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Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies
Atypical fetal chromosomal anomalies are more frequent than previously recognized and can affect fetal development. We propose a screening strategy for a genome-wide non-invasive prenatal test (NIPT) to detect these atypical chromosomal anomalies (ACAs). Two sample cohorts were tested. Assay perform...
Autores principales: | , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7464024/ https://www.ncbi.nlm.nih.gov/pubmed/32752152 http://dx.doi.org/10.3390/jcm9082466 |
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author | Kleinfinger, Pascale Lohmann, Laurence Luscan, Armelle Trost, Detlef Bidat, Laurent Debarge, Véronique Castaigne, Vanina Senat, Marie-Victoire Brechard, Marie-Pierre Guilbaud, Lucie Le Guyader, Gwenaël Satre, Véronique Laurichesse Delmas, Hélène Lallaoui, Hakima Manca-Pellissier, Marie-Christine Boughalem, Aicha Valduga, Mylene Hodeib, Farah Benachi, Alexandra Costa, Jean Marc |
author_facet | Kleinfinger, Pascale Lohmann, Laurence Luscan, Armelle Trost, Detlef Bidat, Laurent Debarge, Véronique Castaigne, Vanina Senat, Marie-Victoire Brechard, Marie-Pierre Guilbaud, Lucie Le Guyader, Gwenaël Satre, Véronique Laurichesse Delmas, Hélène Lallaoui, Hakima Manca-Pellissier, Marie-Christine Boughalem, Aicha Valduga, Mylene Hodeib, Farah Benachi, Alexandra Costa, Jean Marc |
author_sort | Kleinfinger, Pascale |
collection | PubMed |
description | Atypical fetal chromosomal anomalies are more frequent than previously recognized and can affect fetal development. We propose a screening strategy for a genome-wide non-invasive prenatal test (NIPT) to detect these atypical chromosomal anomalies (ACAs). Two sample cohorts were tested. Assay performances were determined using Cohort A, which consisted of 192 biobanked plasma samples—42 with ACAs, and 150 without. The rate of additional invasive diagnostic procedures was determined using Cohort B, which consisted of 3097 pregnant women referred for routine NIPT. Of the 192 samples in Cohort A, there were four initial test failures and six discordant calls; overall sensitivity was 88.1% (37/42; CI 75.00–94.81) and specificity was 99.3% (145/146; CI 96.22–99.88). In Cohort B, there were 90 first-pass failures (2.9%). The rate of positive results indicating an anomaly was 1.2% (36/3007) and 0.57% (17/3007) when limited to significant unbalanced chromosomal anomalies and trisomies 8, 9, 12, 14, 15, 16, and 22. These results show that genome-wide NIPT can screen for ACAs with an acceptable sensitivity and a small increase in invasive testing, particularly for women with increased risk following maternal serum screening and by limiting screening to structural anomalies and the most clinically meaningful trisomies. |
format | Online Article Text |
id | pubmed-7464024 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-74640242020-09-04 Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies Kleinfinger, Pascale Lohmann, Laurence Luscan, Armelle Trost, Detlef Bidat, Laurent Debarge, Véronique Castaigne, Vanina Senat, Marie-Victoire Brechard, Marie-Pierre Guilbaud, Lucie Le Guyader, Gwenaël Satre, Véronique Laurichesse Delmas, Hélène Lallaoui, Hakima Manca-Pellissier, Marie-Christine Boughalem, Aicha Valduga, Mylene Hodeib, Farah Benachi, Alexandra Costa, Jean Marc J Clin Med Article Atypical fetal chromosomal anomalies are more frequent than previously recognized and can affect fetal development. We propose a screening strategy for a genome-wide non-invasive prenatal test (NIPT) to detect these atypical chromosomal anomalies (ACAs). Two sample cohorts were tested. Assay performances were determined using Cohort A, which consisted of 192 biobanked plasma samples—42 with ACAs, and 150 without. The rate of additional invasive diagnostic procedures was determined using Cohort B, which consisted of 3097 pregnant women referred for routine NIPT. Of the 192 samples in Cohort A, there were four initial test failures and six discordant calls; overall sensitivity was 88.1% (37/42; CI 75.00–94.81) and specificity was 99.3% (145/146; CI 96.22–99.88). In Cohort B, there were 90 first-pass failures (2.9%). The rate of positive results indicating an anomaly was 1.2% (36/3007) and 0.57% (17/3007) when limited to significant unbalanced chromosomal anomalies and trisomies 8, 9, 12, 14, 15, 16, and 22. These results show that genome-wide NIPT can screen for ACAs with an acceptable sensitivity and a small increase in invasive testing, particularly for women with increased risk following maternal serum screening and by limiting screening to structural anomalies and the most clinically meaningful trisomies. MDPI 2020-08-01 /pmc/articles/PMC7464024/ /pubmed/32752152 http://dx.doi.org/10.3390/jcm9082466 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Kleinfinger, Pascale Lohmann, Laurence Luscan, Armelle Trost, Detlef Bidat, Laurent Debarge, Véronique Castaigne, Vanina Senat, Marie-Victoire Brechard, Marie-Pierre Guilbaud, Lucie Le Guyader, Gwenaël Satre, Véronique Laurichesse Delmas, Hélène Lallaoui, Hakima Manca-Pellissier, Marie-Christine Boughalem, Aicha Valduga, Mylene Hodeib, Farah Benachi, Alexandra Costa, Jean Marc Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies |
title | Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies |
title_full | Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies |
title_fullStr | Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies |
title_full_unstemmed | Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies |
title_short | Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies |
title_sort | strategy for use of genome-wide non-invasive prenatal testing for rare autosomal aneuploidies and unbalanced structural chromosomal anomalies |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7464024/ https://www.ncbi.nlm.nih.gov/pubmed/32752152 http://dx.doi.org/10.3390/jcm9082466 |
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