New research has found fetal MRI can reliably identify holoprosencephaly as early as 18 weeks into pregnancy, providing added time for parents to understand and prepare for the condition.
"Because of the strong link between the severity of brain abnormality and clinical outcomes, such early and accurate imaging is important for counseling families,” said lead author Youssef A. Kousa, PhD, a child neurology fellow at Children’s National Health System. “Our findings and our detailed descriptions of the differences between disease variants should help to inform these important conversations during complicated pregnancies."
In the study, published in the American Journal of Medical Genetics, researchers used advanced MRI protocol to show radiographic data consistent with diagnosing along the holoprosencephaly spectrum.
Ultrasound and fetal sonography have been shown to detect the brain malformation based on abnormal facial features, but these modalities not effective until 24 weeks—leaving little time for families to develop a care plan, authors wrote.
“Accurate prenatal evaluation is important because the severity of imaging findings correlates with postnatal morbidity and mortality in holoprosencephaly. ... [T]his work has implications for the evaluation, diagnosis, management and genetic counseling that families can receive during a pregnancy,” Kousa et al. wrote.