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2. Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families

Author

Kerstjens-Frederikse, Wilhelmina S., van de Laar, Ingrid M.B.H., Vos, Yvonne J., Verhagen, Judith M.A., Berger, Rolf M.F., Lichtenbelt, Klaske D., Klein Wassink-Ruiter, Jolien S., van der Zwaag, Paul A., du Marchie Sarvaas, Gideon J., Bergman, Klasien A., Bilardo, Catia M., Roos-Hesselink, Jolien W., Janssen, Johan H.P., Frohn-Mulder, Ingrid M., van Spaendonck-Zwarts, Karin Y., van Melle, Joost P., Hofstra, Robert M.W., and Wessels, M.W.

Published
2016
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7. Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy

Author

Fontanella, Federica, Duin, Leonie, Adama Van Scheltema, Phebe N., Cohen-Overbeek, Titia E., Pajkrt, Eva, Bekker, Mireille, Willekes, Christine, Bax, Caroline J., Oepkes, Dick, Bilardo, Catia M., Fontanella, Federica, Duin, Leonie, Adama Van Scheltema, Phebe N., Cohen-Overbeek, Titia E., Pajkrt, Eva, Bekker, Mireille, Willekes, Christine, Bax, Caroline J., Oepkes, Dick, and Bilardo, Catia M.

Published
2019

8. Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy

Author

MS Verloskunde, Child Health, Fontanella, Federica, Duin, Leonie, Adama Van Scheltema, Phebe N., Cohen-Overbeek, Titia E., Pajkrt, Eva, Bekker, Mireille, Willekes, Christine, Bax, Caroline J., Oepkes, Dick, Bilardo, Catia M., MS Verloskunde, Child Health, Fontanella, Federica, Duin, Leonie, Adama Van Scheltema, Phebe N., Cohen-Overbeek, Titia E., Pajkrt, Eva, Bekker, Mireille, Willekes, Christine, Bax, Caroline J., Oepkes, Dick, and Bilardo, Catia M.

Published
2019

10. Cardiovascular biochemical risk factors among women with spontaneous preterm delivery

Author

Arts-assistenten DV&B, MS Verloskunde, Brain, Child Health, Circulatory Health, Cardiologie, Team Medisch, Heida, Karst Y., Kampman, Marlies A., Franx, Arie, De Laat, Monique W., Mulder, Barbara J., Van der Post, Joris A., Bilardo, Catia M., Pieper, Petronella G., Sollie, Krystyna M., Sieswerda, Gertjan T., Ris-Stalpers, Carrie, Oudijk, Martijn A., Arts-assistenten DV&B, MS Verloskunde, Brain, Child Health, Circulatory Health, Cardiologie, Team Medisch, Heida, Karst Y., Kampman, Marlies A., Franx, Arie, De Laat, Monique W., Mulder, Barbara J., Van der Post, Joris A., Bilardo, Catia M., Pieper, Petronella G., Sollie, Krystyna M., Sieswerda, Gertjan T., Ris-Stalpers, Carrie, and Oudijk, Martijn A.

Published
2018

11. Cardiovascular biochemical risk factors among women with spontaneous preterm delivery

Author

Heida, Karst Y., primary, Kampman, Marlies A., additional, Franx, Arie, additional, De Laat, Monique W., additional, Mulder, Barbara J., additional, Van der Post, Joris A., additional, Bilardo, Catia M., additional, Pieper, Petronella G., additional, Sollie, Krystyna M., additional, Sieswerda, Gertjan T., additional, Ris-Stalpers, Carrie, additional, and Oudijk, Martijn A., additional

Published
2018
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12. Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part I - Clinical Impact

Author

Oepkes, Dick, Page-Christiaens, Lieve C, Bax, Caroline J, Bekker, Mireille N, Bilardo, Catia M, Boon, Elles M J, Schuring-Blom, G Heleen, Coumans, Audrey B C, Faas, Brigitte H, Galjaard, Robert-Jan H, Go, Attie T, Henneman, Lidewij, Macville, Merryn V E, Pajkrt, Eva, Suijkerbuijk, Ron F, Huijsdens-vanAmsterdam, Karin, Van Opstal, Diane, Verweij, E J Joanne, Weiss, Marjan M, Sistermans, Erik A, and Dutch NIPT Consortium

Subjects
Journal Article
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. 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 April 1st and September 1st, 2014, 1413/23232 (6%) women received a high-risk FCT result. Of these, 1211 (85.7%) chose NIPT. 179 women had NIPT based on medical history. 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.

Published
2016

13. Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part II - Women's Perspectives

Author

van Schendel, Rachel V, Page-Christiaens, Lieve, Beulen, Lean, Bilardo, Catia M, de Boer, Marjon A, Coumans, Audrey B C, Faas, Brigitte H, van Langen, Irene M, Lichtenbelt, Klaske D, van Maarle, Merel C, Macville, Merryn V E, Oepkes, Dick, Pajkrt, Eva, Henneman, Lidewij, Dutch NIPT Consortium, van Schendel, Rachel V, Page-Christiaens, Lieve, Beulen, Lean, Bilardo, Catia M, de Boer, Marjon A, Coumans, Audrey B C, Faas, Brigitte H, van Langen, Irene M, Lichtenbelt, Klaske D, van Maarle, Merel C, Macville, Merryn V E, Oepkes, Dick, Pajkrt, Eva, Henneman, Lidewij, and Dutch NIPT Consortium

Published
2016

14. Cardiovascular malformations caused by NOTCH1 mutations do not keep left : data on 428 probands with left-sided CHD and their families

Author

Kerstjens-Frederikse, Wilhelmina S, van de Laar, Ingrid M B H, Vos, Yvonne J, Verhagen, Judith M A, Berger, Rolf M F, Lichtenbelt, Klaske D, Klein Wassink-Ruiter, Jolien S, van der Zwaag, Paul A, du Marchie Sarvaas, Gideon J, Bergman, Klasien A, Bilardo, Catia M, Roos-Hesselink, Jolien W, Janssen, Johan H P, Frohn-Mulder, Ingrid M, van Spaendonck-Zwarts, Karin Y, van Melle, Joost P, Hofstra, Robert M W, Wessels, M W, Kerstjens-Frederikse, Wilhelmina S, van de Laar, Ingrid M B H, Vos, Yvonne J, Verhagen, Judith M A, Berger, Rolf M F, Lichtenbelt, Klaske D, Klein Wassink-Ruiter, Jolien S, van der Zwaag, Paul A, du Marchie Sarvaas, Gideon J, Bergman, Klasien A, Bilardo, Catia M, Roos-Hesselink, Jolien W, Janssen, Johan H P, Frohn-Mulder, Ingrid M, van Spaendonck-Zwarts, Karin Y, van Melle, Joost P, Hofstra, Robert M W, and Wessels, M W

Published
2016

15. Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part II - Women's Perspectives

Author

MS Verloskunde, Other research (not in main researchprogram), Genetica Klinische Genetica, Child Health, van Schendel, Rachel V, Page-Christiaens, Lieve, Beulen, Lean, Bilardo, Catia M, de Boer, Marjon A, Coumans, Audrey B C, Faas, Brigitte H, van Langen, Irene M, Lichtenbelt, Klaske D, van Maarle, Merel C, Macville, Merryn V E, Oepkes, Dick, Pajkrt, Eva, Henneman, Lidewij, Dutch NIPT Consortium, MS Verloskunde, Other research (not in main researchprogram), Genetica Klinische Genetica, Child Health, van Schendel, Rachel V, Page-Christiaens, Lieve, Beulen, Lean, Bilardo, Catia M, de Boer, Marjon A, Coumans, Audrey B C, Faas, Brigitte H, van Langen, Irene M, Lichtenbelt, Klaske D, van Maarle, Merel C, Macville, Merryn V E, Oepkes, Dick, Pajkrt, Eva, Henneman, Lidewij, and Dutch NIPT Consortium

Published
2016

16. Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families

Author

Genetica Klinische Genetica, Child Health, Kerstjens-Frederikse, Wilhelmina S, van de Laar, Ingrid M B H, Vos, Yvonne J, Verhagen, Judith M A, Berger, Rolf M F, Lichtenbelt, Klaske D, Klein Wassink-Ruiter, Jolien S, van der Zwaag, Paul A, du Marchie Sarvaas, Gideon J, Bergman, Klasien A, Bilardo, Catia M, Roos-Hesselink, Jolien W, Janssen, Johan H P, Frohn-Mulder, Ingrid M, van Spaendonck-Zwarts, Karin Y, van Melle, Joost P, Hofstra, Robert M W, Wessels, M W, Genetica Klinische Genetica, Child Health, Kerstjens-Frederikse, Wilhelmina S, van de Laar, Ingrid M B H, Vos, Yvonne J, Verhagen, Judith M A, Berger, Rolf M F, Lichtenbelt, Klaske D, Klein Wassink-Ruiter, Jolien S, van der Zwaag, Paul A, du Marchie Sarvaas, Gideon J, Bergman, Klasien A, Bilardo, Catia M, Roos-Hesselink, Jolien W, Janssen, Johan H P, Frohn-Mulder, Ingrid M, van Spaendonck-Zwarts, Karin Y, van Melle, Joost P, Hofstra, Robert M W, and Wessels, M W

Published
2016

17. Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part I - Clinical Impact

Author

MS Verloskunde, Other research (not in main researchprogram), Child Health, Genetica Sectie Genoomdiagnostiek, Cancer, Oepkes, Dick, Page-Christiaens, Lieve C, Bax, Caroline J, Bekker, Mireille N, Bilardo, Catia M, Boon, Elles M J, Schuring-Blom, G Heleen, Coumans, Audrey B C, Faas, Brigitte H, Galjaard, Robert-Jan H, Go, Attie T, Henneman, Lidewij, Macville, Merryn V E, Pajkrt, Eva, Suijkerbuijk, Ron F, Huijsdens-vanAmsterdam, Karin, Van Opstal, Diane, Verweij, E J Joanne, Weiss, Marjan M, Sistermans, Erik A, Dutch NIPT Consortium, MS Verloskunde, Other research (not in main researchprogram), Child Health, Genetica Sectie Genoomdiagnostiek, Cancer, Oepkes, Dick, Page-Christiaens, Lieve C, Bax, Caroline J, Bekker, Mireille N, Bilardo, Catia M, Boon, Elles M J, Schuring-Blom, G Heleen, Coumans, Audrey B C, Faas, Brigitte H, Galjaard, Robert-Jan H, Go, Attie T, Henneman, Lidewij, Macville, Merryn V E, Pajkrt, Eva, Suijkerbuijk, Ron F, Huijsdens-vanAmsterdam, Karin, Van Opstal, Diane, Verweij, E J Joanne, Weiss, Marjan M, Sistermans, Erik A, and Dutch NIPT Consortium

Published
2016

18. NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results

Author

Sikkema-Raddatz, Birgit, primary, Johansson, Lennart F., additional, de Boer, Eddy N., additional, Boon, Elles M. J., additional, Suijkerbuijk, Ron F., additional, Bouman, Katelijne, additional, Bilardo, Catia M., additional, Swertz, Morris A., additional, Dijkstra, Martijn, additional, van Langen, Irene M., additional, Sinke, Richard J., additional, and te Meerman, Gerard J., additional

Published
2016
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19. Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part II-women's perspectives.

Author

Schendel, Rachèl V., Page‐Christiaens, G. C. (Lieve), Beulen, Lean, Bilardo, Catia M., Boer, Marjon A., Coumans, Audrey B. C., Faas, Brigitte H., Langen, Irene M., Lichtenbelt, Klaske D., Maarle, Merel C., Macville, Merryn V. E., Oepkes, Dick, Pajkrt, Eva, Henneman, Lidewij, van Schendel, Rachèl V, Page-Christiaens, G C Lieve, de Boer, Marjon A, van Langen, Irene M, van Maarle, Merel C, and Dutch NIPT Consortium

Subjects
CHROMOSOME abnormalities, DIAGNOSIS of Down syndrome, ANXIETY, CHROMOSOMES, CLINICAL trials, CONFLICT (Psychology), DECISION making, DIAGNOSTIC errors, DNA, HEALTH attitudes, LONGITUDINAL method, FIRST trimester of pregnancy, QUESTIONNAIRES, TIME, INFORMATION literacy, EDUCATIONAL attainment, SEQUENCE analysis, MULTIDIMENSIONAL Health Locus of Control scales, DIAGNOSIS
Abstract

Objective: To evaluate preferences and decision-making among high-risk pregnant women offered a choice between Non-Invasive Prenatal Testing (NIPT), invasive testing or no further testing.Methods: Nationwide implementation study (TRIDENT) offering NIPT as contingent screening test for women at increased risk for fetal aneuploidy based on first-trimester combined testing (>1:200) or medical history. A questionnaire was completed after counseling assessing knowledge, attitudes and participation following the Multidimensional Measure of Informed Choice.Results: A total of 1091/1253 (87%) women completed the questionnaire. Of these, 1053 (96.5%) underwent NIPT, 37 (3.4%) invasive testing and 1 (0.1%) declined testing. 91.7% preferred NIPT because of test safety. Overall, 77.9% made an informed choice, 89.8% had sufficient knowledge and 90.5% had positive attitudes towards NIPT. Women with intermediate (odds ratio (OR) = 3.51[1.70-7.22], p < 0.001) or high educational level (OR = 4.36[2.22-8.54], p < 0.001) and women with adequate health literacy (OR = 2.60[1.36-4.95], p = 0.004) were more likely to make an informed choice. Informed choice was associated with less decisional conflict and less anxiety (p < 0.001). Intention to terminate the pregnancy for Down syndrome was higher among women undergoing invasive testing (86.5%) compared to those undergoing NIPT (58.4%) (p < 0.001).Conclusions: The majority of women had sufficient knowledge and made an informed choice. Continuous attention for counseling is required, especially for low-educated and less health-literate women. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Published
2016
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22. Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact.

Author

Oepkes D, Page-Christiaens GC, Bax CJ, Bekker MN, Bilardo CM, Boon EM, Schuring-Blom GH, Coumans AB, Faas BH, Galjaard RH, Go AT, Henneman L, Macville MV, Pajkrt E, Suijkerbuijk RF, Huijsdens-van Amsterdam K, Van Opstal D, Verweij EJ, Weiss MM, and Sistermans EA

Subjects
Adult, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 18, Down Syndrome diagnosis, False Negative Reactions, False Positive Reactions, Female, Follow-Up Studies, High-Throughput Nucleotide Sequencing, Humans, Netherlands, Nuchal Translucency Measurement, Pregnancy, Pregnancy Trimester, First, Time Factors, Trisomy diagnosis, Trisomy 13 Syndrome, Trisomy 18 Syndrome, Ultrasonography, Prenatal, Chromosome Disorders diagnosis, DNA blood, Sequence Analysis, DNA methods
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., (© 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.)

Published
2016
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23. Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part II-women's perspectives.

Author

van Schendel RV, Page-Christiaens GC, Beulen L, Bilardo CM, de Boer MA, Coumans AB, Faas BH, van Langen IM, Lichtenbelt KD, van Maarle MC, Macville MV, Oepkes D, Pajkrt E, and Henneman L

Subjects
Adult, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 18, Down Syndrome diagnosis, Educational Status, False Positive Reactions, Female, Follow-Up Studies, Humans, Middle Aged, Netherlands, Pregnancy, Pregnancy Trimester, First, Surveys and Questionnaires, Time Factors, Trisomy diagnosis, Trisomy 13 Syndrome, Trisomy 18 Syndrome, Young Adult, Anxiety psychology, Attitude to Health, Chromosome Disorders diagnosis, Conflict, Psychological, DNA blood, Decision Making, Health Literacy, Sequence Analysis, DNA methods
Abstract

Objective: To evaluate preferences and decision-making among high-risk pregnant women offered a choice between Non-Invasive Prenatal Testing (NIPT), invasive testing or no further testing., Methods: Nationwide implementation study (TRIDENT) offering NIPT as contingent screening test for women at increased risk for fetal aneuploidy based on first-trimester combined testing (>1:200) or medical history. A questionnaire was completed after counseling assessing knowledge, attitudes and participation following the Multidimensional Measure of Informed Choice., Results: A total of 1091/1253 (87%) women completed the questionnaire. Of these, 1053 (96.5%) underwent NIPT, 37 (3.4%) invasive testing and 1 (0.1%) declined testing. 91.7% preferred NIPT because of test safety. Overall, 77.9% made an informed choice, 89.8% had sufficient knowledge and 90.5% had positive attitudes towards NIPT. Women with intermediate (odds ratio (OR) = 3.51[1.70-7.22], p < 0.001) or high educational level (OR = 4.36[2.22-8.54], p < 0.001) and women with adequate health literacy (OR = 2.60[1.36-4.95], p = 0.004) were more likely to make an informed choice. Informed choice was associated with less decisional conflict and less anxiety (p < 0.001). Intention to terminate the pregnancy for Down syndrome was higher among women undergoing invasive testing (86.5%) compared to those undergoing NIPT (58.4%) (p < 0.001)., Conclusions: The majority of women had sufficient knowledge and made an informed choice. Continuous attention for counseling is required, especially for low-educated and less health-literate women. © 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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