Thomas), Stirrups, K. (Kathy), Stolk, R.P. (Ronald), Stringham, H.M. (Heather), Swertz, M.A. (Morris A.), Swift, A.J. (Amy), Syvänen, A.C., Tan, S.-T. (Sian-Tsung), Thorand, B. (Barbara), Tönjes, A. (Anke), Tremblay, A. (Angelo), Tsafantakis, E. (Emmanouil), Most, P.J. (Peter) van der, Völker, U. (Uwe), Vohl, M.-C. (Marie-Claude), Vonk, J.M. (Judith), Waldenberger, M. (Melanie), Walker, R.W. (Ryan W.), Wennauer, R. (Roman), Widen, E., Willemsen, G.A.H.M. (Gonneke), Wilsgaard, T. (Tom), Wright, A.F. (Alan), Zillikens, M.C. (Carola), Van Dijk, S. (Suzanne), Schoor, N.M. (Natasja) van, Asselbergs, F.W. (Folkert), Bakker, P.I.W. (Paul) de, Beckmann, J.S. (Jacques), Beilby, J.P. (John), Bennett, D.A. (David A.), Bergman, R.N. (Richard), Bergmann, S.M. (Sven), Böger, C.A. (Carsten), Boehm, B.O. (Bernhard), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Bornstein, S.R. (Stefan), Bottinger, E.P. (Erwin), Bouchard, C. (Claude), Chambers, J.C. (John), Chanock, S.J. (Stephen), Chasman, D.I. (Daniel), Cucca, F. (Francesco), Cusi, D. (Daniele), Dedoussis, G.V. (George), Erdmann, J. (Jeanette), Hagen, K. (Knut), Evans, D., Faire, U. (Ulf) de, Farrall, M. (Martin), Ferrucci, L. (Luigi), Ford, I. (Ian), Franke, L. (Lude), Franks, P.W. (Paul), Froguel, P. (Philippe), Gansevoort, R.T. (Ron), Gieger, C. (Christian), Grönberg, H. (Henrik), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Hall, P. (Per), Hamsten, A. (Anders), Harst, P. (Pim) van der, Hayward, C. (Caroline), Heliovaara, M. (Markku), Hengstenberg, C. (Christian), Hicks, A.A. (Andrew), Hingorani, A. (Aroon), Hofman, A. (Albert), Hu, F. (Frank), Huikuri, H.V. (Heikki), Hveem, K. (Kristian), James, A. (Alan), Jordan, J.M. (Joanne M.), Jula, A. (Antti), Kähönen, M. (Mika), Kajantie, E. (Eero), Kathiresan, S. (Sekar), Kiemeney, L.A.L.M. (Bart), Kivimaki, M. (Mika), Knekt, P., Koistinen, H. (Heikki), Kooner, J.S. (Jaspal S.), Koskinen, S. (Seppo), Kuusisto, J. (Johanna), Maerz, W. (Winfried), Martin, N.G. (Nicholas), Laakso, M. (Markku), Lakka, T.A. (Timo), Lehtimäki, T. (Terho), Lettre, G. (Guillaume), Levinson, D.F. (Douglas), Kao, W.H.L. (Wen), Lokki, M.L., Mäntyselkä, P. (Pekka), Melbye, M. (Mads), Metspalu, A. (Andres), Mitchell, B.D. (Braxton), Moll, F.L. (Frans), Murray, J.C. (Jeffrey), Musk, A.W. (Arthur), Nieminen, M.S. (Markku), Njølstad, I. (Inger), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Oostra, B.A. (Ben), Palmer, C. (Cameron), Pankow, J.S. (James), Pasterkamp, G. (Gerard), Pedersen, N.L. (Nancy), Pedersen, O. (Oluf), Penninx, B.W.J.H. (Brenda), Perola, M. (Markus), Peters, A. (Annette), Polasek, O. (Ozren), Pramstaller, P.P. (Peter Paul), Psaty, B.M. (Bruce M.), Qi, L. (Lu), Quertermous, T. (Thomas), Raitakari, O.T. (Olli T.), Rankinen, T. (Tuomo), Rauramaa, R. (Rainer), Ridker, P.M. (Paul), Rioux, J.D. (John), Rivadeneira Ramirez, F. (Fernando), Rotter, J.I. (Jerome I.), Rudan, I. (Igor), Ruijter, H.M. (Hester ) den, Saltevo, J. (Juha), Sattar, N. (Naveed), Schunkert, H. (Heribert), Schwarz, P.E.H. (Peter), Shuldiner, A.R. (Alan), Sinisalo, J. (Juha), Snieder, H. (Harold), Sørensen, T.I.A. (Thorkild), Spector, T.D. (Timothy), Staessen, J.A. (Jan A.), Stefania, B. (Bandinelli), Thorsteinsdottir, U. (Unnur), Stumvoll, M. (Michael), Tardif, J.-C. (Jean-Claude), Tremoli, E. (Elena), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Verbeek, A.L.M., Vermeulen, S.H.H.M. (Sita), Viikari, J. (Jorma), Vitart, V. (Veronique), Völzke, H. (Henry), Vollenweider, P. (Peter), Waeber, G. (Gérard), Walker, M. (Mark), Wallaschofski, H. (Henri), Wareham, N.J. (Nick), Watkins, H. (Hugh), Zeggini, E. (Eleftheria), Chakravarti, A. (Aravinda), Clegg, D.J. (Deborah J.), Cupples, L.A. (Adrienne), Gordon-Larsen, P. (Penny), Jaquish, C.E. (Cashell), Rao, D.C. (Dabeeru C.), Abecasis, G.R. (Goncalo R.), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Berndt, S.I. (Sonja), Boehnke, M. (Michael), Deloukas, P. (Panagiotis), Fox, C.S. (Caroline), Groop, L. (Leif), Hunter, D. (David), Ingelsson, E. (Erik), Kaplan, R.C. (Robert), McCarthy, M.I. (Mark I.), Mohlke, K.L. (Karen), O´Connell, J.R., Schlessinger, D. (David), Strachan, D.P. (David), Zwart, J-A. (John-Anker), Duijn, C.M. (Cornelia) van, Hirschhorn, J.N. (Joel), Lindgren, C.M. (Cecilia M.), Heid, I.M. (Iris), North, K.E. (Kari), Borecki, I.B. (Ingrid), Kutalik, Z. (Zoltán), Loos, R.J.F. (Ruth), Winkler, T.W. (Thomas W.), Justice, A.E. (Anne), Graff, M.J. (Maud J.L.), Barata, L. (Llilda), Feitosa, M.F. (Mary Furlan), Chu, S. (Su), Czajkowski, J. (Jacek), Esko, T. (Tõnu), Fall, M. (Magnus), Kilpeläinen, T.O. (Tuomas), Lu, Y. (Yingchang), Mägi, R. (Reedik), Mihailov, E. (Evelin), Pers, T.H. (Tune), Rüeger, S. (Sina), Teumer, A. (Alexander), Ehret, G.B. (Georg), Ferreira, T. (Teresa), Heard-Costa, N.L. (Nancy), Karjalainen, J. (Juha), Lagou, V. (Vasiliki), Mahajan, A. (Anubha), Neinast, M.D. (Michael D.), Prokopenko, I. (Inga), Simino, J. (Jeannette), Teslovich, T.M. (Tanya M.), Jansen, R., Westra, H.J. (Harm-Jan), White, C.C. (Charles), Absher, D. 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(Pamela), Mangino, M. (Massimo), McKnight, B. (Barbara), Medina-Gomez, C. (Carolina), Monda, K.L. (Keri), Montasser, M.E. (May E.), Müller, G. (Gabriele), Müller-Nurasyid, M. (Martina), Nolte, I.M. (Ilja), Panoutsopoulou, K. (Kalliope), Pascoe, L. (Laura), Paternoster, L. (Lavinia), Rayner, N.W. (Nigel William), Renström, F. (Frida), Rizzi, F. (Federica), Rose, L.M. (Lynda), Ryan, K.A. (Kathy A.), Salo, P. (Perttu), Sanna, S. (Serena), Scharnagl, H. (Hubert), Shi, J. (Jianxin), Smith, A.V. (Albert Vernon), Southam, L. (Lorraine), Stancáková, A. (Alena), Steinthorsdottir, V. (Valgerdur), Strawbridge, R.J. (Rona), Sung, Y.J. (Yun Ju), Tachmazidou, I. (Ioanna), Tanaka, T. (Toshiko), Thorleifsson, G. (Gudmar), Trompet, S. (Stella), Pervjakova, N. (Natalia), Tyrer, J.P. (Jonathan), Vandenput, L. (Liesbeth), Van Der Laan, S.W. (Sander W.), Velde, N. (Nathalie) van der, Setten, J. (Jessica) van, Vliet-Ostaptchouk, J.V. (Jana) van, Verweij, N. (Niek), Vlachopoulou, E. 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Abstract: Genome-wide association studies (GWAS) have identified more than 100 genetic variants contributing to BMI, a measure of body size, or waist-to-hip ratio (adjusted for BMI, WHRadjBMI), a measure of body shape. Body size and shape change as people grow older and these changes differ substantially between men and women. To systematically screen for age- and/or sex-specific effects of genetic variants on BMI and WHRadjBMI, we performed meta-analyses of 114 studies (up to 320,485 individuals of European descent) with genome-wide chip and/or Metabochip data by the Genetic Investigation of Anthropometric Traits (GIANT) Consortium. Each study tested the association of up to ~2.8M SNPs with BMI and WHRadjBMI in four strata (men ≤50y, men >50y, women ≤50y, women >50y) and summary statistics were combined in stratum-specific meta-analyses. We then screened for variants that showed age-specific effects (G x AGE), sex-specific effects (G x SEX) or age-specific effects that differed between men and women (G x AGE x SEX). For BMI, we identified 15 loci (11 previously established for main effects, four novel) that showed significant (FDR<5%) age-specific effects, of which 11 had larger effects in younger (<50y) than in older adults (≥50y). No sex-dependent effects were identified for B
Published: 2015
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19. New genetic loci link adipose and insulin biology to body fat distribution

Author: Shungin, D. (Dmitry), Winkler, T.W. (Thomas W.), Croteau-Chonka, D.C. (Damien), Ferreira, T. (Teresa), Locke, A. (Adam), Mägi, R. (Reedik), Strawbridge, R.J. (Rona), Pers, T.H. (Tune), Fischer, K. (Krista), Justice, A.E. (Anne), Workalemahu, T. (Tsegaselassie), Wu, J.M.W. (Joseph M. W.), Buchkovich, M.L. (Martin), Heard-Costa, N.L. (Nancy), Roman, T.S. (Tamara S.), Drong, A. (Alexander), Song, C. (Ci), Gustafsson, S. (Stefan), Day, F.R. (Felix), Esko, T. (Tõnu), Fall, M. (Magnus), Kutalik, Z. (Zolta'n), Luan, J., Randall, J.C. (Joshua), Scherag, A. (Andre), Vedantam, S. (Sailaja), Wood, A.R. (Andrew), Chen, J. (Jin), Fehrmann, R.S.N. (Rudolf), Karjalainen, J. (Juha), Kahali, B. (Bratati), Liu, C.-T. (Ching-Ti), Schmidt, E.M. (Ellen), Absher, D. (Devin), Amin, N. (Najaf), Beekman, M. (Marian), Bragg-Gresham, J.L. (Jennifer L.), Buyske, S. (Steven), Demirkan, A. (Ayşe), Ehret, G.B. (Georg), Feitosa, M.F. (Mary Furlan), Goel, A. (Anuj), Jackson, A.U. (Anne), Johnson, T. (Toby), Kleber, M.E. (Marcus), Kristiansson, K. (Kati), Mangino, M. (Massimo), Leach, I.M. (Irene Mateo), Medina-Gomez, M.C. (Carolina), Palmer, C. (Cameron), Pasko, D. (Dorota), Pechlivanis, S. (Sonali), Peters, M.J. (Marjolein), Prokopenko, I. (Inga), Stanca'kova', A. (Alena), Sung, Y.J. (Yun Ju), Tanaka, T. (Toshiko), Teumer, A. (Alexander), Vliet-Ostaptchouk, J.V. (Jana) van, Yengo, L. (Loic), Zhang, W. (Weihua), Albrecht, E. (Eva), Ärnlöv, J. (Johan), Arscott, G.M. (Gillian M.), Bandinelli, S. (Stefania), Barrett, A. (Angela), Bellis, C. (Claire), Bennett, A.J. (Amanda), Berne, C. (Christian), Blüher, M. (Matthias), Böhringer, S. (Stefan), Bonnet, F. (Fabrice), Böttcher, Y. (Yvonne), Bruinenberg, M. (M.), Carba, D.B. (Delia B.), Caspersen, I.H. (Ida H.), Clarke, R. (Robert), Daw, E.W. (E. Warwick), Deelen, J. (Joris), Deelman, E. (Ewa), Delgado, G., Doney, A.S.F. (Alex), Eklund, N. (Niina), Erdos, M.R. (Michael), Estrada Gil, K. (Karol), Eury, E. (Elodie), Friedrich, N. (Nele), Garcia, M. (Melissa), Giedraitis, V. (Vilmantas), Gigante, B. (Bruna), Go, A.T.J.I. (Attie), Golay, A. (Alain), Grallert, H. (Harald), Grammer, T.B. (Tanja), Gräsler, J. (Jürgen), Grewal, J. (Jagvir), Groves, C.J. (Christopher), Haller, T. (Toomas), Hallmans, G. (Göran), Hartman, C.A. (Catharina), Hassinen, M. (Maija), Hayward, C. (Caroline), Heikkilä, K. (Kauko), Herzig, K.H., Helmer, Q. (Quinta), Hillege, H.L. (Hans), Holmen, O.L. (Oddgeir), Hunt, S.C. (Steven), Isaacs, A. (Aaron), Ittermann, T. (Till), James, A.L. (Alan), Johansson, I. (Inger), Juliusdottir, T. (Thorhildur), Kalafati, I.-P. (Ioanna-Panagiota), Kinnunen, L. (Leena), Koenig, W. (Wolfgang), Kooner, I.K. (Ishminder K.), Kratzer, W. (Wolfgang), Lamina, C. (Claudia), Leander, K. (Karin), Lee, N.R. (Nanette R.), Lichtner, P. (Peter), Lind, L. (Lars), Lindström, J. (Jaana), Lobbens, S. (Stéphane), Lorentzon, M. (Mattias), MacH, F. (François), Magnusson, P.K. (Patrik), Mahajan, A. (Anubha), McArdle, W.L. (Wendy), Menni, C. (Cristina), Merger, S. (Sigrun), Mihailov, E. (Evelin), Milani, L. (Lili), Mills, R. (Rebecca), Moayyeri, A. (Alireza), Monda, K.L. (Keri), Mooijaart, S.P. (Simon), Mühleisen, T.W. (Thomas), Mulas, A. (Antonella), Müller, G. (Gabriele), Müller-Nurasyid, M. (Martina), Nagaraja, R. (Ramaiah), Nalls, M.A. (Michael), Narisu, N. (Narisu), Glorioso, N. (Nicola), Nolte, I.M. (Ilja M.), Olden, M. (Matthias), Rayner, N.W. (Nigel William), Renström, F. (Frida), Ried, J.S. (Janina), Robertson, N.R. (Neil R.), Rose, L.M. (Lynda), Sanna, S. (Serena), Scharnagl, H. (Hubert), Scholtens, S. (Salome), Sennblad, B. (Bengt), Seufferlein, T. (Thomas), Sitlani, C.M. (Colleen), Smith, A.V. (Davey), Stirrups, K. (Kathy), Stringham, H.M. (Heather), Sundstrom, J. (Johan), Swertz, M. (Morris), Swift, A.J. (Amy), Syvanen, A.C., Tayo, B. (Bamidele), Thorand, B. (Barbara), Thorleifsson, G. (Gudmar), Tomaschitz, A. (Andreas), Troffa, C. (Chiara), Oort, F.V.A. (Floor) van, Verweij, N. (Niek), Vonk, J.M. (Judith), Waite, L. (Lindsay), Wennauer, R. (Roman), Wilsgaard, T. (Tom), Wojczynski, M.K. (Mary ), Wong, A. (Andrew), Zhang, Q. (Qunyuan), Zhao, J.H. (Jing Hua), Brennan, E.P. (Eoin P.), Choi, M. (Murim), Eriksson, P. (Per), Folkersen, L. (Lasse), Franco-Cereceda, A. (Anders), Gharavi, A.G. (Ali G.), Hedman, A.K. (Asa), Hivert, M.-F. (Marie-France), Huang, J. (Jinyan), Kanoni, S. (Stavroula), Karpe, F. (Fredrik), Keildson, S. (Sarah), Kiryluk, K. (Krzysztof), Liang, L. (Liming), Lifton, R.P. (Richard), Ma, B. (Baoshan), McKnight, A.J. (Amy J.), McPherson, R. (Ruth), Metspalu, A. (Andres), Min, J.L. (Josine L.), Moffatt, M.F. (Miriam), Montgomery, G.W. (Grant), Murabito, J. (Joanne), Nicholson, G. (Ggeorge), Dimas, A.S. (Antigone), Olsson, C. (Christian), Perry, J.R.B. (John), Reinmaa, E. (Eva), Salem, R.M. (Rany), Sandholm, N. (Niina), Schadt, E.E. (Eric), Scott, R.A. (Robert), Stolk, L. (Lisette), Vallejo, E.E. (Edgar E.), Westra, H.J. (Harm-Jan), Zondervan, K.T. (Krina), Amouyel, P. (Philippe), Arveiler, D. (Dominique), Bakker, S.J.L. (Stephan), Beilby, J.P. (John), Bergman, R.N. (Richard), Blangero, J. (John), Brown, M.J. (Morris), Burnier, M. (Michel), Campbell, H. (Harry), Chakravarti, A. (Aravinda), Chines, P.S. (Peter), Claudi-Boehm, S. (Simone), Collins, F.S. (Francis), Crawford, D.C. (Dana), Danesh, J. (John), Faire, U. (Ulf) de, Geus, E.J.C. (Eco) de, Dörr, M. (Marcus), Erbel, R. (Raimund), Hagen, K. (Knut), Farrall, M. (Martin), Ferrannini, E. (Ele), Ferrieres, J. (Jean), Forouhi, N.G. (Nita), Forrester, T. (Terrence), Franco, O.H. (Oscar), Gansevoort, R.T. (Ron), Gieger, C. (Christian), Gudnason, V. (Vilmundur), Haiman, C.A. (Christopher), Harris, T.B. (Tamara), Hattersley, A.T. (Andrew), Heliovaara, M. (Markku), Hicks, A.A. (Andrew), Hingorani, A. (Aroon), Hoffmann, W. (Wolfgang), Hofman, A. (Albert), Homuth, G. (Georg), Humphries, S.E. (Steve), Hypponen, E. (Elina), Illig, T. (Thomas), Jarvelin, M.-R. (Marjo-Riitta), Johansen, B. (Berit), Jousilahti, P. (Pekka), Jula, A. (Antti), Kaprio, J. (Jaakko), Kee, F. (F.), Keinanen-Kiukaanniemi, S. (Sirkka), Kooner, J.S. (Jaspal S.), Kooperberg, C. (Charles), Kovacs, P. (Peter), Kraja, A. (Aldi), Kumari, M. (Meena), Kuulasmaa, K. (Kari), Kuusisto, J. (Johanna), Lakka, T.A. (Timo), Langenberg, C. (Claudia), Le Marchand, L. (Loic), Lehtimäki, T. (Terho), Lyssenko, V. (Valeriya), Männistö, S. (Satu), Marette, A. (Andre'), Matise, T.C. (Tara C.), McKenzie, C.A. (Colin A.), McKnight, B. (Barbara), Musk, A.W. (Arthur), Möhlenkamp, S. (Stefan), Morris, A.D. (Andrew), Nelis, M. (Mari), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Ong, K.K. (Ken K.), Penninx, B.W.J.H. (Brenda), Peters, A. (Annette), Pramstaller, P.P. (Peter Paul), Raitakari, O. (Olli), Rankinen, T. (Tuomo), Rao, D.C. (Dabeeru C.), Rice, T.K. (Treva K.), Ridker, P.M. (Paul), Ritchie, M.D. (Marylyn D.), Rudan, I. (Igor), Salomaa, V. (Veikko), Samani, N.J. (Nilesh), Saramies, J. (Jouko), Sarzynski, M.A. (Mark A.), Schwarz, P.E.H. (Peter E. H.), Shuldiner, A.R. (Alan), Staessen, J.A. (Jan), Steinthorsdottir, V. (Valgerdur), Stolk, R.P. (Ronald), Strauch, K. (Konstantin), Tönjes, A. (Anke), Tremblay, A. (Angelo), Tremoli, E. (Elena), Vohl, M.-C. (Marie-Claude), Völker, U. (Uwe), Vollenweider, P. (Peter), Wilson, J.F. (James F), Witteman, J.C.M. (Jacqueline), Adair, L.S. (Linda), Bochud, M. (Murielle), Boehm, B.O. (Bernhard), Bornstein, S.R. (Stefan R.), Bouchard, C. (Claude), Cauchi, S. (Ste'phane), Caulfield, M. (Mark), Chambers, J.C. (John C.), Chasman, D.I. (Daniel), Cooper, R.S. (Richard S.), Dedoussis, G.V. (George), Ferrucci, L. (Luigi), Froguel, P. (Philippe), Grabe, H.J. (Hans Jörgen), Hamsten, A. (Anders), Hui, J. (Jennie), Hveem, K. (Kristian), Jöckel, K.-H. (Karl-Heinz), Kivimaki, M. (Mika), Kuh, D. (Diana), Laakso, M. (Markku), Liu, Y. (YongMei), März, W. (Winfried), Munroe, P. (Patricia), Njølstad, I. (Inger), Oostra, B.A. (Ben), Palmer, C.N.A. (Colin), Pedersen, N.L. (Nancy L.), Perola, M. (Markus), Perusse, L. (Louis), Peters, U. (Ulrike), Power, C. (Christopher), Quertermous, T. (Thomas), Rauramaa, R. (Rainer), Rivadeneira Ramirez, F. (Fernando), Saaristo, T. (Timo), Saleheen, D., Sinisalo, J. (Juha), Slagboom, P.E. (Eline), Snieder, H. (Harold), Spector, T.D. (Timothy), Thorsteinsdottir, U. (Unnur), Stumvoll, M. (Michael), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Harst, P. (Pim) van der, Veronesi, G. (Giovanni), Walker, M. (Mark), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wichmann, H.E. (Heinz Erich), Abecasis, G.R. (Gonçalo), Assimes, T.L. (Themistocles), Berndt, S.I. (Sonja), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Franke, L. (Lude), Frayling, T.M. (Timothy), Groop, L. (Leif), Hunter, D. (David), Kaplan, R.C. (Robert), O´Connell, J.R., Qi, L. (Lu), Schlessinger, D. (David), Strachan, D.P. (David), Zwart, J-A. (John-Anker), Duijn, C.M. (Cornelia) van, Willer, C.J. (Cristen), Visscher, P.M. (Peter), Yang, J. (Joanna), Hirschhorn, J.N. (Joel N.), Zillikens, M.C. (Carola), McCarthy, M.I. (Mark), Speliotes, E.K. (Elizabeth), North, K.E. (Kari), Fox, C.S. (Caroline S.), Barroso, I.E. (Inês), Franks, P.W. (Paul), Anderson, D. (Denise), Ingelsson, E. (Erik), Heid, I.M. (Iris), Loos, R.J.F. (Ruth), Cupples, L.A. (Adrienne), Morris, A.P. (Andrew), Lindgren, C.M. (Cecilia), Mohlke, K.L. (Karen), Shungin, D. (Dmitry), Winkler, T.W. (Thomas W.), Croteau-Chonka, D.C. (Damien), Ferreira, T. (Teresa), Locke, A. (Adam), Mägi, R. (Reedik), Strawbridge, R.J. (Rona), Pers, T.H. (Tune), Fischer, K. (Krista), Justice, A.E. (Anne), Workalemahu, T. (Tsegaselassie), Wu, J.M.W. (Joseph M. W.), Buchkovich, M.L. (Martin), Heard-Costa, N.L. (Nancy), Roman, T.S. (Tamara S.), Drong, A. (Alexander), Song, C. (Ci), Gustafsson, S. (Stefan), Day, F.R. (Felix), Esko, T. (Tõnu), Fall, M. (Magnus), Kutalik, Z. (Zolta'n), Luan, J., Randall, J.C. (Joshua), Scherag, A. (Andre), Vedantam, S. (Sailaja), Wood, A.R. (Andrew), Chen, J. (Jin), Fehrmann, R.S.N. (Rudolf), Karjalainen, J. (Juha), Kahali, B. (Bratati), Liu, C.-T. (Ching-Ti), Schmidt, E.M. (Ellen), Absher, D. (Devin), Amin, N. (Najaf), Beekman, M. (Marian), Bragg-Gresham, J.L. (Jennifer L.), Buyske, S. (Steven), Demirkan, A. (Ayşe), Ehret, G.B. (Georg), Feitosa, M.F. (Mary Furlan), Goel, A. (Anuj), Jackson, A.U. (Anne), Johnson, T. (Toby), Kleber, M.E. (Marcus), Kristiansson, K. (Kati), Mangino, M. (Massimo), Leach, I.M. (Irene Mateo), Medina-Gomez, M.C. (Carolina), Palmer, C. (Cameron), Pasko, D. (Dorota), Pechlivanis, S. (Sonali), Peters, M.J. (Marjolein), Prokopenko, I. (Inga), Stanca'kova', A. (Alena), Sung, Y.J. (Yun Ju), Tanaka, T. (Toshiko), Teumer, A. (Alexander), Vliet-Ostaptchouk, J.V. (Jana) van, Yengo, L. (Loic), Zhang, W. (Weihua), Albrecht, E. (Eva), Ärnlöv, J. (Johan), Arscott, G.M. (Gillian M.), Bandinelli, S. (Stefania), Barrett, A. (Angela), Bellis, C. (Claire), Bennett, A.J. (Amanda), Berne, C. (Christian), Blüher, M. (Matthias), Böhringer, S. (Stefan), Bonnet, F. (Fabrice), Böttcher, Y. (Yvonne), Bruinenberg, M. (M.), Carba, D.B. (Delia B.), Caspersen, I.H. (Ida H.), Clarke, R. (Robert), Daw, E.W. (E. Warwick), Deelen, J. (Joris), Deelman, E. (Ewa), Delgado, G., Doney, A.S.F. (Alex), Eklund, N. (Niina), Erdos, M.R. (Michael), Estrada Gil, K. (Karol), Eury, E. (Elodie), Friedrich, N. (Nele), Garcia, M. (Melissa), Giedraitis, V. (Vilmantas), Gigante, B. (Bruna), Go, A.T.J.I. (Attie), Golay, A. (Alain), Grallert, H. (Harald), Grammer, T.B. (Tanja), Gräsler, J. (Jürgen), Grewal, J. (Jagvir), Groves, C.J. (Christopher), Haller, T. (Toomas), Hallmans, G. (Göran), Hartman, C.A. (Catharina), Hassinen, M. (Maija), Hayward, C. (Caroline), Heikkilä, K. (Kauko), Herzig, K.H., Helmer, Q. (Quinta), Hillege, H.L. (Hans), Holmen, O.L. (Oddgeir), Hunt, S.C. (Steven), Isaacs, A. (Aaron), Ittermann, T. (Till), James, A.L. (Alan), Johansson, I. (Inger), Juliusdottir, T. (Thorhildur), Kalafati, I.-P. (Ioanna-Panagiota), Kinnunen, L. (Leena), Koenig, W. (Wolfgang), Kooner, I.K. (Ishminder K.), Kratzer, W. (Wolfgang), Lamina, C. (Claudia), Leander, K. (Karin), Lee, N.R. (Nanette R.), Lichtner, P. (Peter), Lind, L. (Lars), Lindström, J. (Jaana), Lobbens, S. (Stéphane), Lorentzon, M. (Mattias), MacH, F. (François), Magnusson, P.K. (Patrik), Mahajan, A. (Anubha), McArdle, W.L. (Wendy), Menni, C. (Cristina), Merger, S. (Sigrun), Mihailov, E. (Evelin), Milani, L. (Lili), Mills, R. (Rebecca), Moayyeri, A. (Alireza), Monda, K.L. (Keri), Mooijaart, S.P. (Simon), Mühleisen, T.W. (Thomas), Mulas, A. (Antonella), Müller, G. (Gabriele), Müller-Nurasyid, M. (Martina), Nagaraja, R. (Ramaiah), Nalls, M.A. (Michael), Narisu, N. (Narisu), Glorioso, N. (Nicola), Nolte, I.M. (Ilja M.), Olden, M. (Matthias), Rayner, N.W. (Nigel William), Renström, F. (Frida), Ried, J.S. (Janina), Robertson, N.R. (Neil R.), Rose, L.M. (Lynda), Sanna, S. (Serena), Scharnagl, H. (Hubert), Scholtens, S. (Salome), Sennblad, B. (Bengt), Seufferlein, T. (Thomas), Sitlani, C.M. (Colleen), Smith, A.V. (Davey), Stirrups, K. (Kathy), Stringham, H.M. (Heather), Sundstrom, J. (Johan), Swertz, M. (Morris), Swift, A.J. (Amy), Syvanen, A.C., Tayo, B. (Bamidele), Thorand, B. (Barbara), Thorleifsson, G. (Gudmar), Tomaschitz, A. (Andreas), Troffa, C. (Chiara), Oort, F.V.A. (Floor) van, Verweij, N. (Niek), Vonk, J.M. (Judith), Waite, L. (Lindsay), Wennauer, R. (Roman), Wilsgaard, T. (Tom), Wojczynski, M.K. (Mary ), Wong, A. (Andrew), Zhang, Q. (Qunyuan), Zhao, J.H. (Jing Hua), Brennan, E.P. (Eoin P.), Choi, M. (Murim), Eriksson, P. (Per), Folkersen, L. (Lasse), Franco-Cereceda, A. (Anders), Gharavi, A.G. (Ali G.), Hedman, A.K. (Asa), Hivert, M.-F. (Marie-France), Huang, J. (Jinyan), Kanoni, S. (Stavroula), Karpe, F. (Fredrik), Keildson, S. (Sarah), Kiryluk, K. (Krzysztof), Liang, L. (Liming), Lifton, R.P. (Richard), Ma, B. (Baoshan), McKnight, A.J. (Amy J.), McPherson, R. (Ruth), Metspalu, A. (Andres), Min, J.L. (Josine L.), Moffatt, M.F. (Miriam), Montgomery, G.W. (Grant), Murabito, J. (Joanne), Nicholson, G. (Ggeorge), Dimas, A.S. (Antigone), Olsson, C. (Christian), Perry, J.R.B. (John), Reinmaa, E. (Eva), Salem, R.M. (Rany), Sandholm, N. (Niina), Schadt, E.E. (Eric), Scott, R.A. (Robert), Stolk, L. (Lisette), Vallejo, E.E. (Edgar E.), Westra, H.J. (Harm-Jan), Zondervan, K.T. (Krina), Amouyel, P. (Philippe), Arveiler, D. (Dominique), Bakker, S.J.L. (Stephan), Beilby, J.P. (John), Bergman, R.N. (Richard), Blangero, J. (John), Brown, M.J. (Morris), Burnier, M. (Michel), Campbell, H. (Harry), Chakravarti, A. (Aravinda), Chines, P.S. (Peter), Claudi-Boehm, S. (Simone), Collins, F.S. (Francis), Crawford, D.C. (Dana), Danesh, J. (John), Faire, U. (Ulf) de, Geus, E.J.C. (Eco) de, Dörr, M. (Marcus), Erbel, R. (Raimund), Hagen, K. (Knut), Farrall, M. (Martin), Ferrannini, E. (Ele), Ferrieres, J. (Jean), Forouhi, N.G. (Nita), Forrester, T. (Terrence), Franco, O.H. (Oscar), Gansevoort, R.T. (Ron), Gieger, C. (Christian), Gudnason, V. (Vilmundur), Haiman, C.A. (Christopher), Harris, T.B. (Tamara), Hattersley, A.T. (Andrew), Heliovaara, M. (Markku), Hicks, A.A. (Andrew), Hingorani, A. (Aroon), Hoffmann, W. (Wolfgang), Hofman, A. (Albert), Homuth, G. (Georg), Humphries, S.E. (Steve), Hypponen, E. (Elina), Illig, T. (Thomas), Jarvelin, M.-R. (Marjo-Riitta), Johansen, B. (Berit), Jousilahti, P. (Pekka), Jula, A. (Antti), Kaprio, J. (Jaakko), Kee, F. (F.), Keinanen-Kiukaanniemi, S. (Sirkka), Kooner, J.S. (Jaspal S.), Kooperberg, C. (Charles), Kovacs, P. (Peter), Kraja, A. (Aldi), Kumari, M. (Meena), Kuulasmaa, K. (Kari), Kuusisto, J. (Johanna), Lakka, T.A. (Timo), Langenberg, C. (Claudia), Le Marchand, L. (Loic), Lehtimäki, T. (Terho), Lyssenko, V. (Valeriya), Männistö, S. (Satu), Marette, A. (Andre'), Matise, T.C. (Tara C.), McKenzie, C.A. (Colin A.), McKnight, B. (Barbara), Musk, A.W. (Arthur), Möhlenkamp, S. (Stefan), Morris, A.D. (Andrew), Nelis, M. (Mari), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Ong, K.K. (Ken K.), Penninx, B.W.J.H. (Brenda), Peters, A. (Annette), Pramstaller, P.P. (Peter Paul), Raitakari, O. (Olli), Rankinen, T. (Tuomo), Rao, D.C. (Dabeeru C.), Rice, T.K. (Treva K.), Ridker, P.M. (Paul), Ritchie, M.D. (Marylyn D.), Rudan, I. (Igor), Salomaa, V. (Veikko), Samani, N.J. (Nilesh), Saramies, J. (Jouko), Sarzynski, M.A. (Mark A.), Schwarz, P.E.H. (Peter E. H.), Shuldiner, A.R. (Alan), Staessen, J.A. (Jan), Steinthorsdottir, V. (Valgerdur), Stolk, R.P. (Ronald), Strauch, K. (Konstantin), Tönjes, A. (Anke), Tremblay, A. (Angelo), Tremoli, E. (Elena), Vohl, M.-C. (Marie-Claude), Völker, U. (Uwe), Vollenweider, P. (Peter), Wilson, J.F. (James F), Witteman, J.C.M. (Jacqueline), Adair, L.S. (Linda), Bochud, M. (Murielle), Boehm, B.O. (Bernhard), Bornstein, S.R. (Stefan R.), Bouchard, C. (Claude), Cauchi, S. (Ste'phane), Caulfield, M. (Mark), Chambers, J.C. (John C.), Chasman, D.I. (Daniel), Cooper, R.S. (Richard S.), Dedoussis, G.V. (George), Ferrucci, L. (Luigi), Froguel, P. (Philippe), Grabe, H.J. (Hans Jörgen), Hamsten, A. (Anders), Hui, J. (Jennie), Hveem, K. (Kristian), Jöckel, K.-H. (Karl-Heinz), Kivimaki, M. (Mika), Kuh, D. (Diana), Laakso, M. (Markku), Liu, Y. (YongMei), März, W. (Winfried), Munroe, P. (Patricia), Njølstad, I. (Inger), Oostra, B.A. (Ben), Palmer, C.N.A. (Colin), Pedersen, N.L. (Nancy L.), Perola, M. (Markus), Perusse, L. (Louis), Peters, U. (Ulrike), Power, C. (Christopher), Quertermous, T. (Thomas), Rauramaa, R. (Rainer), Rivadeneira Ramirez, F. (Fernando), Saaristo, T. (Timo), Saleheen, D., Sinisalo, J. (Juha), Slagboom, P.E. (Eline), Snieder, H. (Harold), Spector, T.D. (Timothy), Thorsteinsdottir, U. (Unnur), Stumvoll, M. (Michael), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Harst, P. (Pim) van der, Veronesi, G. (Giovanni), Walker, M. (Mark), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wichmann, H.E. (Heinz Erich), Abecasis, G.R. (Gonçalo), Assimes, T.L. (Themistocles), Berndt, S.I. (Sonja), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Franke, L. (Lude), Frayling, T.M. (Timothy), Groop, L. (Leif), Hunter, D. (David), Kaplan, R.C. (Robert), O´Connell, J.R., Qi, L. (Lu), Schlessinger, D. (David), Strachan, D.P. (David), Zwart, J-A. (John-Anker), Duijn, C.M. (Cornelia) van, Willer, C.J. (Cristen), Visscher, P.M. (Peter), Yang, J. (Joanna), Hirschhorn, J.N. (Joel N.), Zillikens, M.C. (Carola), McCarthy, M.I. (Mark), Speliotes, E.K. (Elizabeth), North, K.E. (Kari), Fox, C.S. (Caroline S.), Barroso, I.E. (Inês), Franks, P.W. (Paul), Anderson, D. (Denise), Ingelsson, E. (Erik), Heid, I.M. (Iris), Loos, R.J.F. (Ruth), Cupples, L.A. (Adrienne), Morris, A.P. (Andrew), Lindgren, C.M. (Cecilia), and Mohlke, K.L. (Karen)
Abstract: Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10-8). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.
Published: 2015
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20. RANTES/CCL5 and risk for coronary events: Results from the MONICA/KORA Augsburg case-cohort, Athero-express and CARDIoGRAM studies

Author: Kathiresan, S. (Sekar), Reilly, M.P. (Muredach), Samani, N.J. (Nilesh), Schunkert, H. (Heribert), Erdmann, J. (Jeanette), Moll, F.L. (Frans), Boerwinkle, E.A. (Eric), Hall, A. (Anne), Hengstenberg, C. (Christian), König, I.R. (Inke), Laaksonen, R. (Reijo), McPherson, R. (Ruth), Thompson, J.R. (John), Thorsteinsdottir, U. (Unnur), Ziegler, A. (Andreas), Koenig, W. (Wolfgang), Chen, L. (Li), Cupples, L.A. (Adrienne), Halperin, E. (Eran), Musunuru, K. (Kiran), Preuss, M. (Michael), Schillert, A. (Arne), Thorleifsson, G. (Gudmar), Voight, B.F. (Benjamin), Wells, G.A. (George), Deloukas, P. (Panagiotis), Holm, H. (Hilma), Roberts, R. (Robert), Stewart, A.F.R. (Alexandre), Fortmann, S.P. (Stephen), Go, A.T.J.I. (Attie), Hlatky, M.A. (Mark), Iribarren, C. (Carlos), Knowles, J.W. (Joshua), Myers, R.H. (Richard), Quertermous, T. (Thomas), Sidney, S. (Steven), Risch, N., Tang, H. (Hui), Blankenberg, S. (Stefan), Zeller, T. (Tanja), Wild, P.S. (Philipp), Schnabel, R.B. (Renate), Sinning, C. (Christoph), Lackner, K.J. (Karl), Tiret, L. (Laurence), Nicaud, V., Cambien, F. (François), Bickel, H. (Horst), Rupprecht, H.J., Perret, C. (Claire), Proust, C. (Carole), Munzel, T. (Thomas), Barbalic, M. (maja), Bis, J.C. (Joshua), Chen, I.Y.-D. (Ida Yii-Der), Dehghan, A. (Abbas), Demissie-Banjaw, S. (Serkalem), Folsom, A.R. (Aaron), Glazer, N.L. (Nicole), Gudnason, V. (Vilmundur), Harris, T.B. (Tamara), Heckbert, S.R. (Susan), Levy, D. (Daniel), Lumley, T. (Thomas), Marciante, K. (Kristin), Morrison, A.C. (Alanna), O'Donnell, C.J. (Christopher), Psaty, B.M. (Bruce), Rice, K. (Kenneth), Rotter, J.I. (Jerome), Siscovick, D.S. (David), Smith, N.L. (Nicholas), Smith, A.V. (Davey), Taylor, K.D. (Kent), Duijn, C.M. (Cornelia) van, Volcik, K.A. (Kelly), Whitteman, J. (Jaqueline), Ramachandran, V.S. (Vasan), Hofman, A. (Albert), Uitterlinden, A.G. (André), Gretarsdottir, S. (Solveig), Gulcher, J.R. (Jeffrey), Kong, A. (Augustine), Zwart, J-A. (John-Anker), Thorgeirsson, G. (Gudmundur), Andersen, K.K. (Karl), Fischer, M. (Marcus), Großhennig, A. (Anika), Lieb, W. (Wolfgang), Linsel-Nitschke, P. (Patrick), Stark, K. (Klaus), Schreiber, S. (Stefan), Wichmann, H.E. (Heinz Erich), Aherrahrou, Z. (Zouhair), Bruse, P. (Petra), Doering, A. (Angela), Illig, T. (Thomas), Klopp, N. (Norman), Loley, C. (Christina), Medack, A. (Anja), Meisinger, C. (Christa), Meitinger, T. (Thomas), Nahrstedt, J. (Janja), Peters, A. (Annette), Wagner, A.K. (Arnika), Willenborg, C. (Christina), Böhm, B., Dobnig, H. (Harald), Grammer, T.B. (Tanja), Hoffmann, M.M. (Michael), Kleber, M. (Martina), März, W. (Winfried), Meinitzer, A. (Andreas), Winkelmann, B., Pilz, D.T. (Daniela), Renner, W. (Wilfried), Scharnagl, H. (Hubert), Stojakovic, T. (Tatjana), Tomaschitz, A. (Andreas), Winkler, K. (Karl), Guiducci, C. (Candace), Burtt, N.P. (Noël), Gabriel, S.B. (Stacey), Elosua, R. (Roberto), Peltonen, L. (Leena Johanna), Salomaa, V. (Veikko), Schwartz, S.M. (Stephen), Melander, O. (Olle), Altshuler, D. (David), Dandona, S. (Sonny), Jarinova, O. (Olga), Qu, L. (Liming), Wilensky, A. (Asaf), Matthai, W. (William), Hakonarson, H. (Hakon), Devaney, J. (Joseph), Burnett, M.S., Pichard, A.D., Kent, K.M. (Kenneth), Satler, L.F., Lindsay, J.M. (Joseph), Waksman, R. (Ron), Knouff, C.W. (Christopher), Waterworth, D. (Dawn), Walker, M.C. (Max), Mooser, V. (Vincent), Epstein, S.E. (Stephen), Rader, D.J. (Daniel), Braund, P.S. (Peter), Nelson, C.P. (Christopher P.), Li, M. (Mingyao), Wright, B.J. (Benjamin), Balmforth, A.J. (Anthony), Ball, S.G. (Stephen), Kathiresan, S. (Sekar), Reilly, M.P. (Muredach), Samani, N.J. (Nilesh), Schunkert, H. (Heribert), Erdmann, J. (Jeanette), Moll, F.L. (Frans), Boerwinkle, E.A. (Eric), Hall, A. (Anne), Hengstenberg, C. (Christian), König, I.R. (Inke), Laaksonen, R. (Reijo), McPherson, R. (Ruth), Thompson, J.R. (John), Thorsteinsdottir, U. (Unnur), Ziegler, A. (Andreas), Koenig, W. (Wolfgang), Chen, L. (Li), Cupples, L.A. (Adrienne), Halperin, E. (Eran), Musunuru, K. (Kiran), Preuss, M. (Michael), Schillert, A. (Arne), Thorleifsson, G. (Gudmar), Voight, B.F. (Benjamin), Wells, G.A. (George), Deloukas, P. (Panagiotis), Holm, H. (Hilma), Roberts, R. (Robert), Stewart, A.F.R. (Alexandre), Fortmann, S.P. (Stephen), Go, A.T.J.I. (Attie), Hlatky, M.A. (Mark), Iribarren, C. (Carlos), Knowles, J.W. (Joshua), Myers, R.H. (Richard), Quertermous, T. (Thomas), Sidney, S. (Steven), Risch, N., Tang, H. (Hui), Blankenberg, S. (Stefan), Zeller, T. (Tanja), Wild, P.S. (Philipp), Schnabel, R.B. (Renate), Sinning, C. (Christoph), Lackner, K.J. (Karl), Tiret, L. (Laurence), Nicaud, V., Cambien, F. (François), Bickel, H. (Horst), Rupprecht, H.J., Perret, C. (Claire), Proust, C. (Carole), Munzel, T. (Thomas), Barbalic, M. (maja), Bis, J.C. (Joshua), Chen, I.Y.-D. (Ida Yii-Der), Dehghan, A. (Abbas), Demissie-Banjaw, S. (Serkalem), Folsom, A.R. (Aaron), Glazer, N.L. (Nicole), Gudnason, V. (Vilmundur), Harris, T.B. (Tamara), Heckbert, S.R. (Susan), Levy, D. (Daniel), Lumley, T. (Thomas), Marciante, K. (Kristin), Morrison, A.C. (Alanna), O'Donnell, C.J. (Christopher), Psaty, B.M. (Bruce), Rice, K. (Kenneth), Rotter, J.I. (Jerome), Siscovick, D.S. (David), Smith, N.L. (Nicholas), Smith, A.V. (Davey), Taylor, K.D. (Kent), Duijn, C.M. (Cornelia) van, Volcik, K.A. (Kelly), Whitteman, J. (Jaqueline), Ramachandran, V.S. (Vasan), Hofman, A. (Albert), Uitterlinden, A.G. (André), Gretarsdottir, S. (Solveig), Gulcher, J.R. (Jeffrey), Kong, A. (Augustine), Zwart, J-A. (John-Anker), Thorgeirsson, G. (Gudmundur), Andersen, K.K. (Karl), Fischer, M. (Marcus), Großhennig, A. (Anika), Lieb, W. (Wolfgang), Linsel-Nitschke, P. (Patrick), Stark, K. (Klaus), Schreiber, S. (Stefan), Wichmann, H.E. (Heinz Erich), Aherrahrou, Z. (Zouhair), Bruse, P. (Petra), Doering, A. (Angela), Illig, T. (Thomas), Klopp, N. (Norman), Loley, C. (Christina), Medack, A. (Anja), Meisinger, C. (Christa), Meitinger, T. (Thomas), Nahrstedt, J. (Janja), Peters, A. (Annette), Wagner, A.K. (Arnika), Willenborg, C. (Christina), Böhm, B., Dobnig, H. (Harald), Grammer, T.B. (Tanja), Hoffmann, M.M. (Michael), Kleber, M. (Martina), März, W. (Winfried), Meinitzer, A. (Andreas), Winkelmann, B., Pilz, D.T. (Daniela), Renner, W. (Wilfried), Scharnagl, H. (Hubert), Stojakovic, T. (Tatjana), Tomaschitz, A. (Andreas), Winkler, K. (Karl), Guiducci, C. (Candace), Burtt, N.P. (Noël), Gabriel, S.B. (Stacey), Elosua, R. (Roberto), Peltonen, L. (Leena Johanna), Salomaa, V. (Veikko), Schwartz, S.M. (Stephen), Melander, O. (Olle), Altshuler, D. (David), Dandona, S. (Sonny), Jarinova, O. (Olga), Qu, L. (Liming), Wilensky, A. (Asaf), Matthai, W. (William), Hakonarson, H. (Hakon), Devaney, J. (Joseph), Burnett, M.S., Pichard, A.D., Kent, K.M. (Kenneth), Satler, L.F., Lindsay, J.M. (Joseph), Waksman, R. (Ron), Knouff, C.W. (Christopher), Waterworth, D. (Dawn), Walker, M.C. (Max), Mooser, V. (Vincent), Epstein, S.E. (Stephen), Rader, D.J. (Daniel), Braund, P.S. (Peter), Nelson, C.P. (Christopher P.), Li, M. (Mingyao), Wright, B.J. (Benjamin), Balmforth, A.J. (Anthony), and Ball, S.G. (Stephen)
Abstract: Background: The chemokine RANTES (regulated on activation, normal T-cell expressed and secreted)/CCL5 is involved in the pathogenesis of cardiovascular disease in mice, whereas less is known in humans. We hypothesised that its relevance for atherosclerosis should be reflected by associations between CCL5 gene variants, RANTES serum concentrations and protein levels in atherosclerotic plaques and risk for coronary events. Methods and Findings: We conducted a case-cohort study within the population-based MONICA/KORA Augsburg studies. Baseline RANTES serum levels were measured in 363 individuals with incident coronary events and 1,908 non-cases (mean follow-up: 10.2±4
Published: 2011
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21. Long-term neurodevelopmental outcome of monochorionic and matched dichorionic twins

Author: Hack, K.E.A. (Karlen), Koopman-Esseboom, C. (Corine), Derks, J.B. (Jan), Elias, S.G. (Sjoerd), Kleine, M.J.K. (Martin) de, Baerts, W. (Wim), Go, A.T.J.I. (Attie), Schaap, A.H.P. (Arty), Hoeven, M.A.B.H.M. (Mark) van der, Eggink, A.J. (Alex), Sollie, K.M. (Krystyna), Weisglas-Kuperus, N. (Nynke), Visser, G.H. (Gerhard Henk), Hack, K.E.A. (Karlen), Koopman-Esseboom, C. (Corine), Derks, J.B. (Jan), Elias, S.G. (Sjoerd), Kleine, M.J.K. (Martin) de, Baerts, W. (Wim), Go, A.T.J.I. (Attie), Schaap, A.H.P. (Arty), Hoeven, M.A.B.H.M. (Mark) van der, Eggink, A.J. (Alex), Sollie, K.M. (Krystyna), Weisglas-Kuperus, N. (Nynke), and Visser, G.H. (Gerhard Henk)
Abstract: Background: Monochorionic (MC) twins are at increased risk for perinatal mortality and serious morbidity due to the presence of placental vascular anastomoses. Cerebral injury can be secondary to haemodynamic and hematological disorders during pregnancy (especially twin-to-twin transfusion syndrome (TTTS) or intrauterine co-twin death) or from postnatal injury associated with prematurity and low birth weight, common complications in twin pregnancies. We investigated neurodevelopmental outcome in MC and dichorionic (DC) twins at the age of two years. Methods: This was a prospective cohort study. Cerebral palsy (CP) was studied in 182 MC infants and 189 DC infants matched for weight and age at delivery, gender, ethnicity of the mother and study center. After losses to follow-up, 282 of the 366 infants without CP were available to be tested with the Griffiths Mental Developmental Scales at 22 months corrected age, all born between January 2005 and January 2006 in nine perinatal centers in The Netherlands. Due to phenotypic (un)alikeness in mono-or dizygosity, the principal investigator was not blinded to chorionic status; perinatal outcome, with exception of co-twin death, was not known to the examiner. Findings: Four out of 182 MC infants had CP (2.2%) - two of the four CP-cases were due to complications specific to MC twin pregnancies (TTTS and co-twin death) and the other two cases of CP were the result of cystic PVL after preterm birth - compared to one sibling of a DC twin (0.5%; OR 4.2, 95% CI 0.5-38.2) of unknown origin. Follow-up rate of neurodevelopmental outcome by Griffith's test was 76%. The majority of 2-year-old twins had normal developmental status. There were no significant differences between MC and DC twins. One MC infant (0.7%) had a developmental delay compared to 6 DC infants (4.2%; OR 0.2, 95% 0.0-1.4). Birth weight discordancy did not influence long-term outcome, though the smaller twin had slightly lower developmental scores than its larger co-t
Published: 2009
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22. Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study

Author: Boormans, E.M.A. (Elisabeth), Birnie, E. (Erwin), Wildschut, H.I.J. (Hajo), Schuring-Blom, G.H. (Heleen), Oepkes, D. (Dick), Oppen, C.A.C. (Carla) van, Nijhuis, J.G. (Jan), Macville, M.V.E. (Merryn), Kooper, A.J.A. (Angelique), Huijsdens, K. (Karin), Hoffer, M.J.V. (Mariëtte), Go, A.T.J.I. (Attie), Boormans, E.M.A. (Elisabeth), Birnie, E. (Erwin), Wildschut, H.I.J. (Hajo), Schuring-Blom, G.H. (Heleen), Oepkes, D. (Dick), Oppen, C.A.C. (Carla) van, Nijhuis, J.G. (Jan), Macville, M.V.E. (Merryn), Kooper, A.J.A. (Angelique), Huijsdens, K. (Karin), Hoffer, M.J.V. (Mariëtte), and Go, A.T.J.I. (Attie)
Abstract: BACKGROUND: In the past 30 years karyotyping was the gold standard for prenatal diagnosis of chromosomal aberrations in the fetus. Traditional karyotyping (TKT) has a high accuracy and reliability. However, it is labor intensive, the results take 14-21 days, the costs are high and unwanted findings such as abnormalities with unknown clinical relevance are not uncommon. These disadvantages challenged the practice of karyotyping. Multiplex ligation-dependent probe amplification (MLPA) is a new molecular genetic technique in prenatal diagnosis. Previous preclinical evidence suggests equivalence of MLPA and traditional karyotyping (TKT) regarding test performance. METHODS/DESIGN: The proposed study is a multicentre diagnostic substitute study among pregnant women, who choose to have amniocentesis for the indication advanced maternal age and/or increased risk following prenatal screening test. In all subjects, both MLPA and karyotyping will be performed on the amniotic fluid sample. The primary outcome is diagnostic accuracy. Secondary outcomes will be maternal quality of life, women's preferences and costs. Analysis will be intention to treat and per protocol analysis. Quality of life analysis will be carried out within the study population. The study aims to include 4500 women. DISCUSSION: The study results are expected to help decide whether MLPA can replace traditional karyotyping for 'low-risk' pregnancies in terms of diagnostic accuracy, quality of life and women's preferences. This will be the first clinical study to report on all relevant aspects of the potential replacement.
Published: 2008
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22 results on '"Go, A.T.J.I. (Attie)"'

1. Growth trajectories of the human fetal brain in healthy and complicated pregnancies and associations with neurodevelopmental outcome in the early life course

2. Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast

3. The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

4. First trimester anomaly scan using virtual reality (VR FETUS study): study protocol for a randomized clinical trial

5. Implementing non-invasive prenatal testing (NIPT) in the Netherlands: An interview study exploring opinions about and experiences with societal pressure, reimbursement, and an expanding scope

6. Social and medical need for whole genome high resolution NIPT

7. Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?

8. Termination of pregnancy for fetal anomalies: Parents' preferences for psychosocial care

9. Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype

10. Three-dimensional ultrasound imaging of fetal brain fissures in the growth restricted fetus

11. Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

12. Choosing between Higher and Lower Resolution Microarrays

13. Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases

14. Enlarged NT (≥3.5 mm) in the first trimester - Not all chromosome aberrations can be detected by NIPT

15. Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: Causative, unexpected and susceptibility CNVs

16. Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I—clinical impact

17. False negative NIPT results: Risk figures for chromosomes 13,18 and 21 based on chorionic villi results in 5967 cases and literature review

18. The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

19. New genetic loci link adipose and insulin biology to body fat distribution

20. RANTES/CCL5 and risk for coronary events: Results from the MONICA/KORA Augsburg case-cohort, Athero-express and CARDIoGRAM studies

21. Long-term neurodevelopmental outcome of monochorionic and matched dichorionic twins

22. Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study

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