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Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review

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Petersen, OB, Smith, E, Van OpstaL, D, Polak, M, Knapen, MFCM, Diderich, KEM, Bilardo, CM, Arends, LR, Vogel, I & Ilona Srebniak, M 2020, 'Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review', Acta Obstetricia et Gynecologica Scandinavica, vol. 99, no. 6, pp. 765-774. https://doi.org/10.1111/aogs.13877

APA

Petersen, O. B., Smith, E., Van OpstaL, D., Polak, M., Knapen, M. F. C. M., Diderich, K. E. M., Bilardo, C. M., Arends, L. R., Vogel, I., & Ilona Srebniak, M. (2020). Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review. Acta Obstetricia et Gynecologica Scandinavica, 99(6), 765-774. https://doi.org/10.1111/aogs.13877

CBE

Petersen OB, Smith E, Van OpstaL D, Polak M, Knapen MFCM, Diderich KEM, Bilardo CM, Arends LR, Vogel I, Ilona Srebniak M. 2020. Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review. Acta Obstetricia et Gynecologica Scandinavica. 99(6):765-774. https://doi.org/10.1111/aogs.13877

MLA

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Author

Petersen, Olav Bjørn ; Smith, Eric ; Van OpstaL, Diane ; Polak, Marike ; Knapen, Maarten F C M ; Diderich, Karin E M ; Bilardo, Caterina Maddalena ; Arends, Lidia R ; Vogel, Ida ; Ilona Srebniak, Malgorzata. / Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review. In: Acta Obstetricia et Gynecologica Scandinavica. 2020 ; Vol. 99, No. 6. pp. 765-774.

Bibtex

@article{a31a888d7c2e426fbb1d8c12c7e84a05,
title = "Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review",
abstract = "Introduction: Currently fetal nuchal translucency (NT) ≥3.5 mm is an indication for invasive testing often followed by chromosomal microarray. The aim of this study was to assess the risks for chromosomal aberrations in fetuses with an NT 3.0-3.4 mm, to determine whether invasive prenatal testing would be relevant in these cases and to assess the residual risks in fetuses with normal non-invasive prenatal test (NIPT) results. Material and methods: A retrospective study and meta-analysis of literature cases with NT between 3.0 and 3.4 mm and 2 cohorts of pregnant women referred for invasive testing and chromosomal microarray was performed: Rotterdam region (with a risk >1:200 and NT between 3.0 and 3.4 mm) tested in the period July 2012 to June 2019 and Central Denmark region (with a risk >1:300 and NT between 3.0 and 3.4 mm) tested between September 2015 and December 2018. Results: A total of 522 fetuses were referred for invasive testing and chromosomal microarray. Meta-analysis indicated that in 1:7.4 (13.5% [95% CI 8.2%-21.5%]) fetuses a chromosomal aberration was diagnosed. Of these aberrant cases, 47/68 (69%) involved trisomy 21, 18, and 13 and would potentially be detected by all NIPT approaches. The residual risk for missing a (sub)microscopic chromosome aberration depends on the NIPT approach and is highest if NIPT was performed only for common trisomies–1:21 (4.8% [95% CI 3.2%-7.3%]). However, it may be substantially lowered if a genome-wide 10-Mb resolution NIPT test was offered (~1:464). Conclusions: Based on these data, we suggest that the NT cut-off for invasive testing could be 3.0 mm (instead of 3.5 mm) because of the high risk of 1:7.4 for a chromosomal aberration. If women were offered NIPT first, there would be a significant diagnostic delay because all abnormal NIPT results need to be confirmed by diagnostic testing. If the woman had already received a normal NIPT result, the residual risk of 1:21 to 1:464 for chromosome aberrations other than common trisomies, dependent on the NIPT approach, should be raised. If a pregnant woman declines invasive testing, but still wants a test with a broader coverage of clinically significant conditions then the genome-wide >10-Mb resolution NIPT test, which detects most aberrations, could be proposed.",
keywords = "microarray, microdeletion, non-invasive prenatal test, nuchal translucency, prenatal diagnosis, submicroscopic chromosomal abnormalities",
author = "Petersen, {Olav Bj{\o}rn} and Eric Smith and {Van OpstaL}, Diane and Marike Polak and Knapen, {Maarten F C M} and Diderich, {Karin E M} and Bilardo, {Caterina Maddalena} and Arends, {Lidia R} and Ida Vogel and {Ilona Srebniak}, Malgorzata",
note = "{\textcopyright} 2020 The Authors. Acta Obstetricia et Gynecologica Scandinavica published by John Wiley & Sons Ltd on behalf of Nordic.",
year = "2020",
month = jun,
doi = "10.1111/aogs.13877",
language = "English",
volume = "99",
pages = "765--774",
journal = "Acta Obstetricia et Gynecologica Scandinavica",
issn = "0001-6349",
publisher = "Informa Healthcare",
number = "6",

}

RIS

TY - JOUR

T1 - Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review

AU - Petersen, Olav Bjørn

AU - Smith, Eric

AU - Van OpstaL, Diane

AU - Polak, Marike

AU - Knapen, Maarten F C M

AU - Diderich, Karin E M

AU - Bilardo, Caterina Maddalena

AU - Arends, Lidia R

AU - Vogel, Ida

AU - Ilona Srebniak, Malgorzata

N1 - © 2020 The Authors. Acta Obstetricia et Gynecologica Scandinavica published by John Wiley & Sons Ltd on behalf of Nordic.

PY - 2020/6

Y1 - 2020/6

N2 - Introduction: Currently fetal nuchal translucency (NT) ≥3.5 mm is an indication for invasive testing often followed by chromosomal microarray. The aim of this study was to assess the risks for chromosomal aberrations in fetuses with an NT 3.0-3.4 mm, to determine whether invasive prenatal testing would be relevant in these cases and to assess the residual risks in fetuses with normal non-invasive prenatal test (NIPT) results. Material and methods: A retrospective study and meta-analysis of literature cases with NT between 3.0 and 3.4 mm and 2 cohorts of pregnant women referred for invasive testing and chromosomal microarray was performed: Rotterdam region (with a risk >1:200 and NT between 3.0 and 3.4 mm) tested in the period July 2012 to June 2019 and Central Denmark region (with a risk >1:300 and NT between 3.0 and 3.4 mm) tested between September 2015 and December 2018. Results: A total of 522 fetuses were referred for invasive testing and chromosomal microarray. Meta-analysis indicated that in 1:7.4 (13.5% [95% CI 8.2%-21.5%]) fetuses a chromosomal aberration was diagnosed. Of these aberrant cases, 47/68 (69%) involved trisomy 21, 18, and 13 and would potentially be detected by all NIPT approaches. The residual risk for missing a (sub)microscopic chromosome aberration depends on the NIPT approach and is highest if NIPT was performed only for common trisomies–1:21 (4.8% [95% CI 3.2%-7.3%]). However, it may be substantially lowered if a genome-wide 10-Mb resolution NIPT test was offered (~1:464). Conclusions: Based on these data, we suggest that the NT cut-off for invasive testing could be 3.0 mm (instead of 3.5 mm) because of the high risk of 1:7.4 for a chromosomal aberration. If women were offered NIPT first, there would be a significant diagnostic delay because all abnormal NIPT results need to be confirmed by diagnostic testing. If the woman had already received a normal NIPT result, the residual risk of 1:21 to 1:464 for chromosome aberrations other than common trisomies, dependent on the NIPT approach, should be raised. If a pregnant woman declines invasive testing, but still wants a test with a broader coverage of clinically significant conditions then the genome-wide >10-Mb resolution NIPT test, which detects most aberrations, could be proposed.

AB - Introduction: Currently fetal nuchal translucency (NT) ≥3.5 mm is an indication for invasive testing often followed by chromosomal microarray. The aim of this study was to assess the risks for chromosomal aberrations in fetuses with an NT 3.0-3.4 mm, to determine whether invasive prenatal testing would be relevant in these cases and to assess the residual risks in fetuses with normal non-invasive prenatal test (NIPT) results. Material and methods: A retrospective study and meta-analysis of literature cases with NT between 3.0 and 3.4 mm and 2 cohorts of pregnant women referred for invasive testing and chromosomal microarray was performed: Rotterdam region (with a risk >1:200 and NT between 3.0 and 3.4 mm) tested in the period July 2012 to June 2019 and Central Denmark region (with a risk >1:300 and NT between 3.0 and 3.4 mm) tested between September 2015 and December 2018. Results: A total of 522 fetuses were referred for invasive testing and chromosomal microarray. Meta-analysis indicated that in 1:7.4 (13.5% [95% CI 8.2%-21.5%]) fetuses a chromosomal aberration was diagnosed. Of these aberrant cases, 47/68 (69%) involved trisomy 21, 18, and 13 and would potentially be detected by all NIPT approaches. The residual risk for missing a (sub)microscopic chromosome aberration depends on the NIPT approach and is highest if NIPT was performed only for common trisomies–1:21 (4.8% [95% CI 3.2%-7.3%]). However, it may be substantially lowered if a genome-wide 10-Mb resolution NIPT test was offered (~1:464). Conclusions: Based on these data, we suggest that the NT cut-off for invasive testing could be 3.0 mm (instead of 3.5 mm) because of the high risk of 1:7.4 for a chromosomal aberration. If women were offered NIPT first, there would be a significant diagnostic delay because all abnormal NIPT results need to be confirmed by diagnostic testing. If the woman had already received a normal NIPT result, the residual risk of 1:21 to 1:464 for chromosome aberrations other than common trisomies, dependent on the NIPT approach, should be raised. If a pregnant woman declines invasive testing, but still wants a test with a broader coverage of clinically significant conditions then the genome-wide >10-Mb resolution NIPT test, which detects most aberrations, could be proposed.

KW - microarray

KW - microdeletion

KW - non-invasive prenatal test

KW - nuchal translucency

KW - prenatal diagnosis

KW - submicroscopic chromosomal abnormalities

UR - http://www.scopus.com/inward/record.url?scp=85084455743&partnerID=8YFLogxK

U2 - 10.1111/aogs.13877

DO - 10.1111/aogs.13877

M3 - Journal article

C2 - 32306377

VL - 99

SP - 765

EP - 774

JO - Acta Obstetricia et Gynecologica Scandinavica

JF - Acta Obstetricia et Gynecologica Scandinavica

SN - 0001-6349

IS - 6

ER -

ID: 59698113