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

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 wo...

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Autores principales: Petersen, Olav B., Smith, Eric, Van Opstal, Diane, Polak, Marike, Knapen, Maarten F. C. M., Diderich, Karin E. M., Bilardo, Caterina M., Arends, Lidia R., Vogel, Ida, Srebniak, Malgorzata I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318216/
https://www.ncbi.nlm.nih.gov/pubmed/32306377
http://dx.doi.org/10.1111/aogs.13877
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author Petersen, Olav B.
Smith, Eric
Van Opstal, Diane
Polak, Marike
Knapen, Maarten F. C. M.
Diderich, Karin E. M.
Bilardo, Caterina M.
Arends, Lidia R.
Vogel, Ida
Srebniak, Malgorzata I.
author_facet Petersen, Olav B.
Smith, Eric
Van Opstal, Diane
Polak, Marike
Knapen, Maarten F. C. M.
Diderich, Karin E. M.
Bilardo, Caterina M.
Arends, Lidia R.
Vogel, Ida
Srebniak, Malgorzata I.
author_sort Petersen, Olav B.
collection PubMed
description 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.
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spelling pubmed-73182162020-06-29 Nuchal translucency of 3.0‐3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review Petersen, Olav B. Smith, Eric Van Opstal, Diane Polak, Marike Knapen, Maarten F. C. M. Diderich, Karin E. M. Bilardo, Caterina M. Arends, Lidia R. Vogel, Ida Srebniak, Malgorzata I. Acta Obstet Gynecol Scand Article 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. John Wiley and Sons Inc. 2020-05-12 2020-06 /pmc/articles/PMC7318216/ /pubmed/32306377 http://dx.doi.org/10.1111/aogs.13877 Text en © 2020 The Authors. Acta Obstetricia et Gynecologica Scandinavica published by John Wiley & Sons Ltd on behalf of Nordic This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Article
Petersen, Olav B.
Smith, Eric
Van Opstal, Diane
Polak, Marike
Knapen, Maarten F. C. M.
Diderich, Karin E. M.
Bilardo, Caterina M.
Arends, Lidia R.
Vogel, Ida
Srebniak, Malgorzata I.
Nuchal translucency of 3.0‐3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review
title Nuchal translucency of 3.0‐3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review
title_full Nuchal translucency of 3.0‐3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review
title_fullStr Nuchal translucency of 3.0‐3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review
title_full_unstemmed Nuchal translucency of 3.0‐3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review
title_short Nuchal translucency of 3.0‐3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review
title_sort nuchal translucency of 3.0‐3.4 mm an indication for nipt or microarray? cohort analysis and literature review
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318216/
https://www.ncbi.nlm.nih.gov/pubmed/32306377
http://dx.doi.org/10.1111/aogs.13877
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