地中海贫血产前诊断在出缺陷防控中的作用

The role of prenatal diagnosis of thalassemia in the prevention and control of birth defects

目的探讨地中海贫血产前诊断在出生缺陷防控中的作用。方法对在孕早期(11~14周)超声引导下经腹绒毛穿刺取材247例,在孕中期(16~26周)超声引导下羊膜腔穿刺取材903例,在孕中、晚期(23~37周)超声引导下脐静脉穿刺取材73例,总共1223例单胎妊娠且有生育重型或中间型地贫患儿高风险的孕妇进行地中海贫血产前诊断。结果经腹行绒毛穿刺247例,一次穿刺成功率99.59%,2例穿刺术后2周内流产,诊断胎儿中间型、重型地贫共62例,其中重型地贫32例,通过咨询后49例胎儿中间型、重型地贫选择引产。羊水穿刺取材903例,一次穿刺成功率99.89%,有3例病例在术后2周内流产,诊断胎儿中间型、重型地贫共202例,其中重型地贫68例,通过咨询后112例胎儿中间型、重型地贫选择引产。脐血穿刺取材73例,一次穿刺成功率98.63%,术后2周内流产0例,诊断胎儿中间型、重型地贫共20例,其中重型地贫7例,通过咨询后1例重型地贫未引产,9例胎儿中间型、重型地贫选择引产。结论侵入性产前诊断技术能安全有效地应用到地中海贫血产前诊断中,有效防止中间型和重型地中海贫血患儿出生,达到优生优育的目的。

Objective To explore the role of prenatal diagnosis of thalassemia in the prevention and control of birth defects.Methods Prenatal diagnosis of thalassemia was performed in 247 cases sampled by ultrasound-guided transabdominal chorionic villius in the first trimester(11~14 weeks),903 cases sampled by ultrasound-guided amniotic fluid puncture in the second trimester(16~26 weeks),and 73 cases sampled by umbilical vein puncture in the second and third trimester(23~37 weeks).A total of 1223 pregnant women with singleton pregnancy and high risk of giving birth to children with severe or intermediate thalassemia were diagnosed.Results There were 247 cases of transabdominal chorionic villus puncture,and the success rate of one puncture was 99.59%.2 cases were aborted within 2 weeks after puncture.62 cases of fetal intermediate and severe thalassemia were diagnosed,32 of which were severe thalassemia,and 49 cases of fetal intermediate and severe thalassemia were induced after consultation.Amniotic fluid puncture in 903 cases,and the success rate of one puncture was 99.89%.There were 3 cases of abortion within 2 weeks after operation.A total of 202 cases of fetal intermediate and severe thalassemia were diagnosed,including 68 cases of severe thalassemia.112 cases of fetal intermediate and severe thalassemia were induced after consultation.Umbilical vein puncture was performed in 73 cases,and the success rate of one puncture was 98.63%.There were 0 cases of abortion occurred within 2 weeks after operation.A total of 20 cases of fetal intermediate and severe thalassemia were diagnosed,including 7 cases of severe thalassemia.1 case of severe thalassemia was not induced after consultation,and 9 cases of fetal intermediate and severe thalassemia were induced.Conclusion Invasive prenatal diagnosis technology can be safely and effectively applied to the prenatal diagnosis of thalassemia,effectively prevent the birth of intermediate and severe thalassemia children,and achieve the purpose of eugenics.