Department of Dermatology, SUNY Downstate, Brooklyn, NY 11203, USA.
Int J Dermatol. 2010 Apr;49(4):353-61. doi: 10.1111/j.1365-4632.2010.04344.x.
The genodermatoses encompass a range of inheritable skin diseases that may be associated with significant mortality and long-term morbidity. In the past, options for prenatal diagnosis of these diseases were limited to fetal skin biopsy. As a result of recent leaps made in genetics and molecular biology, DNA-based prenatal diagnosis is now available for an increasing number of genodermatoses, and newer non-invasive methods are being developed that have the potential for tremendous future impact in dermatology. Dermatologists caring for patients with genodermatoses should be aware of the options for screening and prenatal testing and partake in a multi-disciplinary approach to patient care.
遗传性皮肤病包括一系列遗传性皮肤疾病，这些疾病可能与高死亡率和长期发病有关。过去，这些疾病的产前诊断选择仅限于胎儿皮肤活检。由于遗传学和分子生物学的最新飞跃，现在越来越多的遗传性皮肤病可以进行基于 DNA 的产前诊断，并且正在开发新的非侵入性方法，这些方法有可能在皮肤病学领域产生巨大的未来影响。治疗遗传性皮肤病患者的皮肤科医生应该了解筛查和产前检查的选择，并参与多学科的患者护理方法。
