International Journal of Research and Reports in Gynaecology

Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant multisystem disorder that may complicate pregnancy through maternal vascular disease and adverse fetal outcomes.

Aim: This case report seeks to highlight the challenges associated with managing pregnancy in women with NF1 and to emphasise the importance of multidisciplinary care in optimising maternal and neonatal outcomes.

Case Presentation: We report the case of a 31-year-old woman, gravida 2 para 0, with one previous first-trimester miscarriage, chronic hypertension, and NF1. Despite treatment with multiple antihypertensive agents, she developed superimposed preeclampsia with extremely high 24-hour urine protein of 12290, progressive renal impairment, and severe fetal growth restriction of less than the 3rd percentile. During hospitalisation, worsening maternal condition and a non-reassuring fetal heart rate tracing prompted emergency caesarean delivery at 32+2 weeks of gestation, resulting in the birth of a live preterm infant.

Discussion: NF1 is a multisystem disorder inherited in an autosomal dominant fashion due to mutations in the NF1 tumour suppressor gene on chromosome 17. Pregnant women with this condition may develop worsening symptoms owing to the hormonal changes of pregnancy, while NF1 itself increases the risk of adverse obstetric outcomes, including fetal growth restriction, early pregnancy loss, preterm delivery, and stillbirth, as well as maternal complications such as hypertension, preeclampsia, and cerebrovascular disease. Careful maternal surveillance and serial fetal assessment are therefore essential.

Conclusion: Pregnant women with NF1 should receive coordinated multidisciplinary care throughout pregnancy. Early recognition of maternal and fetal complications and timely delivery are critical for improving outcomes.