Background
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with an incidence of 1:3000[1]. Literature on pregnancy and NF1 is limited, however evidence suggests increased risk of gestational hypertension, pre-eclampsia, intrauterine growth restriction, cardiovascular disease, preterm labour and caesarean delivery[2].
Aim
We discuss a case of neurofibromatosis type 1 in pregnancy.
Discussion
A nulliparous 25-year-old with NF1, known subcutaneous and plexiform mediastinal neurofibromas, and spinal fusion for thoracolumbar scoliosis was admitted to a tertiary centre after routine 28-week ultrasound revealed a shortened cervix. Care was co-ordinated by the Maternal Fetal service, and she was commenced on vaginal progesterone, administered steroids, monitored for symptoms secondary to her neurofibromas, and had spinal review by Anaesthetics. She was asymptomatic from her NF1 with no evidence of preterm labour and was discharged at 30/40 with regular outpatient follow-up.
Induction of labour at 38 weeks was planned due to recurrent decreased fetal movements and intermittent abnormal uterine dopplers. Despite progressing to full dilation, she required emergency caesarean section under general anaesthesia due to failed spinal anaesthesia. The delivery was complicated by 1700ml haemorrhage requiring transfusion. She remained stable and was discharged on day 3 with no change in her NF1 condition.
We highlight the vigilance and multidisciplinary approach necessary for decision making in rare conditions such as this case, with potential severe complications. The team approach enabled rapid management of complications with minimal maternal sequelae.