Cargando…
Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes
Cell-free (cf) DNA screening is a noninvasive prenatal screening approach that is typically used to screen for common fetal trisomies, with optional screening for sex chromosomal aneuploidies and fetal sex. Genome-wide cfDNA screening can screen for a wide variety of additional anomalies, including...
Autores principales: | , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9465083/ https://www.ncbi.nlm.nih.gov/pubmed/36105088 http://dx.doi.org/10.3389/fgene.2022.975987 |
_version_ | 1784787713652686848 |
---|---|
author | Mossfield, Tamara Soster, Erica Menezes, Melody Agenbag, Gloudi Dubois, Marie-Line Gekas, Jean Hardy, Tristan Jurkowska, Monika Kleinfinger, Pascale Loggenberg, Kelly Marchili, Pablo Sirica, Roberto |
author_facet | Mossfield, Tamara Soster, Erica Menezes, Melody Agenbag, Gloudi Dubois, Marie-Line Gekas, Jean Hardy, Tristan Jurkowska, Monika Kleinfinger, Pascale Loggenberg, Kelly Marchili, Pablo Sirica, Roberto |
author_sort | Mossfield, Tamara |
collection | PubMed |
description | Cell-free (cf) DNA screening is a noninvasive prenatal screening approach that is typically used to screen for common fetal trisomies, with optional screening for sex chromosomal aneuploidies and fetal sex. Genome-wide cfDNA screening can screen for a wide variety of additional anomalies, including rare autosomal aneuploidies (RAAs) and copy number variants. Here, we describe a multi-cohort, global retrospective study that looked at the clinical outcomes of cases with a high-risk cfDNA screening result for a RAA. Our study cohort included a total of 109 cases from five different sites, with diagnostic outcome information available for 68% (74/109) of patients. Based on confirmatory diagnostic testing, we found a concordance rate of 20.3% for presence of a RAA (15/74) in our study population. Pregnancy outcome was also available for 77% (84/109) of cases in our cohort. Many of the patients experienced adverse pregnancy outcomes, including intrauterine fetal demise, fetal growth restriction, and preterm birth. These adverse outcomes were observed both in patients with fetal or placental confirmation of the presence of a RAA, as well as patients that did not undergo fetal and/or placental diagnostic testing. In addition, we have proposed some suggestions for pregnancy management and counseling considerations for situations where a RAA is noted on a cfDNA screen. In conclusion, our study has shown that genome-wide cfDNA screening for the presence of rare autosomal aneuploidies can be beneficial for both patients and their healthcare practitioners. This can provide a possible explanation for an adverse pregnancy outcome or result in a change in pregnancy management, such as increased monitoring for adverse outcomes. |
format | Online Article Text |
id | pubmed-9465083 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-94650832022-09-13 Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes Mossfield, Tamara Soster, Erica Menezes, Melody Agenbag, Gloudi Dubois, Marie-Line Gekas, Jean Hardy, Tristan Jurkowska, Monika Kleinfinger, Pascale Loggenberg, Kelly Marchili, Pablo Sirica, Roberto Front Genet Genetics Cell-free (cf) DNA screening is a noninvasive prenatal screening approach that is typically used to screen for common fetal trisomies, with optional screening for sex chromosomal aneuploidies and fetal sex. Genome-wide cfDNA screening can screen for a wide variety of additional anomalies, including rare autosomal aneuploidies (RAAs) and copy number variants. Here, we describe a multi-cohort, global retrospective study that looked at the clinical outcomes of cases with a high-risk cfDNA screening result for a RAA. Our study cohort included a total of 109 cases from five different sites, with diagnostic outcome information available for 68% (74/109) of patients. Based on confirmatory diagnostic testing, we found a concordance rate of 20.3% for presence of a RAA (15/74) in our study population. Pregnancy outcome was also available for 77% (84/109) of cases in our cohort. Many of the patients experienced adverse pregnancy outcomes, including intrauterine fetal demise, fetal growth restriction, and preterm birth. These adverse outcomes were observed both in patients with fetal or placental confirmation of the presence of a RAA, as well as patients that did not undergo fetal and/or placental diagnostic testing. In addition, we have proposed some suggestions for pregnancy management and counseling considerations for situations where a RAA is noted on a cfDNA screen. In conclusion, our study has shown that genome-wide cfDNA screening for the presence of rare autosomal aneuploidies can be beneficial for both patients and their healthcare practitioners. This can provide a possible explanation for an adverse pregnancy outcome or result in a change in pregnancy management, such as increased monitoring for adverse outcomes. Frontiers Media S.A. 2022-08-29 /pmc/articles/PMC9465083/ /pubmed/36105088 http://dx.doi.org/10.3389/fgene.2022.975987 Text en Copyright © 2022 Mossfield, Soster, Menezes, Agenbag, Dubois, Gekas, Hardy, Jurkowska, Kleinfinger, Loggenberg, Marchili and Sirica. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Mossfield, Tamara Soster, Erica Menezes, Melody Agenbag, Gloudi Dubois, Marie-Line Gekas, Jean Hardy, Tristan Jurkowska, Monika Kleinfinger, Pascale Loggenberg, Kelly Marchili, Pablo Sirica, Roberto Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes |
title | Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes |
title_full | Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes |
title_fullStr | Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes |
title_full_unstemmed | Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes |
title_short | Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes |
title_sort | multisite assessment of the impact of cell-free dna-based screening for rare autosomal aneuploidies on pregnancy management and outcomes |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9465083/ https://www.ncbi.nlm.nih.gov/pubmed/36105088 http://dx.doi.org/10.3389/fgene.2022.975987 |
work_keys_str_mv | AT mossfieldtamara multisiteassessmentoftheimpactofcellfreednabasedscreeningforrareautosomalaneuploidiesonpregnancymanagementandoutcomes AT sostererica multisiteassessmentoftheimpactofcellfreednabasedscreeningforrareautosomalaneuploidiesonpregnancymanagementandoutcomes AT menezesmelody multisiteassessmentoftheimpactofcellfreednabasedscreeningforrareautosomalaneuploidiesonpregnancymanagementandoutcomes AT agenbaggloudi multisiteassessmentoftheimpactofcellfreednabasedscreeningforrareautosomalaneuploidiesonpregnancymanagementandoutcomes AT duboismarieline multisiteassessmentoftheimpactofcellfreednabasedscreeningforrareautosomalaneuploidiesonpregnancymanagementandoutcomes AT gekasjean multisiteassessmentoftheimpactofcellfreednabasedscreeningforrareautosomalaneuploidiesonpregnancymanagementandoutcomes AT hardytristan multisiteassessmentoftheimpactofcellfreednabasedscreeningforrareautosomalaneuploidiesonpregnancymanagementandoutcomes AT jurkowskamonika multisiteassessmentoftheimpactofcellfreednabasedscreeningforrareautosomalaneuploidiesonpregnancymanagementandoutcomes AT kleinfingerpascale multisiteassessmentoftheimpactofcellfreednabasedscreeningforrareautosomalaneuploidiesonpregnancymanagementandoutcomes AT loggenbergkelly multisiteassessmentoftheimpactofcellfreednabasedscreeningforrareautosomalaneuploidiesonpregnancymanagementandoutcomes AT marchilipablo multisiteassessmentoftheimpactofcellfreednabasedscreeningforrareautosomalaneuploidiesonpregnancymanagementandoutcomes AT siricaroberto multisiteassessmentoftheimpactofcellfreednabasedscreeningforrareautosomalaneuploidiesonpregnancymanagementandoutcomes AT multisiteassessmentoftheimpactofcellfreednabasedscreeningforrareautosomalaneuploidiesonpregnancymanagementandoutcomes |