AB110. The first prenatal diagnosis of von Hippel-Lindau syndrome in Chinese mainland

Objective: Von Hippel-Lindau (VHL) syndrome is an autosomal dominantly inherited familial cancer syndrome caused by germline mutations in VHL tumor suppressor gene. It is characterized by multisystem neoplastic disorder which cannot be cured radically now, and the gold diagnosis standard is the genetic test of VHL gene. The purpose of this study is to explore the feasibility of applying VHL gene detesting technology combined with short tandem repeats analysis to finish the prenatal diagnosis of VHL syndrome.

Methods: This was the first pregnancy of a 30-year-old woman diagnosed with VHL syndrome 2 years ago. At 20 weeks of gestation, the woman underwent amniocentesis. We apply VHL gene detesting technology (PCR-direct sequencing and universal primer quantitative fluorescent multiplex PCR) combined with short tandem repeats analysis to test the fetal DNA in amniotic fluid.

Results: Under the premise of excluding maternal cells pollution by short tandem repeats analysis, fetal VHL gene analysis detected c.499C>T p.Arg167Trp mutation as the same as the mother.

Conclusions: We finished the first prenatal diagnosis of VHL syndrome in Chinese mainland. Combining VHL gene detesting technology with short tandem repeats analysis can be used to finish the prenatal diagnosis of VHL syndrome.

Keywords: Von Hippel-Lindau (VHL); prenatal diagnosis