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Parental or Trio Magnetic Resonance Imaging to Improve Prenatal Counseling in Brain Anomalies

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Title: Parental or Trio Magnetic Resonance Imaging to Improve Prenatal Counseling in Brain Anomalies
Authors: Carlota Rodó, Nerea Maiz, Élida Vázquez, David Gómez‐Andrés, Irene Valenzuela, Anna Abulí, Elena Carreras
Contributors: Institut Català de la Salut, [Rodó C, Maiz N, Carreras E] Unitat de Medicina Fetal, Servei d’Obstetrícia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca en Medicina Materna i Fetal, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Vázquez É] Servei de Radiologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Gómez‐Andrés D] Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Valenzuela I, Abulí A] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
Source: Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Publisher Information: Wiley, 2024.
Publication Year: 2024
Subject Terms: Adult, Parents, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas diagnósticas obstétricas y ginecológicas::diagnóstico prenatal, Diagnòstic prenatal, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::diagnóstico por imagen::tomografía::imagen por resonancia magnética, Brain, Genetic Counseling, Gestational Age, Otros calificadores::Otros calificadores::Otros calificadores::Otros calificadores::/anomalías, Magnetic Resonance Imaging, ANATOMY::Nervous System::Central Nervous System::Brain, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Techniques, Obstetrical and Gynecological::Prenatal Diagnosis, Cervell - Imatgeria per ressonància magnètica, Pregnancy, Prenatal Diagnosis, Fetus - Cervell - Malformacions, Humans, Female, ANATOMÍA::sistema nervioso::sistema nervioso central::encéfalo, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Imaging::Tomography::Magnetic Resonance Imaging, Other subheadings::Other subheadings::Other subheadings::Other subheadings::/abnormalities, Retrospective Studies
Description: ObjectiveTo assess whether targeted magnetic resonance of one or both of the progenitors could refine the diagnosis in cases of fetal brain anomalies with uncertain prognosis.MethodsSingle‐center retrospective case series, where targeted magnetic resonance was performed on one or both of progenitors after a suspicion of fetal complex brain anomalies, and prognosis was unclear based solely on fetal tests (neurosonogram, fetal magnetic resonance, and genetic testing).ResultsSeven women were included. Results were relevant for prenatal counseling in five cases, with a definitive diagnosis in three: one periventricular nodular heterotopia, one mild tubulinopathy, and one dynein‐associated neurodevelopmental disorder. Median gestational age at referral was 28.3 weeks (range, 20.7–34.9). Neurosonogram findings were inconclusive in all cases. Exome sequencing in amniotic fluid was conducted for all cases. Fetal magnetic resonance was performed at a median gestational age of 34.4 weeks (range, 29.3–35.7), confirming ultrasound diagnosis in all cases, and providing substantial additional information in two (2/7, 28.6%). Parental magnetic resonance findings aligned with fetal findings in 5/7 cases (71.4%).ConclusionDUO or TRIO magnetic resonance, involving both progenitors and the fetus, could play a significant role in prenatal diagnosis of selected brain anomalies with uncertain prognosis.
Document Type: Article
File Description: application/pdf
Language: English
ISSN: 1097-0223
0197-3851
DOI: 10.1002/pd.6653
Access URL: https://pubmed.ncbi.nlm.nih.gov/39304976
https://hdl.handle.net/11351/12249
Rights: CC BY NC ND
Accession Number: edsair.doi.dedup.....84223a4a061ba8b8a69494975f86d419
Database: OpenAIRE
Description
Abstract:ObjectiveTo assess whether targeted magnetic resonance of one or both of the progenitors could refine the diagnosis in cases of fetal brain anomalies with uncertain prognosis.MethodsSingle‐center retrospective case series, where targeted magnetic resonance was performed on one or both of progenitors after a suspicion of fetal complex brain anomalies, and prognosis was unclear based solely on fetal tests (neurosonogram, fetal magnetic resonance, and genetic testing).ResultsSeven women were included. Results were relevant for prenatal counseling in five cases, with a definitive diagnosis in three: one periventricular nodular heterotopia, one mild tubulinopathy, and one dynein‐associated neurodevelopmental disorder. Median gestational age at referral was 28.3 weeks (range, 20.7–34.9). Neurosonogram findings were inconclusive in all cases. Exome sequencing in amniotic fluid was conducted for all cases. Fetal magnetic resonance was performed at a median gestational age of 34.4 weeks (range, 29.3–35.7), confirming ultrasound diagnosis in all cases, and providing substantial additional information in two (2/7, 28.6%). Parental magnetic resonance findings aligned with fetal findings in 5/7 cases (71.4%).ConclusionDUO or TRIO magnetic resonance, involving both progenitors and the fetus, could play a significant role in prenatal diagnosis of selected brain anomalies with uncertain prognosis.
ISSN:10970223
01973851
DOI:10.1002/pd.6653