Pre-natal MRI monitoring allows for more timely initiation of life-saving treatment

Lead researcher

A/Prof. Dr. med. Alex Veldman, FRACP

Main finding

Molybdenum cofactor deficiency type A (MoCD-A) is an inborn error of metabolism presenting early after birth with severe seizures and early death in most cases. In 2008, life-saving experimental substitution treatment with cyclic pyranopterin monophosphate (cPMP) has been pioneered in Monash Newborn and more recently, Monash researchers and others reported the outcome of the first 11 children treated in The Lancet. Of note, a markedly improved long-term developmental outcome could be achieved if treatment is initiated before the development of significant encephalopathy.
This paper reports data of prenatal Magnetic Resonance Imaging (MRI) in two cases with MoCD-A demonstrating signs of possible early brain injury. In MoCD-A, the first signs of brain injury on neuroimaging might already occur during the last weeks of pregnancy, suggesting limitation of the proposed maternal protection through the placental clearance of neuro-toxic metabolites in the last trimester.


The Ritchie Centre

Research group

Monash Newborn


Dr Charlotte M.A. Lubout, Dr Terry G.J. Derks, Dr Linda Meiners, Dr Jan Jaap Erwich, Dr Klasien A. Bergman, Dr Roelineke J. Lunsing, Prof Guenter Schwarz, Prof Francjan J. van Spronsen

Journal and article title

Most surprising

Prenatal MRI in a fetus with MoCD-A shows that in some selected patients, first signs of brain injury might already occur during the last trimester of pregnancy. The mechanisms leading to the limitation in the placental clearance of neuro-toxic metabolites in some fetuses is not yet fully understood.

Future implications

cPMP is saving lives in patients with MoCD-A and prenatal MRI can be used for monitoring to guide decision-making in the optimal timing of delivery. Based on the findings of this paper, we advocate to monitor prenatally known MOCD-A patients with prenatal MRI, especially during the last trimester. We suggest weekly MRI starting from 32 weeks GA, to allow an informed risk-benefit consideration. Risks of a premature induction of labor, like infection, respiratory complications and effect on development, should be carefully weighed against the possible benefits of early treatment on neurodevelopmental outcomes.

Disease/health impact

Neonatology, Rare Inborn Errors of Metabolism, Obstetrics

Other points of interest

Link to the Lancet paper: