经腹绒毛取样侵入性产前诊断60例报告

摘要

目的：总结早孕期经腹绒毛取样（ transabdominal chorionic villus sampling，TA-CVS）操作的适应证、并发症及胎儿结局。方法选取该院门诊孕妇60例，单胎妊娠，平均年龄（29.27±4.1）岁，平均孕周（12.61±0.86）周。手术适应证为胎儿染色体异常高危因素20例；双亲同型地贫携带者42例。无手术禁忌证，术前测量体温、血压、脉搏。超声引导TA-CVS，52例标本送染色体核型分析（染色体高危因素20例，因地贫基因诊断而同时送检32例），42例送检地中海贫血基因（β-地贫11例，α-地贫31例）。结果检出β-地贫双重杂合子或纯合子6例，重型α-地贫8例，血红蛋白H病6例。7例超声检测胎儿水肿／颈部囊性水囊瘤中检出常染色体三体3例。无手术并发症。1例术后2周流产，流产率为1.67％。结论 TA-CVS的优点在于早诊断、早干预，且胎儿丢失率低。主要产前诊断适应证是单基因遗传病和早孕期超声检测异常病例的染色体病检出。%Objective To summarize the indications and the complications of transabdominal chorionic villus sampling( TA-CVS) in the first trimester of pregnancy.Methods 60 women with single pregnancy came from the outpatient department of obstetrics in our hospital.Their average age was ( 29.27 ± 4.1 ) years, and their average gestational age were (12.61 ±0.86)weeks.The indications of the procedure included the suspicion of the fetal chro-mosomal disorder(20 cases), and coupling with the same type thalassemia carrier(42 cases).The body temperature, blood pressure, and pulse were measured before the TA-CVS.The samples of villi were sent to check the karyotypes, or detect the thalassemia genotypes.Results The homozygote or double heterozygote of β-thalassemia were detected in 6 cases, severeα-thalassemia in 8 cases, and hemoglobin H disease in 6 cases.Autosomal trisomy was detected in 3 cases out of 7 fetus edema/cystic hydroma by B ultrasound.Miscarriage occurred in 1 case two weeks after doing the procedure(1.67%).Conclusion Early diagnosis, timely intervention and low fetal-loss are the advantages of TA-CVS for invasive prenatal examination.The main indications of TA-CVS are the prenatal diagnosis of single genet-ic disease, and chromosomal disorders especially when the ultrasound findings show the suspicious disorders in the first trimester of pregnancy.