Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?

OBJECTIVES: To give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first‐trimester screening and to investigate which of these abnormalities would be missed if cell‐free fetal DNA (cfDNA) were us...

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Autores principales: Bardi, Francesca, Bosschieter, Pien, Verheij, Joke, Go, Attie, Haak, Monique, Bekker, Mireille, Sikkel, Esther, Coumans, Audrey, Pajkrt, Eva, Bilardo, Caterina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7027496/
https://www.ncbi.nlm.nih.gov/pubmed/31697852
http://dx.doi.org/10.1002/pd.5590
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author Bardi, Francesca
Bosschieter, Pien
Verheij, Joke
Go, Attie
Haak, Monique
Bekker, Mireille
Sikkel, Esther
Coumans, Audrey
Pajkrt, Eva
Bilardo, Caterina
author_facet Bardi, Francesca
Bosschieter, Pien
Verheij, Joke
Go, Attie
Haak, Monique
Bekker, Mireille
Sikkel, Esther
Coumans, Audrey
Pajkrt, Eva
Bilardo, Caterina
author_sort Bardi, Francesca
collection PubMed
description OBJECTIVES: To give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first‐trimester screening and to investigate which of these abnormalities would be missed if cell‐free fetal DNA (cfDNA) were used as a first‐tier screening test for chromosomal abnormalities. METHODS: This is a national study including 1901 pregnancies with NT≥95th percentile referred to seven university hospitals in the Netherlands between 1 January 2010 and 1 January 2016. All cases with unknown pregnancy outcome were excluded. Results of detailed ultrasound examinations, karyotyping, genotyping, pregnancy and neonatal outcomes, investigation by a clinical geneticist and post‐mortem investigations were collected. RESULTS: In total, 821 (43%) pregnancies had at least one abnormality. The rate of abnormalities was 21% for fetuses with NT between 95(th) and 99(th) percentile and 62% for fetuses with NT≥99(th) percentile. Prevalence of single‐gene disorders, submicroscopic, chromosomal and structural abnormalities was 2%, 2%, 30% and 9%, respectively. CONCLUSION: Although cfDNA is superior to the combined test, especially for the detection of trisomy 21, 34% of the congenital abnormalities occurring in fetuses with increased NT may remain undetected in the first trimester of pregnancy, unless cfDNA is used in combination with fetal sonographic assessment, including NT measurement.
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spelling pubmed-70274962020-02-24 Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening? Bardi, Francesca Bosschieter, Pien Verheij, Joke Go, Attie Haak, Monique Bekker, Mireille Sikkel, Esther Coumans, Audrey Pajkrt, Eva Bilardo, Caterina Prenat Diagn Original Articles OBJECTIVES: To give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first‐trimester screening and to investigate which of these abnormalities would be missed if cell‐free fetal DNA (cfDNA) were used as a first‐tier screening test for chromosomal abnormalities. METHODS: This is a national study including 1901 pregnancies with NT≥95th percentile referred to seven university hospitals in the Netherlands between 1 January 2010 and 1 January 2016. All cases with unknown pregnancy outcome were excluded. Results of detailed ultrasound examinations, karyotyping, genotyping, pregnancy and neonatal outcomes, investigation by a clinical geneticist and post‐mortem investigations were collected. RESULTS: In total, 821 (43%) pregnancies had at least one abnormality. The rate of abnormalities was 21% for fetuses with NT between 95(th) and 99(th) percentile and 62% for fetuses with NT≥99(th) percentile. Prevalence of single‐gene disorders, submicroscopic, chromosomal and structural abnormalities was 2%, 2%, 30% and 9%, respectively. CONCLUSION: Although cfDNA is superior to the combined test, especially for the detection of trisomy 21, 34% of the congenital abnormalities occurring in fetuses with increased NT may remain undetected in the first trimester of pregnancy, unless cfDNA is used in combination with fetal sonographic assessment, including NT measurement. John Wiley and Sons Inc. 2019-11-27 2020-01 /pmc/articles/PMC7027496/ /pubmed/31697852 http://dx.doi.org/10.1002/pd.5590 Text en © 2019 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Original Articles
Bardi, Francesca
Bosschieter, Pien
Verheij, Joke
Go, Attie
Haak, Monique
Bekker, Mireille
Sikkel, Esther
Coumans, Audrey
Pajkrt, Eva
Bilardo, Caterina
Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?
title Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?
title_full Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?
title_fullStr Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?
title_full_unstemmed Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?
title_short Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?
title_sort is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7027496/
https://www.ncbi.nlm.nih.gov/pubmed/31697852
http://dx.doi.org/10.1002/pd.5590
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