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Purpose of Review <p>Neurofibromatosis (NF) refers to a group of genetic conditions predisposing to the development of tumors of the nervous system. Neurofibromatosis type 1 (NF1) is the most common of these conditions with variable impact on health risks in the prenatal, peripartum, and postpartum periods. Neurofibromatosis type 2 (NF2) has distinct clinical manifestations and pregnancy-related considerations, with some overlap between the two conditions. This review guides the clinician about reproductive management of individuals with NF1 and NF2, focusing on genetic counseling, antenatal, labor and postnatal care.</p> Recent Findings <p>Recent literature regarding risks of NF1 in pregnancy suggests more favorable outcomes than previously documented. NF1 is a broad vascular risk-factor, with a clear association between NF1 and risk for hypertensive disorders of pregnancy. Similar, though attenuated risks seem to apply to NF2 from the limited available data. Patients with a diagnosis of NF1 should be managed as high risk for hypertensive disorders of pregnancy including gestational hypertension and preeclampsia. In addition to these obstetric-specific risks, management of lesion progression in NF1 and 2 during pregnancy is challenging, as non-surgical therapies have limited pregnancy-safety data. Underlying the obstetric management recommendations is the importance of access to preconception and prenatal genetic testing, which is complex due to the potential for mosaicism and variable expressivity in the NF genes.</p> Summary <p>Prenatal and antenatal care of individuals with NF1 and 2 requires careful consideration of the risks associated with neurofibroma formation, progression and malignant transformation. In addition to these risks, NF1 is a significant cardiovascular risk factor with a clear increase in risks for hypertensive disorders of pregnancy. With appropriate counseling and follow up, most individuals with neurofibromatosis will have uncomplicated, term pregnancies without expectation for worsening, long-term disease outcomes. Future research should focus on appropriate mitigation strategies for these known risks including best strategies for anti-hypertensive and aspirin therapy.</p>

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Preconception and Pregnancy Considerations for the Patient with Neurofibromatosis

  • 期刊论文

  • 发表日期：

    2025年9月6日

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  • Megan E. Bunnell,
  • Neha Bhatia

摘要

Purpose of Review

Neurofibromatosis (NF) refers to a group of genetic conditions predisposing to the development of tumors of the nervous system. Neurofibromatosis type 1 (NF1) is the most common of these conditions with variable impact on health risks in the prenatal, peripartum, and postpartum periods. Neurofibromatosis type 2 (NF2) has distinct clinical manifestations and pregnancy-related considerations, with some overlap between the two conditions. This review guides the clinician about reproductive management of individuals with NF1 and NF2, focusing on genetic counseling, antenatal, labor and postnatal care.

Recent Findings

Recent literature regarding risks of NF1 in pregnancy suggests more favorable outcomes than previously documented. NF1 is a broad vascular risk-factor, with a clear association between NF1 and risk for hypertensive disorders of pregnancy. Similar, though attenuated risks seem to apply to NF2 from the limited available data. Patients with a diagnosis of NF1 should be managed as high risk for hypertensive disorders of pregnancy including gestational hypertension and preeclampsia. In addition to these obstetric-specific risks, management of lesion progression in NF1 and 2 during pregnancy is challenging, as non-surgical therapies have limited pregnancy-safety data. Underlying the obstetric management recommendations is the importance of access to preconception and prenatal genetic testing, which is complex due to the potential for mosaicism and variable expressivity in the NF genes.

Summary

Prenatal and antenatal care of individuals with NF1 and 2 requires careful consideration of the risks associated with neurofibroma formation, progression and malignant transformation. In addition to these risks, NF1 is a significant cardiovascular risk factor with a clear increase in risks for hypertensive disorders of pregnancy. With appropriate counseling and follow up, most individuals with neurofibromatosis will have uncomplicated, term pregnancies without expectation for worsening, long-term disease outcomes. Future research should focus on appropriate mitigation strategies for these known risks including best strategies for anti-hypertensive and aspirin therapy.