Parental magnetic resonance imaging for the evaluation of fetuses with brain anomalies

To evaluate the role of parental magnetic resonance imaging (MRI) in assessing fetuses with suspected brain anomalies and its use in prenatal counselling.

A retrospective, multicentre chart review was conducted on fetuses who underwent brain MRI because of suspected brain abnormalities between January 2008 and December 2022, with one or both parents who underwent brain MRI (MRI-Trio) as part of prenatal counselling. Clinical and demographic data were collected, including fetal and parental MRI findings, prenatal counselling outcomes, genetic testing results, family and previous pregnancy history, neurological examinations of the born children up to 24 months of age, and autopsy reports of fetuses from terminated pregnancies. MRI-Trio concordance was defined as at least one abnormal brain feature identified with similarity in the fetus and the parents. The live-born children were assessed postnatally through either neurodevelopmental evaluations or telephone interviews.

Sixty pregnancies were included (41.7% with concordant and 58.3% with discordant MRI-Trio). Forty-two children were born (70%) and 17 pregnancies were terminated (28.3%). One case of in utero fetal death (1.7%) was reported. The most common brain findings were multiple anomalies (n = 26, 43.3%), isolated disorders of the corpus callosum (n = 17, 28.3%), atypical periventricular pseudocysts (n = 6, 10%), and anomalies of the anterior complex (n = 4, 6.7%). MRI-Trio enabled better prognostication. When MRI-Trio was concordant, counselling was more favourable (n = 22, 36.6%) and the majority of live-born children exhibited typical development (p < 0.001).

MRI-Trio is a valuable tool for identifying dominantly inherited brain anomalies that may not hold developmental significance or are associated with favourable outcomes, acknowledging the potential for variable penetrance, which may result in more severe presentations. Concordant MRI-Trio findings can enhance the accuracy of prenatal counselling, potentially reducing the incidence of termination of pregnancy.