Year: 2024
Type: conference-abstract
Abstract: Prenatal assessment of complex brain malformations requires a multidisciplinary team comprising Fetal Medicine specialists, Pediatric Neurologists, and Geneticists. Neurosonography, genetic tests and MRI are commonly used for the assessment of prospective parents. Family-based exome sequencing (TRIO: both progenitors and children) is often offered to enhance the diagnostic yield of exome findings. We postulated that targeted magnetic resonance on one or both of the progenitors could contribute to refining the diagnosis in cases of brain anomalies with an uncertain prognosis. We present a single-centre retrospective case series wherein magnetic resonance imaging was conducted on at least one of the parents. Results were proven to be relevant for prenatal counselling in 5 cases, with a definitive diagnosis reached in 3: one case of periventricular nodular heterotopia, one case of mild tubulinopathy, and one case of dynein-associated neurodevelopmental disorder. Median GA at patient referral was 28.3 weeks (range, 20.7 to 34.9), and neurosonogram findings were inconclusive in all cases. Exome sequencing in amniotic fluid was carried out for all cases. Fetal MRI was performed at a median GA of 34.4 weeks (range, 29.3 to 35.7), confirming the ultrasound diagnosis in all cases, and providing substantial additional information in two cases (2/7, 28.6%). Parental MRI findings were concordant with fetal MRI findings 71.4% (5/7 cases). In conclusion, TRIO-MRI, involving both progenitors and the fetus, can play a significant role in the prenatal diagnosis of selected brain anomalies with an uncertain prognosis. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
DOI: 10.1002/uog.28128
Institution: Vall d'Hebron Hospital Universitari
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4402360136