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目的报道致死性骨发育不全的早期产前诊断方法,指导临床实践。方法在孕早期通过超声检查胎儿颈部透明层,在孕中期进行胎儿结构筛查,并用分子诊断技术确诊。结果孕早期诊断1例颈部透明层增厚病例,孕中期超声检查提示致死性骨发育不全I型表现,分子诊断证实为FGFR3基因c.742C>T(p.R248C)突变。结论致死性骨发育不全可以通过结合超声及分子技术早期产前诊断。
Objective To report early prenatal diagnosis of lethal aplastic anemia and guide clinical practice. Methods In the first trimester of pregnancy, the fetal cervical transparent layer was examined by ultrasonography. Fetal structure was screened in the second trimester and diagnosed by molecular diagnostic techniques. Results In the first trimester of pregnancy, one case of thickened cervical transparent layer was diagnosed. The second trimester of pregnancy revealed I type of lethal aplastic anemia. The molecular diagnosis confirmed the mutation of c.742C> T (p.R248C) in FGFR3 gene. Conclusion Fatal BDS can be diagnosed early by combining prenatal ultrasound and molecular techniques.