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

• Published in: Prenatal diagnosis Vol. 44; no. 12; pp. 1435 - 1443
• Main Authors: Rodó, Carlota, Maiz, Nerea, Vázquez, Élida, Gómez‐Andrés, David, Valenzuela, Irene, Abulí, Anna, Carreras, Elena
• Format: Journal Article
• Language: English
• Published: England Wiley Subscription Services, Inc 01.11.2024
• Subjects: Adult; Amniotic fluid; Anomalies; Brain; Brain - abnormalities; Brain - diagnostic imaging; Diagnosis; Dynein; Female; Fetuses; Genetic Counseling; Genetic screening; Gestational Age; Humans; Magnetic resonance imaging; Magnetic Resonance Imaging - methods; Neurodevelopmental disorders; Neuroimaging; Parents; Pregnancy; Prenatal diagnosis; Prenatal Diagnosis - methods; Prognosis; Retrospective Studies; Sequences; Ventricle (lateral); Whole genome sequencing; genetic counseling; prenatal ultrasonography; magnetic resonance imaging; exome; prenatal diagnosis
• ISSN: 0197-3851; 1097-0223; 1097-0223
• DOI: 10.1002/pd.6653

To 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. Single-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). Seven 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%). DUO 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.