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Performance and diagnostic value of genome-wide noninvasive prenatal testing in multiple gestations

(2021) OBSTETRICS AND GYNECOLOGY. 137(6). p.1102-1108
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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.
Keywords
CELL-FREE DNA, MATERNAL BLOOD, ANEUPLOIDY DETECTION, FETAL ANEUPLOIDY, PREGNANCIES, MOSAICISM, TRISOMIES, UPDATE

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MLA
van Riel, Margot, et al. “Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.” OBSTETRICS AND GYNECOLOGY, vol. 137, no. 6, 2021, pp. 1102–08, doi:10.1097/AOG.0000000000004385.
APA
van Riel, M., Brison, N., Baetens, M., Blaumeiser, B., Boemer, F., Bourlard, L., … Janssens, K. (2021). Performance and diagnostic value of genome-wide noninvasive prenatal testing in multiple gestations. OBSTETRICS AND GYNECOLOGY, 137(6), 1102–1108. https://doi.org/10.1097/AOG.0000000000004385
Chicago author-date
Riel, Margot van, Nathalie Brison, Machteld Baetens, Bettina Blaumeiser, Francois Boemer, Laura Bourlard, Saskia Bulk, et al. 2021. “Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.” OBSTETRICS AND GYNECOLOGY 137 (6): 1102–8. https://doi.org/10.1097/AOG.0000000000004385.
Chicago author-date (all authors)
van Riel, Margot, Nathalie Brison, Machteld Baetens, Bettina Blaumeiser, Francois Boemer, Laura Bourlard, Saskia Bulk, Anne De Leener, Julie Desir, Koenraad Devriendt, Annelies Dheedene, Armelle Duquenne, Nathalie Fieremans, Annelies Fieuw, Jean-Stephane Gatot, Bernard Grisart, Sandra Janssens, Nairi 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, and Katrien Janssens. 2021. “Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.” OBSTETRICS AND GYNECOLOGY 137 (6): 1102–1108. doi:10.1097/AOG.0000000000004385.
Vancouver
1.
van Riel M, Brison N, Baetens M, Blaumeiser B, Boemer F, Bourlard L, et al. Performance and diagnostic value of genome-wide noninvasive prenatal testing in multiple gestations. OBSTETRICS AND GYNECOLOGY. 2021;137(6):1102–8.
IEEE
[1]
M. van Riel et al., “Performance and diagnostic value of genome-wide noninvasive prenatal testing in multiple gestations,” OBSTETRICS AND GYNECOLOGY, vol. 137, no. 6, pp. 1102–1108, 2021.
@article{8743480,
  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 Brison, Nathalie and Baetens, Machteld and Blaumeiser, Bettina and Boemer, Francois and Bourlard, Laura and Bulk, Saskia and De Leener, Anne and Desir, Julie and Devriendt, Koenraad and Dheedene, Annelies and Duquenne, Armelle and Fieremans, Nathalie and Fieuw, Annelies and Gatot, Jean-Stephane and Grisart, Bernard and Janssens, Sandra and Khudashvili, Nairi and Lannoo, Lore and Marichal, Axel and Meunier, Colombine and Palmeira, Leonor and Parijs, Ilse and Pichon, Bruno and Roets, Ellen and Sammels, Eva and Smits, Guillaume and Suenaert, Marion and Sznajer, Yves and Van den Bogaert, Kris and Vancoillie, Leen and Vandeputte, Lotte and Vantroys, Elise and Vermeesch, Joris Robert and Janssens, Katrien}},
  issn         = {{0029-7844}},
  journal      = {{OBSTETRICS AND GYNECOLOGY}},
  keywords     = {{CELL-FREE DNA,MATERNAL BLOOD,ANEUPLOIDY DETECTION,FETAL ANEUPLOIDY,PREGNANCIES,MOSAICISM,TRISOMIES,UPDATE}},
  language     = {{eng}},
  number       = {{6}},
  pages        = {{1102--1108}},
  title        = {{Performance and diagnostic value of genome-wide noninvasive prenatal testing in multiple gestations}},
  url          = {{http://dx.doi.org/10.1097/AOG.0000000000004385}},
  volume       = {{137}},
  year         = {{2021}},
}

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