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Efficacy of Systematic Early-Second-Trimester Ultrasound Screening for Facial Anomalies: A Comparison between Prenatal Ultrasound and Postmortem Findings

Second-trimester 2D ultrasound (US) assessment of the fetal anatomy, as proposed by worldwide guidelines, allows detecting the majority of fetal malformation. However, the detection rates of fetal facial anomalies seem to still be low, mostly in cases of isolated facial malformation. The purpose of...

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Autores principales: Lamanna, Bruno, Dellino, Miriam, Cascardi, Eliano, Rooke-Ley, Mia, Vinciguerra, Marina, Cazzato, Gerardo, Malvasi, Antonio, Vitagliano, Amerigo, Nicolì, Pierpaolo, Di Cosola, Michele, Ballini, Andrea, Cicinelli, Ettore, Vimercati, Antonella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10455370/
https://www.ncbi.nlm.nih.gov/pubmed/37629409
http://dx.doi.org/10.3390/jcm12165365
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author Lamanna, Bruno
Dellino, Miriam
Cascardi, Eliano
Rooke-Ley, Mia
Vinciguerra, Marina
Cazzato, Gerardo
Malvasi, Antonio
Vitagliano, Amerigo
Nicolì, Pierpaolo
Di Cosola, Michele
Ballini, Andrea
Cicinelli, Ettore
Vimercati, Antonella
author_facet Lamanna, Bruno
Dellino, Miriam
Cascardi, Eliano
Rooke-Ley, Mia
Vinciguerra, Marina
Cazzato, Gerardo
Malvasi, Antonio
Vitagliano, Amerigo
Nicolì, Pierpaolo
Di Cosola, Michele
Ballini, Andrea
Cicinelli, Ettore
Vimercati, Antonella
author_sort Lamanna, Bruno
collection PubMed
description Second-trimester 2D ultrasound (US) assessment of the fetal anatomy, as proposed by worldwide guidelines, allows detecting the majority of fetal malformation. However, the detection rates of fetal facial anomalies seem to still be low, mostly in cases of isolated facial malformation. The purpose of this research was to assess and analyze the concordance between the antenatal imaging findings from second-trimester US screening and the results of fetal postmortem autopsy. Between January 2010 and January 2020, there were 43 cases where fetuses with prenatal ultrasound diagnosis of a face abnormality, associated or not with a genetic syndrome or chromosomal disorder, following intrauterine death (IUD) or termination of pregnancy (TOP) after the 13 weeks of pregnancy, underwent autopsy in the Pathological Anatomy section of Bari Polyclinic specializing in feto-placental autopsies. The diagnosis of the fetal facial defects at ultrasound was compared with the findings at autopsy in all cases. A very high level of agreement between prenatal ultrasound and autopsy findings was found for facial abnormalities associated with genetic syndromes or numerical abnormality of chromosomes. A lower level of concordance was instead found in isolated facial defects or those associated with other organ anomalies, but not associated with genetic syndrome or numerical chromosome anomaly. A detailed examination of aborted fetuses led to successful quality control of early-second-trimester ultrasound detection of facial anomalies; however, it was less accurate for the isolated ones. It is, thus, reasonable to propose a systematic early-second-trimester prenatal ultrasound screening for facial anatomy by operators specialized in fetal medicine field, using 2D, 3D, and 4D techniques (two-, three-, and four-dimensional ultrasound).
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spelling pubmed-104553702023-08-26 Efficacy of Systematic Early-Second-Trimester Ultrasound Screening for Facial Anomalies: A Comparison between Prenatal Ultrasound and Postmortem Findings Lamanna, Bruno Dellino, Miriam Cascardi, Eliano Rooke-Ley, Mia Vinciguerra, Marina Cazzato, Gerardo Malvasi, Antonio Vitagliano, Amerigo Nicolì, Pierpaolo Di Cosola, Michele Ballini, Andrea Cicinelli, Ettore Vimercati, Antonella J Clin Med Article Second-trimester 2D ultrasound (US) assessment of the fetal anatomy, as proposed by worldwide guidelines, allows detecting the majority of fetal malformation. However, the detection rates of fetal facial anomalies seem to still be low, mostly in cases of isolated facial malformation. The purpose of this research was to assess and analyze the concordance between the antenatal imaging findings from second-trimester US screening and the results of fetal postmortem autopsy. Between January 2010 and January 2020, there were 43 cases where fetuses with prenatal ultrasound diagnosis of a face abnormality, associated or not with a genetic syndrome or chromosomal disorder, following intrauterine death (IUD) or termination of pregnancy (TOP) after the 13 weeks of pregnancy, underwent autopsy in the Pathological Anatomy section of Bari Polyclinic specializing in feto-placental autopsies. The diagnosis of the fetal facial defects at ultrasound was compared with the findings at autopsy in all cases. A very high level of agreement between prenatal ultrasound and autopsy findings was found for facial abnormalities associated with genetic syndromes or numerical abnormality of chromosomes. A lower level of concordance was instead found in isolated facial defects or those associated with other organ anomalies, but not associated with genetic syndrome or numerical chromosome anomaly. A detailed examination of aborted fetuses led to successful quality control of early-second-trimester ultrasound detection of facial anomalies; however, it was less accurate for the isolated ones. It is, thus, reasonable to propose a systematic early-second-trimester prenatal ultrasound screening for facial anatomy by operators specialized in fetal medicine field, using 2D, 3D, and 4D techniques (two-, three-, and four-dimensional ultrasound). MDPI 2023-08-18 /pmc/articles/PMC10455370/ /pubmed/37629409 http://dx.doi.org/10.3390/jcm12165365 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/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 (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Lamanna, Bruno
Dellino, Miriam
Cascardi, Eliano
Rooke-Ley, Mia
Vinciguerra, Marina
Cazzato, Gerardo
Malvasi, Antonio
Vitagliano, Amerigo
Nicolì, Pierpaolo
Di Cosola, Michele
Ballini, Andrea
Cicinelli, Ettore
Vimercati, Antonella
Efficacy of Systematic Early-Second-Trimester Ultrasound Screening for Facial Anomalies: A Comparison between Prenatal Ultrasound and Postmortem Findings
title Efficacy of Systematic Early-Second-Trimester Ultrasound Screening for Facial Anomalies: A Comparison between Prenatal Ultrasound and Postmortem Findings
title_full Efficacy of Systematic Early-Second-Trimester Ultrasound Screening for Facial Anomalies: A Comparison between Prenatal Ultrasound and Postmortem Findings
title_fullStr Efficacy of Systematic Early-Second-Trimester Ultrasound Screening for Facial Anomalies: A Comparison between Prenatal Ultrasound and Postmortem Findings
title_full_unstemmed Efficacy of Systematic Early-Second-Trimester Ultrasound Screening for Facial Anomalies: A Comparison between Prenatal Ultrasound and Postmortem Findings
title_short Efficacy of Systematic Early-Second-Trimester Ultrasound Screening for Facial Anomalies: A Comparison between Prenatal Ultrasound and Postmortem Findings
title_sort efficacy of systematic early-second-trimester ultrasound screening for facial anomalies: a comparison between prenatal ultrasound and postmortem findings
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10455370/
https://www.ncbi.nlm.nih.gov/pubmed/37629409
http://dx.doi.org/10.3390/jcm12165365
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