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National data on the early clinical use of non-invasive prenatal testing in public and private healthcare in Denmark 2013-2017

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Lund, I. C. B., Petersen, O. B., Becher, N. H., Lildballe, D. L., Jørgensen, F. S., Ambye, L., Skibsted, L., Ernst, A., Jensen, A. N., Fagerberg, C., Brasch-Andersen, C., Tabor, A., Zingenberg, H. J., Nørgaard, P., Almind, G. J., Vestergaard, E. M., & Vogel, I. (2021). National data on the early clinical use of non-invasive prenatal testing in public and private healthcare in Denmark 2013-2017. Acta Obstetricia et Gynecologica Scandinavica, 100(5), 884-892. https://doi.org/10.1111/aogs.14052

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Lund, Ida C B ; Petersen, Olav B ; Becher, Naja H ; Lildballe, Dorte L ; Jørgensen, Finn S ; Ambye, Louise ; Skibsted, Lillian ; Ernst, Anja ; Jensen, Ann N ; Fagerberg, Christina ; Brasch-Andersen, Charlotte ; Tabor, Ann ; Zingenberg, Helle J ; Nørgaard, Pernille ; Almind, Gitte J ; Vestergaard, Else Marie ; Vogel, Ida. / National data on the early clinical use of non-invasive prenatal testing in public and private healthcare in Denmark 2013-2017. I: Acta Obstetricia et Gynecologica Scandinavica. 2021 ; Bind 100, Nr. 5. s. 884-892.

Bibtex

@article{b4f5180b7306416a81a76e9c3b00c445,
title = "National data on the early clinical use of non-invasive prenatal testing in public and private healthcare in Denmark 2013-2017",
abstract = "Introduction: In Denmark, non-invasive prenatal testing (NIPT) has been used since 2013. We aimed to evaluate the early clinical use of NIPT in Danish public and private healthcare settings before NIPT became an integrated part of the national guidelines on prenatal screening and diagnosis in 2017. Material and methods: NIPT data were collected between March 2013 and June 2017 from national public registries and private providers. Results from follow-up samples (chorionic villi, amniotic fluid, postnatal blood or fetal tissue) were included from The Danish Cytogenetics Central Registry and indications and outcome from The Danish Fetal Medicine Database. Results: A total of 3936 NIPT results were included in the study from public hospitals (n = 3463, 88.0%) and private clinics (n = 473, 12.0%). The total number of prenatal tests was 19 713 during the study period: 20% were NIPT analyses (n = 3936) and 80% invasive procedures (n = 15 777). Twenty-five percent of NIPTs in the private clinics were performed before gestational week 11 +0, whereas NIPT in public settings was used only after combined first trimester screening (P <.001). Regardless of indication, the national public sensitivity was 96.9% (95% CI 82.0%-99.8%) for trisomy 21, 100% (95% CI 46.3%-100%) for trisomy 18, 100% (95% CI 5.5%-100%) for trisomy 13, and 87.0% (95% CI 74.5%-92.4%) for any fetal chromosomal aberration. Forty-seven true-positive NIPT results included cases of common aneuplodies (trisomy 21, n = 31; trisomy 18, n = 5; and trisomy 13, n = 1), sex chromosomal aberrations (n = 7) and atypical chromosomal aberrations (n = 3). One false-negative NIPT result occurred (trisomy 21). Of 47 cases, 21 (45%) cases with a true-positive NIPT result resulted in live births by choice; 11 of these children had Down and 4 had Edwards syndrome. Conclusions: The total number of NIPT analyses was low compared with the number of invasive procedures in the implementation period. In contrast to the generally high termination rate after a positive result following invasive testing in Denmark, a high proportion of true-positive NIPT results from the public setting resulted in live births. NIPT may be an important risk-free alternative to invasive testing for a minority of women in the public setting who wish to use prenatal genetic testing for information only and not for reproductive decision-making. ",
keywords = "Adult, Chromosome Aberrations, Denmark/epidemiology, Down Syndrome/diagnosis, Female, Health Facilities, Humans, Middle Aged, Noninvasive Prenatal Testing/statistics & numerical data, Pregnancy, Private Sector, Public Sector, Sensitivity and Specificity, Trisomy 13 Syndrome/diagnosis, Trisomy 18 Syndrome/diagnosis",
author = "Lund, {Ida C B} and Petersen, {Olav B} and Becher, {Naja H} and Lildballe, {Dorte L} and J{\o}rgensen, {Finn S} and Louise Ambye and Lillian Skibsted and Anja Ernst and Jensen, {Ann N} and Christina Fagerberg and Charlotte Brasch-Andersen and Ann Tabor and Zingenberg, {Helle J} and Pernille N{\o}rgaard and Almind, {Gitte J} and Vestergaard, {Else Marie} and Ida Vogel",
note = "{\textcopyright} 2021 Nordic Federation of Societies of Obstetrics and Gynecology (NFOG). Published by John Wiley & Sons Ltd.",
year = "2021",
month = may,
doi = "10.1111/aogs.14052",
language = "English",
volume = "100",
pages = "884--892",
journal = "Acta Obstetricia et Gynecologica Scandinavica",
issn = "0001-6349",
publisher = "Informa Healthcare",
number = "5",

}

RIS

TY - JOUR

T1 - National data on the early clinical use of non-invasive prenatal testing in public and private healthcare in Denmark 2013-2017

AU - Lund, Ida C B

AU - Petersen, Olav B

AU - Becher, Naja H

AU - Lildballe, Dorte L

AU - Jørgensen, Finn S

AU - Ambye, Louise

AU - Skibsted, Lillian

AU - Ernst, Anja

AU - Jensen, Ann N

AU - Fagerberg, Christina

AU - Brasch-Andersen, Charlotte

AU - Tabor, Ann

AU - Zingenberg, Helle J

AU - Nørgaard, Pernille

AU - Almind, Gitte J

AU - Vestergaard, Else Marie

AU - Vogel, Ida

N1 - © 2021 Nordic Federation of Societies of Obstetrics and Gynecology (NFOG). Published by John Wiley & Sons Ltd.

PY - 2021/5

Y1 - 2021/5

N2 - Introduction: In Denmark, non-invasive prenatal testing (NIPT) has been used since 2013. We aimed to evaluate the early clinical use of NIPT in Danish public and private healthcare settings before NIPT became an integrated part of the national guidelines on prenatal screening and diagnosis in 2017. Material and methods: NIPT data were collected between March 2013 and June 2017 from national public registries and private providers. Results from follow-up samples (chorionic villi, amniotic fluid, postnatal blood or fetal tissue) were included from The Danish Cytogenetics Central Registry and indications and outcome from The Danish Fetal Medicine Database. Results: A total of 3936 NIPT results were included in the study from public hospitals (n = 3463, 88.0%) and private clinics (n = 473, 12.0%). The total number of prenatal tests was 19 713 during the study period: 20% were NIPT analyses (n = 3936) and 80% invasive procedures (n = 15 777). Twenty-five percent of NIPTs in the private clinics were performed before gestational week 11 +0, whereas NIPT in public settings was used only after combined first trimester screening (P <.001). Regardless of indication, the national public sensitivity was 96.9% (95% CI 82.0%-99.8%) for trisomy 21, 100% (95% CI 46.3%-100%) for trisomy 18, 100% (95% CI 5.5%-100%) for trisomy 13, and 87.0% (95% CI 74.5%-92.4%) for any fetal chromosomal aberration. Forty-seven true-positive NIPT results included cases of common aneuplodies (trisomy 21, n = 31; trisomy 18, n = 5; and trisomy 13, n = 1), sex chromosomal aberrations (n = 7) and atypical chromosomal aberrations (n = 3). One false-negative NIPT result occurred (trisomy 21). Of 47 cases, 21 (45%) cases with a true-positive NIPT result resulted in live births by choice; 11 of these children had Down and 4 had Edwards syndrome. Conclusions: The total number of NIPT analyses was low compared with the number of invasive procedures in the implementation period. In contrast to the generally high termination rate after a positive result following invasive testing in Denmark, a high proportion of true-positive NIPT results from the public setting resulted in live births. NIPT may be an important risk-free alternative to invasive testing for a minority of women in the public setting who wish to use prenatal genetic testing for information only and not for reproductive decision-making.

AB - Introduction: In Denmark, non-invasive prenatal testing (NIPT) has been used since 2013. We aimed to evaluate the early clinical use of NIPT in Danish public and private healthcare settings before NIPT became an integrated part of the national guidelines on prenatal screening and diagnosis in 2017. Material and methods: NIPT data were collected between March 2013 and June 2017 from national public registries and private providers. Results from follow-up samples (chorionic villi, amniotic fluid, postnatal blood or fetal tissue) were included from The Danish Cytogenetics Central Registry and indications and outcome from The Danish Fetal Medicine Database. Results: A total of 3936 NIPT results were included in the study from public hospitals (n = 3463, 88.0%) and private clinics (n = 473, 12.0%). The total number of prenatal tests was 19 713 during the study period: 20% were NIPT analyses (n = 3936) and 80% invasive procedures (n = 15 777). Twenty-five percent of NIPTs in the private clinics were performed before gestational week 11 +0, whereas NIPT in public settings was used only after combined first trimester screening (P <.001). Regardless of indication, the national public sensitivity was 96.9% (95% CI 82.0%-99.8%) for trisomy 21, 100% (95% CI 46.3%-100%) for trisomy 18, 100% (95% CI 5.5%-100%) for trisomy 13, and 87.0% (95% CI 74.5%-92.4%) for any fetal chromosomal aberration. Forty-seven true-positive NIPT results included cases of common aneuplodies (trisomy 21, n = 31; trisomy 18, n = 5; and trisomy 13, n = 1), sex chromosomal aberrations (n = 7) and atypical chromosomal aberrations (n = 3). One false-negative NIPT result occurred (trisomy 21). Of 47 cases, 21 (45%) cases with a true-positive NIPT result resulted in live births by choice; 11 of these children had Down and 4 had Edwards syndrome. Conclusions: The total number of NIPT analyses was low compared with the number of invasive procedures in the implementation period. In contrast to the generally high termination rate after a positive result following invasive testing in Denmark, a high proportion of true-positive NIPT results from the public setting resulted in live births. NIPT may be an important risk-free alternative to invasive testing for a minority of women in the public setting who wish to use prenatal genetic testing for information only and not for reproductive decision-making.

KW - Adult

KW - Chromosome Aberrations

KW - Denmark/epidemiology

KW - Down Syndrome/diagnosis

KW - Female

KW - Health Facilities

KW - Humans

KW - Middle Aged

KW - Noninvasive Prenatal Testing/statistics & numerical data

KW - Pregnancy

KW - Private Sector

KW - Public Sector

KW - Sensitivity and Specificity

KW - Trisomy 13 Syndrome/diagnosis

KW - Trisomy 18 Syndrome/diagnosis

UR - http://www.scopus.com/inward/record.url?scp=85101585373&partnerID=8YFLogxK

U2 - 10.1111/aogs.14052

DO - 10.1111/aogs.14052

M3 - Journal article

C2 - 33230826

VL - 100

SP - 884

EP - 892

JO - Acta Obstetricia et Gynecologica Scandinavica

JF - Acta Obstetricia et Gynecologica Scandinavica

SN - 0001-6349

IS - 5

ER -

ID: 61307440