Caring for the Pregnant Woman with Neurofibromatosis

By: Stephanie Louisse G. Hisole, BSN-2C Summary Neurofibromatosis (NF) is a common inherited single-gene disorder and a multisystem genetic disease with neurologic, cutaneous and orthopaedic manifestations. There are two types of NF and these are: (1) Type I or von Recklinghausen disease and (2) Type II. Type I or the von Recklinghausen disease is more prevalent than Type II since it occurs every 1 out of 3,000 to 4,000 persons. NF Type 1 has been identified on chromosome 17 containing a tumor gene, which regulates cell proliferation and mutation while NF Type II is identified on chromosome 22 which results to the inactivation of the tumor suppressor gene called merlin. According to Brickner (1906), NF that was first reported in obstetric literature was termed as fibroma moluscum contagiosum and noted that there is a possible effect to pregnancy. Pregnant woman with NF are treated as high-risk cases wherein a woman may experience vascular complications during pregnancy including hypertension and renal artery rupture. At the same time, she may experience increase in the number and size of neurofibromas, gliomas and other tumors. Because of this there is a higher rate of first semester spontaneous abortion, stillbirth and intrauterine growth restriction (IUGR) and other perinatal complications. There are no specific treatments for NF during pregnancy since it is genetically implanted but it still requires appropriate care. This care requires an interdisciplinary approach that might include referral to a tertiary center for high risk-antepartum and intrapartum care. Furthermore, pregnant woman with NF may be required with: (a) maternal fetal medicine, (b), perinatal CNS, (c) high risk obstetrical nurses, (d) neuroscience CNS and other more. Reaction As what I have learned from our discussion about genetic disorders, these disorders are highly unresolved and untreated since it is within our genes. There are no possible cures to these but may still require care in order to relieve any pain and complications associated with it. However, the relief would only be minimal and in only a short period of time. In Neurofibramatosis (NF), the only solution or treatment for a pregnant woman is to deliberately have a therapeutic abortion so that the child wont suffer any of the possible symptoms of Neurofibromatosis. There are other solutions like having a genetic counselling before getting pregnant. But if a pregnant woman really wants to continue her pregnancy, then its her risk and also her babys risk.