【摘要】 目的 对一例孕26周双下肢瘫痪的孕妇实施遗传咨询及基因检测和介入性产前诊断，明确孕妇宫内胎儿的遗传信息和发育情况。方法 对孕妇采用芯片捕获高通量测序，其家系其他成员进行Sanger测序验证，随后通过羊膜腔穿刺和Sanger测序验证进一步对胎儿进行产前诊断。结果 全外显子组测序检测结果提示孕妇SPAST基因杂合突变，孕妇为常染色体显性痉挛性截瘫4型患者。该家系中3例患者均存在SPAST基因的同一位点致病性突变（c.1496G>A,p.Arg499His），其余家系成员及胎儿均不存在该致病突变位点。结论 遗传病是导致流产、死胎等不良妊娠结局和影响出生胎儿今后生活质量的重要原因。应用全外显子组测序技术和Sanger测序验证对遗传性痉挛性截瘫家系进行确诊，明确相关致病位点，有助于该家系的优生指导。更多还原

【Abstract】 Objective To carry out genetic counseling, genetic testing and interventional prenatal diagnosis on a pregnant woman with double lower limb paralysis at 26 weeks of pregnancy, and to clarify the genetic information and development of the fetus in utero. Methods Pregnant women were sequenced with chip capture and other family members were validated by Sanger sequencing, and then the fetus was further diagnosed by amniocentesis and Sanger sequencing. Results The results of whole exome sequencing(WES) indicated heterozygous mutation of SPAST gene in pregnant women, who were autosomal dominant spastic paraplegia type 4 patients. Three patients in this family all had pathogenic mutations at the same locus of SPAST gene(c.1496G>A,p.Arg499His), and the other family members and the fetus did not have this pathogenic mutation locus. Conclusion Genetic disease is an important cause of adverse pregnancy outcomes such as abortion, stillbirth and affecting the quality of life of the fetus. The application of whole exome sequencing technology and Sanger verification to diagnose the genetic spastic paraplegia family and identify the relevant pathogenic sites is helpful for the eugenic guidance of this family.更多还原