Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations

Margot van Riel; Nathalie Brison; Machteld Baetens; Bettina Blaumeiser; François Boemer; Laura Bourlard; Saskia Bulk; Anne De Leener; Julie Désir; Koenraad Devriendt; Annelies Dheedene; Armelle Duquenne; Nathalie Fieremans; Annelies Fieuw; Jean-Stéphane Gatot; Bernard Grisart; Sandra Janssens; Naïri Khudashvili; Lore Lannoo; Axel Marichal; Colombine Meunier; Leonor Palmeira; Ilse Parijs; Bruno Pichon; Ellen Roets; Eva Sammels; Guillaume Smits; Marion Suenaert; Yves Sznajer; Kris Van den Bogaert; Leen Vancoillie; Lotte Vandeputte; Elise Vantroys; Joris Robert Vermeesch; K Janssens

doi:10.1097/AOG.0000000000004385

Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations

Margot van Riel, Nathalie Brison, Machteld Baetens, Bettina Blaumeiser, François Boemer, Laura Bourlard, Saskia Bulk, Anne De Leener, Julie Désir, Koenraad Devriendt, Annelies Dheedene, Armelle Duquenne, Nathalie Fieremans, Annelies Fieuw, Jean-Stéphane Gatot, Bernard Grisart, Sandra Janssens, Naïri Khudashvili, Lore Lannoo, Axel MarichalColombine Meunier, Leonor Palmeira, Ilse Parijs, Bruno Pichon, Ellen Roets, Eva Sammels, Guillaume Smits, Marion Suenaert, Yves Sznajer, Kris Van den Bogaert, Leen Vancoillie, Lotte Vandeputte, Elise Vantroys, Joris Robert Vermeesch, K Janssens

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Abstract

OBJECTIVE: To evaluate the accuracy and diagnostic value of genome-wide noninvasive prenatal testing (NIPT) for the detection of fetal aneuploidies in multiple gestations, with a focus on dichorionic-diamniotic twin pregnancies.

METHODS: We performed a retrospective cohort study including data from pregnant women with a twin or higher-order gestation who underwent genome-wide NIPT at one of the eight Belgian genetic centers between November 1, 2013, and March 1, 2020. Chorionicity and amnionicity were determined by ultrasonography. Follow-up invasive testing was carried out in the event of positive NIPT results. Sensitivity and specificity were calculated for the detection of trisomy 21, 18, and 13 in the dichorionic-diamniotic twin cohort.

RESULTS: Unique NIPT analyses were performed for 4,150 pregnant women with a multiple gestation and an additional 767 with vanishing gestations. The failure rate in multiple gestations excluding vanishing gestations ranged from 0% to 11.7% among the different genetic centers. Overall, the failure rate was 4.8%, which could be reduced to 1.2% after single resampling. There were no common fetal trisomies detected among the 86 monochorionic-monoamniotic and 25 triplet cases. Two monochorionic-diamniotic twins had an NIPT result indicative of a trisomy 21, which was confirmed in both fetuses. Among 2,716 dichorionic-diamniotic twin gestations, a sensitivity of 100% (95% CI 74.12-100%) and a specificity of 100% (95% CI 99.86-100%) was reached for trisomy 21 (n=12). For trisomy 18 (n=3), the respective values were 75% (95% CI 30.06-95.44%) sensitivity and 100% (95% CI 99.86-100%) specificity, and for trisomy 13 (n=2), 100% (95% CI 20.65-100%) sensitivity and 99.96% (95% CI 99.79-99.99%) specificity. In the vanishing gestation group, 28 NIPT results were positive for trisomy 21, 18, or 13, with only five confirmed trisomies.

CONCLUSION: Genome-wide NIPT performed accurately for detection of aneuploidy in dichorionic-diamniotic twin gestations.

Original language	English
Pages (from-to)	1102-1108
Number of pages	7
Journal	Obstetrics & Gynecology
Volume	137
Issue number	6
Early online date	2021
DOIs	https://doi.org/10.1097/AOG.0000000000004385
Publication status	Published - 1 Jun 2021

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van Riel, M., Brison, N., Baetens, M., Blaumeiser, B., Boemer, F., Bourlard, L., Bulk, S., De Leener, A., Désir, J., Devriendt, K., Dheedene, A., Duquenne, A., Fieremans, N., Fieuw, A., Gatot, J-S., Grisart, B., Janssens, S., Khudashvili, N., Lannoo, L., ... Janssens, K. (2021). Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations. Obstetrics & Gynecology, 137(6), 1102-1108. https://doi.org/10.1097/AOG.0000000000004385

van Riel, Margot ; Brison, Nathalie ; Baetens, Machteld ; Blaumeiser, Bettina ; Boemer, François ; Bourlard, Laura ; Bulk, Saskia ; De Leener, Anne ; Désir, Julie ; Devriendt, Koenraad ; Dheedene, Annelies ; Duquenne, Armelle ; Fieremans, Nathalie ; Fieuw, Annelies ; Gatot, Jean-Stéphane ; Grisart, Bernard ; Janssens, Sandra ; Khudashvili, Naïri ; Lannoo, Lore ; Marichal, Axel ; Meunier, Colombine ; Palmeira, Leonor ; Parijs, Ilse ; Pichon, Bruno ; Roets, Ellen ; Sammels, Eva ; Smits, Guillaume ; Suenaert, Marion ; Sznajer, Yves ; Van den Bogaert, Kris ; Vancoillie, Leen ; Vandeputte, Lotte ; Vantroys, Elise ; Vermeesch, Joris Robert ; Janssens, K. / Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations. In: Obstetrics & Gynecology. 2021 ; Vol. 137, No. 6. pp. 1102-1108.

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title = "Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations",

abstract = "OBJECTIVE: To evaluate the accuracy and diagnostic value of genome-wide noninvasive prenatal testing (NIPT) for the detection of fetal aneuploidies in multiple gestations, with a focus on dichorionic-diamniotic twin pregnancies.METHODS: We performed a retrospective cohort study including data from pregnant women with a twin or higher-order gestation who underwent genome-wide NIPT at one of the eight Belgian genetic centers between November 1, 2013, and March 1, 2020. Chorionicity and amnionicity were determined by ultrasonography. Follow-up invasive testing was carried out in the event of positive NIPT results. Sensitivity and specificity were calculated for the detection of trisomy 21, 18, and 13 in the dichorionic-diamniotic twin cohort.RESULTS: Unique NIPT analyses were performed for 4,150 pregnant women with a multiple gestation and an additional 767 with vanishing gestations. The failure rate in multiple gestations excluding vanishing gestations ranged from 0% to 11.7% among the different genetic centers. Overall, the failure rate was 4.8%, which could be reduced to 1.2% after single resampling. There were no common fetal trisomies detected among the 86 monochorionic-monoamniotic and 25 triplet cases. Two monochorionic-diamniotic twins had an NIPT result indicative of a trisomy 21, which was confirmed in both fetuses. Among 2,716 dichorionic-diamniotic twin gestations, a sensitivity of 100% (95% CI 74.12-100%) and a specificity of 100% (95% CI 99.86-100%) was reached for trisomy 21 (n=12). For trisomy 18 (n=3), the respective values were 75% (95% CI 30.06-95.44%) sensitivity and 100% (95% CI 99.86-100%) specificity, and for trisomy 13 (n=2), 100% (95% CI 20.65-100%) sensitivity and 99.96% (95% CI 99.79-99.99%) specificity. In the vanishing gestation group, 28 NIPT results were positive for trisomy 21, 18, or 13, with only five confirmed trisomies.CONCLUSION: Genome-wide NIPT performed accurately for detection of aneuploidy in dichorionic-diamniotic twin gestations.",

author = "{van Riel}, Margot and Nathalie Brison and Machteld Baetens and Bettina Blaumeiser and Fran{\c c}ois Boemer and Laura Bourlard and Saskia Bulk and {De Leener}, Anne and Julie D{\'e}sir and Koenraad Devriendt and Annelies Dheedene and Armelle Duquenne and Nathalie Fieremans and Annelies Fieuw and Jean-St{\'e}phane Gatot and Bernard Grisart and Sandra Janssens and Na{\"i}ri Khudashvili and Lore Lannoo and Axel Marichal and Colombine Meunier and Leonor Palmeira and Ilse Parijs and Bruno Pichon and Ellen Roets and Eva Sammels and Guillaume Smits and Marion Suenaert and Yves Sznajer and {Van den Bogaert}, Kris and Leen Vancoillie and Lotte Vandeputte and Elise Vantroys and Vermeesch, {Joris Robert} and K Janssens",

year = "2021",

month = jun,

day = "1",

doi = "10.1097/AOG.0000000000004385",

language = "English",

volume = "137",

pages = "1102--1108",

journal = "Obstetrics & Gynecology",

issn = "0029-7844",

publisher = "Lippincott Williams and Wilkins",

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van Riel, M, Brison, N, Baetens, M, Blaumeiser, B, Boemer, F, Bourlard, L, Bulk, S, De Leener, A, Désir, J, Devriendt, K, Dheedene, A, Duquenne, A, Fieremans, N , Fieuw, A, Gatot, J-S, Grisart, B, Janssens, S, Khudashvili, N, Lannoo, L, Marichal, A, Meunier, C, Palmeira, L, Parijs, I, Pichon, B, Roets, E, Sammels, E, Smits, G, Suenaert, M, Sznajer, Y, Van den Bogaert, K, Vancoillie, L, Vandeputte, L, Vantroys, E, Vermeesch, JR & Janssens, K 2021, 'Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations', Obstetrics & Gynecology, vol. 137, no. 6, pp. 1102-1108. https://doi.org/10.1097/AOG.0000000000004385

Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations. / van Riel, Margot; Brison, Nathalie; Baetens, Machteld; Blaumeiser, Bettina; Boemer, François; Bourlard, Laura; Bulk, Saskia; De Leener, Anne; Désir, Julie; Devriendt, Koenraad; Dheedene, Annelies; Duquenne, Armelle; Fieremans, Nathalie ; Fieuw, Annelies; Gatot, Jean-Stéphane; Grisart, Bernard; Janssens, Sandra; Khudashvili, Naïri; Lannoo, Lore; Marichal, Axel; Meunier, Colombine; Palmeira, Leonor; Parijs, Ilse; Pichon, Bruno; Roets, Ellen; Sammels, Eva; Smits, Guillaume; Suenaert, Marion; Sznajer, Yves; Van den Bogaert, Kris; Vancoillie, Leen; Vandeputte, Lotte; Vantroys, Elise; Vermeesch, Joris Robert; Janssens, K.

In: Obstetrics & Gynecology, Vol. 137, No. 6, 01.06.2021, p. 1102-1108.

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

TY - JOUR

T1 - Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations

AU - van Riel, Margot

AU - Brison, Nathalie

AU - Baetens, Machteld

AU - Blaumeiser, Bettina

AU - Boemer, François

AU - Bourlard, Laura

AU - Bulk, Saskia

AU - De Leener, Anne

AU - Désir, Julie

AU - Devriendt, Koenraad

AU - Dheedene, Annelies

AU - Duquenne, Armelle

AU - Fieremans, Nathalie

AU - Fieuw, Annelies

AU - Gatot, Jean-Stéphane

AU - Grisart, Bernard

AU - Janssens, Sandra

AU - Khudashvili, Naïri

AU - Lannoo, Lore

AU - Marichal, Axel

AU - Meunier, Colombine

AU - Palmeira, Leonor

AU - Parijs, Ilse

AU - Pichon, Bruno

AU - Roets, Ellen

AU - Sammels, Eva

AU - Smits, Guillaume

AU - Suenaert, Marion

AU - Sznajer, Yves

AU - Van den Bogaert, Kris

AU - Vancoillie, Leen

AU - Vandeputte, Lotte

AU - Vantroys, Elise

AU - Vermeesch, Joris Robert

AU - Janssens, K

PY - 2021/6/1

Y1 - 2021/6/1

N2 - OBJECTIVE: To evaluate the accuracy and diagnostic value of genome-wide noninvasive prenatal testing (NIPT) for the detection of fetal aneuploidies in multiple gestations, with a focus on dichorionic-diamniotic twin pregnancies.METHODS: We performed a retrospective cohort study including data from pregnant women with a twin or higher-order gestation who underwent genome-wide NIPT at one of the eight Belgian genetic centers between November 1, 2013, and March 1, 2020. Chorionicity and amnionicity were determined by ultrasonography. Follow-up invasive testing was carried out in the event of positive NIPT results. Sensitivity and specificity were calculated for the detection of trisomy 21, 18, and 13 in the dichorionic-diamniotic twin cohort.RESULTS: Unique NIPT analyses were performed for 4,150 pregnant women with a multiple gestation and an additional 767 with vanishing gestations. The failure rate in multiple gestations excluding vanishing gestations ranged from 0% to 11.7% among the different genetic centers. Overall, the failure rate was 4.8%, which could be reduced to 1.2% after single resampling. There were no common fetal trisomies detected among the 86 monochorionic-monoamniotic and 25 triplet cases. Two monochorionic-diamniotic twins had an NIPT result indicative of a trisomy 21, which was confirmed in both fetuses. Among 2,716 dichorionic-diamniotic twin gestations, a sensitivity of 100% (95% CI 74.12-100%) and a specificity of 100% (95% CI 99.86-100%) was reached for trisomy 21 (n=12). For trisomy 18 (n=3), the respective values were 75% (95% CI 30.06-95.44%) sensitivity and 100% (95% CI 99.86-100%) specificity, and for trisomy 13 (n=2), 100% (95% CI 20.65-100%) sensitivity and 99.96% (95% CI 99.79-99.99%) specificity. In the vanishing gestation group, 28 NIPT results were positive for trisomy 21, 18, or 13, with only five confirmed trisomies.CONCLUSION: Genome-wide NIPT performed accurately for detection of aneuploidy in dichorionic-diamniotic twin gestations.

AB - OBJECTIVE: To evaluate the accuracy and diagnostic value of genome-wide noninvasive prenatal testing (NIPT) for the detection of fetal aneuploidies in multiple gestations, with a focus on dichorionic-diamniotic twin pregnancies.METHODS: We performed a retrospective cohort study including data from pregnant women with a twin or higher-order gestation who underwent genome-wide NIPT at one of the eight Belgian genetic centers between November 1, 2013, and March 1, 2020. Chorionicity and amnionicity were determined by ultrasonography. Follow-up invasive testing was carried out in the event of positive NIPT results. Sensitivity and specificity were calculated for the detection of trisomy 21, 18, and 13 in the dichorionic-diamniotic twin cohort.RESULTS: Unique NIPT analyses were performed for 4,150 pregnant women with a multiple gestation and an additional 767 with vanishing gestations. The failure rate in multiple gestations excluding vanishing gestations ranged from 0% to 11.7% among the different genetic centers. Overall, the failure rate was 4.8%, which could be reduced to 1.2% after single resampling. There were no common fetal trisomies detected among the 86 monochorionic-monoamniotic and 25 triplet cases. Two monochorionic-diamniotic twins had an NIPT result indicative of a trisomy 21, which was confirmed in both fetuses. Among 2,716 dichorionic-diamniotic twin gestations, a sensitivity of 100% (95% CI 74.12-100%) and a specificity of 100% (95% CI 99.86-100%) was reached for trisomy 21 (n=12). For trisomy 18 (n=3), the respective values were 75% (95% CI 30.06-95.44%) sensitivity and 100% (95% CI 99.86-100%) specificity, and for trisomy 13 (n=2), 100% (95% CI 20.65-100%) sensitivity and 99.96% (95% CI 99.79-99.99%) specificity. In the vanishing gestation group, 28 NIPT results were positive for trisomy 21, 18, or 13, with only five confirmed trisomies.CONCLUSION: Genome-wide NIPT performed accurately for detection of aneuploidy in dichorionic-diamniotic twin gestations.

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U2 - 10.1097/AOG.0000000000004385

DO - 10.1097/AOG.0000000000004385

M3 - Article

C2 - 33957658

VL - 137

SP - 1102

EP - 1108

JO - Obstetrics & Gynecology

JF - Obstetrics & Gynecology

SN - 0029-7844

IS - 6

ER -

Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations

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