Purpose or Case Report: To evaluate the utility of fetal MRI and prenatal ultrasound in establishing an underlying cause in fetuses with suspected arthrogryposis.
Methods & Materials: All patients in our institution who underwent fetal MRI in search of a cause for prenatally suspected arthrogryposis (period 2013 to 2019) were included. Data collected included demographics, gestational age, delivery details and postnatal follow-up. The images were assessed for intracranial abnormalities, spinal cord abnormalities, non-central nervous system (CNS) abnormalities, distribution of contractures of the neck, upper limbs, lower limbs, and abnormal spinal curvature.
Results: 21 fetuses were included. Intracranial or spinal cord abnormalities were found in 10 fetuses (48%) and included a total of 14 CNS findings. These included one instance each of the following: agenesis of the corpus callosum (4.8 %), polymicrogyria (4.8%), closed lip schizencephaly (4.8 %), ventriculomegaly (4.8%), delayed cerebral gyration (4.8 %) and cerebellar hypoplasia (4.8%). There were also, periventricular cysts in two fetuses (9.5 %), microcephaly in two fetuses (9.5%) and low-lying cord in 4 fetuses (19%). Postnatal imaging was available to confirm 8/14 CNS findings. In one case of low-lying cord, a post-natal MRI of the spine did not confirm the finding. For the other 5 findings, no postnatal imaging was available due to termination of pregnancy, stillbirth or no follow-up performed in our hospital. Non CNS abnormalities were found in 15 of the 21 fetuses (71.4 %) including pulmonary hypoplasia, midface dysplasia, intrauterine growth restriction (IUGR), polyhydramnios, oligohydramnios, fetal akinesia and short long bones. One patient in our series had hydrops fetalis diagnosed on imaging. In two patients the umbilical cord was noted to be wrapped multiple times around a limb at time of delivery. In the 5 patients who had a distal pattern of arthrogryposis no cranial or spinal cord findings were identified on imaging.
Conclusions: Prenatal neuroimaging in search for a central neurological cause in fetuses presenting with arthrogryposis is useful, demonstrating a potential intracranial or spinal cord cause in 48% of patients. This is essential to allow parental counselling and prognostication as well as to plan postnatal treatment. It also allows evaluation for associated non CNS anomalies and complications such as hydrops fetalis.