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目的:探讨B超引导下经腹绒毛活检在孕早期产前诊断中的应用价值。方法:孕早期(11~13+6周)B超引导下经腹绒毛取材32例,其中11例绒毛组织进行细胞培养并制备染色体,G显带分析核型,21例绒毛组织进行地中海贫血基因诊断。结果:32例高危孕妇取材时间为11~13+6周,穿刺成功率100%,诊断3例21三体综合征,2例重型α-地中海贫血,2例重型β-地中海贫血,无因绒毛活检引起流产。结论:孕11~13+6周行B超引导经腹绒毛活检是一项安全可行的早孕期产前诊断方法,对重型地中海贫血及常见的染色体病可做到早诊断,早干预,减少中晚期引产的并发症,可降低出生缺陷率。
Objective: To investigate the value of transvaginal villus biopsy guided by B-ultrasound in prenatal diagnosis of early pregnancy. Methods: In the first trimester of pregnancy (11 ~ 13 + 6 weeks), 32 cases underwent transvaginal ultrasonography. Among them, 11 cases of chorionic villi were cultured in vitro and chromosomes were prepared. G - banding karyotype analysis and 21 cases of chorionic villi were performed for thalassemia gene diagnosis. Results: Thirty-two high-risk pregnant women were enrolled in the study from 11 to 13 + 6 weeks. The puncture success rate was 100%. Three cases of trisomy 21, two cases of severe alpha-thalassemia, two cases of beta-thalassemia major, Biopsy causes miscarriage. CONCLUSION: B-ultrasonography guided transvaginal villus biopsy during 11 ~ 13 + 6 weeks of pregnancy is a safe and feasible method for prenatal diagnosis of early-trimester pregnancy. Early detection and early intervention of heavy thalassemia and common chromosomal diseases can be achieved, Late induction of labor complications, can reduce the birth defect rate.