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

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

doi:10.1002/pd.4945

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

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

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Pages (from-to)	1083–1090
Journal	Prenatal Diagnosis
Volume	36
Issue number	12
DOIs	https://doi.org/10.1002/pd.4945
Publication status	Published - 2016

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Oepkes, D., Page-Christiaens, L. C., Bax, C. J., Bekker, M. N., Bilardo, C. M., Boon, E. M. J., Schuring-Blom, G. H., Coumans, A. B. C., Faas, B. H., Galjaard, R.-J. H., Go, A. T., Henneman, L., Macville, M. V. E., Pajkrt, E., Suijkerbuijk, R. F., Huijsdens-vanAmsterdam, K., Van Opstal, D., Verweij, E. J. J., Weiss, M. M. (2016). Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part I - Clinical Impact. Prenatal Diagnosis, 36(12), 1083–1090. https://doi.org/10.1002/pd.4945

@article{e70ba67112654e53ac7d79ab920607b2,

title = "Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part I - Clinical Impact",

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.",

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

year = "2016",

doi = "10.1002/pd.4945",

language = "English",

volume = "36",

pages = "1083–1090",

journal = "Prenatal Diagnosis",

issn = "0197-3851",

publisher = "John Wiley & Sons Inc.",

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Oepkes, D, Page-Christiaens, LC, Bax, CJ, Bekker, MN, Bilardo, CM, Boon, EMJ, Schuring-Blom, GH, Coumans, ABC, Faas, BH, Galjaard, R-JH, Go, AT, Henneman, L, Macville, MVE, Pajkrt, E, Suijkerbuijk, RF, Huijsdens-vanAmsterdam, K, Van Opstal, D, Verweij, EJJ, Weiss, MM, Sistermans, EA 2016, 'Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part I - Clinical Impact', Prenatal Diagnosis, vol. 36, no. 12, pp. 1083–1090. https://doi.org/10.1002/pd.4945

TY - JOUR

T1 - Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part I - Clinical Impact

AU - Oepkes, Dick

AU - Page-Christiaens, Lieve C

AU - Bax, Caroline J

AU - Bekker, Mireille N

AU - Bilardo, Catia M

AU - Boon, Elles M J

AU - Schuring-Blom, G Heleen

AU - Coumans, Audrey B C

AU - Faas, Brigitte H

AU - Galjaard, Robert-Jan H

AU - Go, Attie T

AU - Henneman, Lidewij

AU - Macville, Merryn V E

AU - Pajkrt, Eva

AU - Suijkerbuijk, Ron F

AU - Huijsdens-vanAmsterdam, Karin

AU - Van Opstal, Diane

AU - Verweij, E J Joanne

AU - Weiss, Marjan M

AU - Sistermans, Erik A

PY - 2016

Y1 - 2016

N2 - 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.

AB - 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.

U2 - 10.1002/pd.4945

DO - 10.1002/pd.4945

M3 - Article

C2 - 27750376

SN - 0197-3851

VL - 36

SP - 1083

EP - 1090

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

IS - 12

ER -

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

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