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Diagnostic value of fetal autopsy after early termination of pregnancy for fetal anomalies

BACKGROUND: In early terminations of pregnancy for fetal anomaly (TOPFA) without identified cytogenetic abnormality, a fetal autopsy is recommended for diagnostic purposes, to guide genetic counseling. Medical induction, which allows analysis of a complete fetus, is generally preferred over surgical...

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Autores principales: Peyronnet, Violaine, Anselem, Olivia, Loeuillet, Laurence, Roux, Nathalie, Tsatsaris, Vassilis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9581376/
https://www.ncbi.nlm.nih.gov/pubmed/36260644
http://dx.doi.org/10.1371/journal.pone.0275674
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author Peyronnet, Violaine
Anselem, Olivia
Loeuillet, Laurence
Roux, Nathalie
Tsatsaris, Vassilis
author_facet Peyronnet, Violaine
Anselem, Olivia
Loeuillet, Laurence
Roux, Nathalie
Tsatsaris, Vassilis
author_sort Peyronnet, Violaine
collection PubMed
description BACKGROUND: In early terminations of pregnancy for fetal anomaly (TOPFA) without identified cytogenetic abnormality, a fetal autopsy is recommended for diagnostic purposes, to guide genetic counseling. Medical induction, which allows analysis of a complete fetus, is generally preferred over surgical vacuum aspiration. Our objective was to assess the diagnostic value of fetal autopsies in these early terminations, relative to the first-trimester ultrasound, overall and by termination method. MATERIALS: For this retrospective study at the Port Royal Maternity Hospital, we identified all TOPFA performed from 11 weeks to 16 weeks diagnosed at the first-trimester ultrasound in cases with a normal karyotype. The principal endpoint was the additional value of the autopsy over /compared to the ultrasound and its impact on genetic counseling, globally and by termination method. The secondary objective was to compare the complication rate by method of termination. RESULTS: The study included 79 women during period of 2013–2017: 42 with terminations by medical induction and 37 by aspiration. Fetal autopsy found additional abnormalities in 54.4% of cases, more frequently after medical induction (77.5%) than after aspiration (21.4%, p < .01). Genetic counseling was modified in 20.6% of cases, more often after induction (32.5% vs 3.6%, p < .01). The length of stay was significantly longer and a secondary aspiration was required in 16,7% of case in the medical induction group (p < .01). CONCLUSION: Medically induced vaginal expulsion appears preferable and can change genetic counseling for subsequent pregnancies.
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spelling pubmed-95813762022-10-20 Diagnostic value of fetal autopsy after early termination of pregnancy for fetal anomalies Peyronnet, Violaine Anselem, Olivia Loeuillet, Laurence Roux, Nathalie Tsatsaris, Vassilis PLoS One Research Article BACKGROUND: In early terminations of pregnancy for fetal anomaly (TOPFA) without identified cytogenetic abnormality, a fetal autopsy is recommended for diagnostic purposes, to guide genetic counseling. Medical induction, which allows analysis of a complete fetus, is generally preferred over surgical vacuum aspiration. Our objective was to assess the diagnostic value of fetal autopsies in these early terminations, relative to the first-trimester ultrasound, overall and by termination method. MATERIALS: For this retrospective study at the Port Royal Maternity Hospital, we identified all TOPFA performed from 11 weeks to 16 weeks diagnosed at the first-trimester ultrasound in cases with a normal karyotype. The principal endpoint was the additional value of the autopsy over /compared to the ultrasound and its impact on genetic counseling, globally and by termination method. The secondary objective was to compare the complication rate by method of termination. RESULTS: The study included 79 women during period of 2013–2017: 42 with terminations by medical induction and 37 by aspiration. Fetal autopsy found additional abnormalities in 54.4% of cases, more frequently after medical induction (77.5%) than after aspiration (21.4%, p < .01). Genetic counseling was modified in 20.6% of cases, more often after induction (32.5% vs 3.6%, p < .01). The length of stay was significantly longer and a secondary aspiration was required in 16,7% of case in the medical induction group (p < .01). CONCLUSION: Medically induced vaginal expulsion appears preferable and can change genetic counseling for subsequent pregnancies. Public Library of Science 2022-10-19 /pmc/articles/PMC9581376/ /pubmed/36260644 http://dx.doi.org/10.1371/journal.pone.0275674 Text en © 2022 Peyronnet et al https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Peyronnet, Violaine
Anselem, Olivia
Loeuillet, Laurence
Roux, Nathalie
Tsatsaris, Vassilis
Diagnostic value of fetal autopsy after early termination of pregnancy for fetal anomalies
title Diagnostic value of fetal autopsy after early termination of pregnancy for fetal anomalies
title_full Diagnostic value of fetal autopsy after early termination of pregnancy for fetal anomalies
title_fullStr Diagnostic value of fetal autopsy after early termination of pregnancy for fetal anomalies
title_full_unstemmed Diagnostic value of fetal autopsy after early termination of pregnancy for fetal anomalies
title_short Diagnostic value of fetal autopsy after early termination of pregnancy for fetal anomalies
title_sort diagnostic value of fetal autopsy after early termination of pregnancy for fetal anomalies
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9581376/
https://www.ncbi.nlm.nih.gov/pubmed/36260644
http://dx.doi.org/10.1371/journal.pone.0275674
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