Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

Dutch NIPT Consortium; Lisanne van Prooyen Schuurman; Erik A. Sistermans; Diane Van Opstal; Lidewij Henneman; Mireille N. Bekker; Caroline J. Bax; Mijntje J. Pieters; Katelijne Bouman; Sonja de Munnik; Nicolette S. den Hollander; Karin E. M. Diderich; Brigitte H. W. Faas; Ilse Feenstra; Attie T. J. Go; Mariette J. Hoffer; Marieke Joosten; Fenne L. Komdeur; Klaske D. Lichtenbelt; Maria P. Lombardi; Marike G. Polak; Fernanda S. Jehee; Heleen Schuring-Blom; Servi J. C. Stevens; Malgorzata Srebniak; Ron F. Suijkerbuijk; Gita M. Tan-Sindhunata; Karuna R. M. van der Meij; Merel C. van Maarle; Vivian Vernimmen; Shama L. Van Zelderen-Bhola; Nicolien T. van Ravesteyn; Maarten F. C. M. Knapen; Merryn V. E. Macville; Robert-Jan H. Galjaard

doi:10.1016/j.ajhg.2022.04.018

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

Dutch NIPT Consortium
, Lisanne van Prooyen Schuurman
, Erik A. Sistermans
, Diane Van Opstal
, Lidewij Henneman
, Mireille N. Bekker
, Caroline J. Bax
, Mijntje J. Pieters
, Katelijne Bouman
, Sonja de Munnik
, Nicolette S. den Hollander
, Karin E. M. Diderich
, Brigitte H. W. Faas
, Ilse Feenstra
, Attie T. J. Go
, Mariette J. Hoffer
, Marieke Joosten
, Fenne L. Komdeur
, Klaske D. Lichtenbelt
, Maria P. Lombardi

Marike G. Polak, Fernanda S. Jehee, Heleen Schuring-Blom, Servi J. C. Stevens, Malgorzata Srebniak, Ron F. Suijkerbuijk, Gita M. Tan-Sindhunata, Karuna R. M. van der Meij, Merel C. van Maarle, Vivian Vernimmen, Shama L. Van Zelderen-Bhola, Nicolien T. van Ravesteyn, Maarten F. C. M. Knapen, Merryn V. E. Macville, Robert-Jan H. Galjaard^*

^*Corresponding author for this work

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

75 Citations (Scopus)

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Abstract

In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or screening solely for common trisomies. Previous data showed that GW-NIPT can reliably detect common trisomies in the general obstetric population and that this test can also detect other chromosomal abnormalities (additional findings). However, evidence regarding the clinical impact of screening for additional findings is lacking. Therefore, we present follow-up results of the TRIDENT-2 study to determine this clinical impact based on the laboratory and perinatal outcomes of cases with additional findings. Between April 2017 and April 2019, additional findings were detected in 402/110,739 pregnancies (0.36%). For 358 cases, the origin was proven to be either fetal (n = 79; 22.1%), (assumed) confined placental mosaicism (CPM) (n = 189; 52.8%), or maternal (n = 90; 25.1%). For the remaining 44 (10.9%), the origin of the aberration could not be determined. Most fetal chromosomal aberrations were pathogenic and associated with severe clinical phenotypes (61/79; 77.2%). For CPM cases, occurrence of pre-eclampsia (8.5% [16/189] vs 0.5% [754/159,924]; RR 18.5), and birth weight

Original language	English
Pages (from-to)	1140-1152
Number of pages	14
Journal	American Journal of Human Genetics
Volume	109
Issue number	6
DOIs	https://doi.org/10.1016/j.ajhg.2022.04.018
Publication status	Published - 2-Jun-2022

Keywords

CELL-FREE DNA
PREECLAMPSIA

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Erratum: Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study (The American Journal of Human Genetics (2022) 109(6) (1140–1152), (S0002929722002051), (10.1016/j.ajhg.2022.04.018))
The Dutch NIPT Consortium, van Prooyen Schuurman, L., Sistermans, E. A., Van Opstal, D., Henneman, L., Bekker, M. N., Bax, C. J., Pieters, M. J., Bouman, K., de Munnik, S., den Hollander, N. S., Diderich, K. E. M., Faas, B. H. W., Feenstra, I., Go, A. T. J. I., Hoffer, M. J. V., Joosten, M., Komdeur, F. L., Lichtenbelt, K. D. & Lombardi, M. P. & 15 others, Polak, M. G., Jehee, F. S., Schuring-Blom, H., Stevens, S. J. C., Srebniak, M. I., Suijkerbuijk, R. F., Tan-Sindhunata, G. M., van der Meij, K. R. M., van Maarle, M. C., Vernimmen, V., van Zelderen-Bhola, S. L., van Ravesteyn, N. T., Knapen, M. F. C. M., Macville, M. V. E. & Galjaard, R. J. H., 7-Jul-2022, In: American Journal of Human Genetics. 109, 7, p. 1344 1 p.
Research output: Contribution to journal › Erratum

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10 Citations (Scopus)

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Dutch NIPT Consortium, Schuurman, L. V. P., Sistermans, E. A., Van Opstal, D., Henneman, L., Bekker, M. N., Bax, C. J., Pieters, M. J., Bouman, K., de Munnik, S., den Hollander, N. S., Diderich, K. E. M., Faas, B. H. W., Feenstra, I., Go, A. T. J., Hoffer, M. J., Joosten, M., Komdeur, F. L., Lichtenbelt, K. D., ... Galjaard, R.-J. H. (2022). Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study. American Journal of Human Genetics, 109(6), 1140-1152. https://doi.org/10.1016/j.ajhg.2022.04.018

@article{1f7f99c14165402e818328efc49dec6a,

title = "Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study",

abstract = "In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or screening solely for common trisomies. Previous data showed that GW-NIPT can reliably detect common trisomies in the general obstetric population and that this test can also detect other chromosomal abnormalities (additional findings). However, evidence regarding the clinical impact of screening for additional findings is lacking. Therefore, we present follow-up results of the TRIDENT-2 study to determine this clinical impact based on the laboratory and perinatal outcomes of cases with additional findings. Between April 2017 and April 2019, additional findings were detected in 402/110,739 pregnancies (0.36\%). For 358 cases, the origin was proven to be either fetal (n = 79; 22.1\%), (assumed) confined placental mosaicism (CPM) (n = 189; 52.8\%), or maternal (n = 90; 25.1\%). For the remaining 44 (10.9\%), the origin of the aberration could not be determined. Most fetal chromosomal aberrations were pathogenic and associated with severe clinical phenotypes (61/79; 77.2\%). For CPM cases, occurrence of pre-eclampsia (8.5\% [16/189] vs 0.5\% [754/159,924]; RR 18.5), and birth weight",

keywords = "CELL-FREE DNA, PREECLAMPSIA",

author = "\{Dutch NIPT Consortium\} and Schuurman, \{Lisanne van Prooyen\} and Sistermans, \{Erik A.\} and \{Van Opstal\}, Diane and Lidewij Henneman and Bekker, \{Mireille N.\} and Bax, \{Caroline J.\} and Pieters, \{Mijntje J.\} and Katelijne Bouman and \{de Munnik\}, Sonja and \{den Hollander\}, \{Nicolette S.\} and Diderich, \{Karin E. M.\} and Faas, \{Brigitte H. W.\} and Ilse Feenstra and Go, \{Attie T. J.\} and Hoffer, \{Mariette J.\} and Marieke Joosten and Komdeur, \{Fenne L.\} and Lichtenbelt, \{Klaske D.\} and Lombardi, \{Maria P.\} and Polak, \{Marike G.\} and Jehee, \{Fernanda S.\} and Heleen Schuring-Blom and Stevens, \{Servi J. C.\} and Malgorzata Srebniak and Suijkerbuijk, \{Ron F.\} and Tan-Sindhunata, \{Gita M.\} and \{van der Meij\}, \{Karuna R. M.\} and \{van Maarle\}, \{Merel C.\} and Vivian Vernimmen and \{Van Zelderen-Bhola\}, \{Shama L.\} and \{van Ravesteyn\}, \{Nicolien T.\} and Knapen, \{Maarten F. C. M.\} and Macville, \{Merryn V. E.\} and Galjaard, \{Robert-Jan H.\}",

year = "2022",

month = jun,

day = "2",

doi = "10.1016/j.ajhg.2022.04.018",

language = "English",

volume = "109",

pages = "1140--1152",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "6",

}

Dutch NIPT Consortium, Schuurman, LVP, Sistermans, EA, Van Opstal, D, Henneman, L, Bekker, MN, Bax, CJ, Pieters, MJ, Bouman, K, de Munnik, S, den Hollander, NS, Diderich, KEM, Faas, BHW, Feenstra, I, Go, ATJ, Hoffer, MJ, Joosten, M, Komdeur, FL, Lichtenbelt, KD, Lombardi, MP, Polak, MG, Jehee, FS, Schuring-Blom, H, Stevens, SJC, Srebniak, M, Suijkerbuijk, RF, Tan-Sindhunata, GM, van der Meij, KRM, van Maarle, MC, Vernimmen, V, Van Zelderen-Bhola, SL, van Ravesteyn, NT, Knapen, MFCM, Macville, MVE & Galjaard, R-JH 2022, 'Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study', American Journal of Human Genetics, vol. 109, no. 6, pp. 1140-1152. https://doi.org/10.1016/j.ajhg.2022.04.018

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study. / Dutch NIPT Consortium; Schuurman, Lisanne van Prooyen; Sistermans, Erik A. et al.
In: American Journal of Human Genetics, Vol. 109, No. 6, 02.06.2022, p. 1140-1152.

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

TY - JOUR

T1 - Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing

T2 - Follow-up results of the TRIDENT-2 study

AU - Dutch NIPT Consortium

AU - Schuurman, Lisanne van Prooyen

AU - Sistermans, Erik A.

AU - Van Opstal, Diane

AU - Henneman, Lidewij

AU - Bekker, Mireille N.

AU - Bax, Caroline J.

AU - Pieters, Mijntje J.

AU - Bouman, Katelijne

AU - de Munnik, Sonja

AU - den Hollander, Nicolette S.

AU - Diderich, Karin E. M.

AU - Faas, Brigitte H. W.

AU - Feenstra, Ilse

AU - Go, Attie T. J.

AU - Hoffer, Mariette J.

AU - Joosten, Marieke

AU - Komdeur, Fenne L.

AU - Lichtenbelt, Klaske D.

AU - Lombardi, Maria P.

AU - Polak, Marike G.

AU - Jehee, Fernanda S.

AU - Schuring-Blom, Heleen

AU - Stevens, Servi J. C.

AU - Srebniak, Malgorzata

AU - Suijkerbuijk, Ron F.

AU - Tan-Sindhunata, Gita M.

AU - van der Meij, Karuna R. M.

AU - van Maarle, Merel C.

AU - Vernimmen, Vivian

AU - Van Zelderen-Bhola, Shama L.

AU - van Ravesteyn, Nicolien T.

AU - Knapen, Maarten F. C. M.

AU - Macville, Merryn V. E.

AU - Galjaard, Robert-Jan H.

PY - 2022/6/2

Y1 - 2022/6/2

N2 - In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or screening solely for common trisomies. Previous data showed that GW-NIPT can reliably detect common trisomies in the general obstetric population and that this test can also detect other chromosomal abnormalities (additional findings). However, evidence regarding the clinical impact of screening for additional findings is lacking. Therefore, we present follow-up results of the TRIDENT-2 study to determine this clinical impact based on the laboratory and perinatal outcomes of cases with additional findings. Between April 2017 and April 2019, additional findings were detected in 402/110,739 pregnancies (0.36%). For 358 cases, the origin was proven to be either fetal (n = 79; 22.1%), (assumed) confined placental mosaicism (CPM) (n = 189; 52.8%), or maternal (n = 90; 25.1%). For the remaining 44 (10.9%), the origin of the aberration could not be determined. Most fetal chromosomal aberrations were pathogenic and associated with severe clinical phenotypes (61/79; 77.2%). For CPM cases, occurrence of pre-eclampsia (8.5% [16/189] vs 0.5% [754/159,924]; RR 18.5), and birth weight

AB - In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or screening solely for common trisomies. Previous data showed that GW-NIPT can reliably detect common trisomies in the general obstetric population and that this test can also detect other chromosomal abnormalities (additional findings). However, evidence regarding the clinical impact of screening for additional findings is lacking. Therefore, we present follow-up results of the TRIDENT-2 study to determine this clinical impact based on the laboratory and perinatal outcomes of cases with additional findings. Between April 2017 and April 2019, additional findings were detected in 402/110,739 pregnancies (0.36%). For 358 cases, the origin was proven to be either fetal (n = 79; 22.1%), (assumed) confined placental mosaicism (CPM) (n = 189; 52.8%), or maternal (n = 90; 25.1%). For the remaining 44 (10.9%), the origin of the aberration could not be determined. Most fetal chromosomal aberrations were pathogenic and associated with severe clinical phenotypes (61/79; 77.2%). For CPM cases, occurrence of pre-eclampsia (8.5% [16/189] vs 0.5% [754/159,924]; RR 18.5), and birth weight

KW - CELL-FREE DNA

KW - PREECLAMPSIA

U2 - 10.1016/j.ajhg.2022.04.018

DO - 10.1016/j.ajhg.2022.04.018

M3 - Article

SN - 0002-9297

VL - 109

SP - 1140

EP - 1152

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 6

ER -

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

Abstract

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Erratum: Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study (The American Journal of Human Genetics (2022) 109(6) (1140–1152), (S0002929722002051), (10.1016/j.ajhg.2022.04.018))

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