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Cell‐free DNA screening for rare autosomal trisomies and segmental chromosome imbalances

OBJECTIVE: To assess the outcomes of pregnancies at high‐risk for rare autosomal trisomies (RATs) and segmental imbalances (SIs) on cell‐free DNA (cfDNA) screening. METHOD: A retrospective study of women who underwent cfDNA screening between September 2019 and July 2021 at three ultrasound services...

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Autores principales: Raymond, Yvette C., Fernando, Shavi, Menezes, Melody, Meagher, Simon, Mol, Ben W., McLennan, Andrew, Scott, Fergus, Mizia, Karen, Carey, Karen, Fleming, Gabrielle, Rolnik, Daniel Lorber
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9826090/
https://www.ncbi.nlm.nih.gov/pubmed/36068932
http://dx.doi.org/10.1002/pd.6233
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author Raymond, Yvette C.
Fernando, Shavi
Menezes, Melody
Meagher, Simon
Mol, Ben W.
McLennan, Andrew
Scott, Fergus
Mizia, Karen
Carey, Karen
Fleming, Gabrielle
Rolnik, Daniel Lorber
author_facet Raymond, Yvette C.
Fernando, Shavi
Menezes, Melody
Meagher, Simon
Mol, Ben W.
McLennan, Andrew
Scott, Fergus
Mizia, Karen
Carey, Karen
Fleming, Gabrielle
Rolnik, Daniel Lorber
author_sort Raymond, Yvette C.
collection PubMed
description OBJECTIVE: To assess the outcomes of pregnancies at high‐risk for rare autosomal trisomies (RATs) and segmental imbalances (SIs) on cell‐free DNA (cfDNA) screening. METHOD: A retrospective study of women who underwent cfDNA screening between September 2019 and July 2021 at three ultrasound services in Australia. Positive predictive values (PPVs) were calculated using fetal chromosomal analysis. RESULTS: Among 23,857 women screened, there were 93 high‐risk results for RATs (0.39%) and 82 for SIs (0.34%). The PPVs were 3.8% (3/78, 95% CI 0.8%–10.8%) for RATs and 19.1% (13/68, 95% CI 10.6%–30.5%) for SIs. If fetuses with structural anomalies were also counted as true‐positive cases, the PPV for RATS increased to 8.5% (7/82, 95% CI 3.5%–16.8%). Among 85 discordant cases with birth outcomes available (65.4%), discordant positive RATs had a significantly higher proportion of infants born below the 10th and 3rd birthweight percentiles than expected (19.6% (p = 0.022) and 9.8% (p = 0.004), respectively), which was not observed in the SI group (2.9% < 10th (p = 0.168) and 0.0% <3rd (p = 0.305)). CONCLUSION: The PPVs for SI and RAT results are low, except when a structural abnormality is also present. Discordant positive RATs are associated with growth restriction.
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spelling pubmed-98260902023-01-09 Cell‐free DNA screening for rare autosomal trisomies and segmental chromosome imbalances Raymond, Yvette C. Fernando, Shavi Menezes, Melody Meagher, Simon Mol, Ben W. McLennan, Andrew Scott, Fergus Mizia, Karen Carey, Karen Fleming, Gabrielle Rolnik, Daniel Lorber Prenat Diagn Original Articles OBJECTIVE: To assess the outcomes of pregnancies at high‐risk for rare autosomal trisomies (RATs) and segmental imbalances (SIs) on cell‐free DNA (cfDNA) screening. METHOD: A retrospective study of women who underwent cfDNA screening between September 2019 and July 2021 at three ultrasound services in Australia. Positive predictive values (PPVs) were calculated using fetal chromosomal analysis. RESULTS: Among 23,857 women screened, there were 93 high‐risk results for RATs (0.39%) and 82 for SIs (0.34%). The PPVs were 3.8% (3/78, 95% CI 0.8%–10.8%) for RATs and 19.1% (13/68, 95% CI 10.6%–30.5%) for SIs. If fetuses with structural anomalies were also counted as true‐positive cases, the PPV for RATS increased to 8.5% (7/82, 95% CI 3.5%–16.8%). Among 85 discordant cases with birth outcomes available (65.4%), discordant positive RATs had a significantly higher proportion of infants born below the 10th and 3rd birthweight percentiles than expected (19.6% (p = 0.022) and 9.8% (p = 0.004), respectively), which was not observed in the SI group (2.9% < 10th (p = 0.168) and 0.0% <3rd (p = 0.305)). CONCLUSION: The PPVs for SI and RAT results are low, except when a structural abnormality is also present. Discordant positive RATs are associated with growth restriction. John Wiley and Sons Inc. 2022-09-22 2022-10 /pmc/articles/PMC9826090/ /pubmed/36068932 http://dx.doi.org/10.1002/pd.6233 Text en © 2022 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Raymond, Yvette C.
Fernando, Shavi
Menezes, Melody
Meagher, Simon
Mol, Ben W.
McLennan, Andrew
Scott, Fergus
Mizia, Karen
Carey, Karen
Fleming, Gabrielle
Rolnik, Daniel Lorber
Cell‐free DNA screening for rare autosomal trisomies and segmental chromosome imbalances
title Cell‐free DNA screening for rare autosomal trisomies and segmental chromosome imbalances
title_full Cell‐free DNA screening for rare autosomal trisomies and segmental chromosome imbalances
title_fullStr Cell‐free DNA screening for rare autosomal trisomies and segmental chromosome imbalances
title_full_unstemmed Cell‐free DNA screening for rare autosomal trisomies and segmental chromosome imbalances
title_short Cell‐free DNA screening for rare autosomal trisomies and segmental chromosome imbalances
title_sort cell‐free dna screening for rare autosomal trisomies and segmental chromosome imbalances
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9826090/
https://www.ncbi.nlm.nih.gov/pubmed/36068932
http://dx.doi.org/10.1002/pd.6233
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