不同指征介入性产前诊断的异常染色体检出率及其安全性分析

Detection rate of chromosomal abnormalities in women with different indications for invasive prenatal diagnosis and procedure-related complications

目的探讨不同指征介入性产前诊断（羊膜腔穿刺和脐血管穿刺）的异常染色体检出率以及介入性产前诊断技术的安全性。方法回顾性分析本中心1264例介入性产前诊断（1082例羊膜腔穿刺和182例脐血管穿刺）的手术指征、不同指征的异常染色体检出率及穿刺相关并发症。结果1264例介入性产前诊断中，穿刺指征分别为：血清学筛查高风险651例（5i．5％）、孕妇高龄（年龄≥35岁）318例（25．2％）、超声胎儿结构异常136例（10．8％）、不良妊娠史88例（6．9％）、血清学筛查一项或两项标志物MoM值异常52例（4．1％）和夫妇一方染色体平衡易位携带19例（1．5％）。共检出有临床意义的染色体异常37例，其穿刺指征依次为：超声提示胎儿结构异常20例（20／136，14．7％），血清学筛查高风险12例（12／651，1．8％），至少一项标志物MoM值异常1例（1／52，1．9％），不良妊娠史1例（1／88，1．1％），夫妇一方染色体平衡易位携带3例（3／19，15．8％），孕妇年龄≥35岁者未检出有临床意义的染色体异常（0／318）。1264例介入性产前诊断中共有5例自然流产，其中与羊膜腔穿刺相关的胎儿丢失率为0．28％（3／1082），与脐血管穿刺相关的胎儿丢失率为1．09％（2／182），两者相比差异无统计学意义（P=0．154）。脐血管穿刺后孕妇心慌、腹痛以及胎心减慢等并发症的发生率明显高于羊膜腔穿刺组（9．89％和0．18％，P=0．001）。结论超声发现胎儿结构异常应常规检查胎儿核型；单纯高龄作为介入性产前诊断的指征值得商榷；介入性产前诊断从安全性角度应首选羊膜腔穿刺术。

Objective To discuss the detection rate of chromosomal abnormalities in women with different indications for invasive prenatal diagnosis （amniocentesis and cordocentesis）, and the procedure-related complications. Methods A retrospective analysis was conducted on 1264 women, who underwent invasive prenatal diagnosis （1082 amniocentesis and 182 cordocentesis）, and the procedure-related complications were reviewed. Results The indications for invasive prenatal diagnosis in these 1264 women were： increased risk at prenatal screening （651, 51.5%）, advanced maternal age （ ≥ 35） （ 318, 25.2%）, abnormal foundings through ultrasonograph （ 136, 10.8%）, history of adverse pregnancy（88,6.9%）, one or two abnormal serologic markers（52,4.1%）, and chromosomal balance translocation carrier in either one of the couple（19, 1.5 %）. Thirty-seven cases were found to be chromosomal abnormalities with clinic significance and the indications for them were： ultrasonic abnormality （20/136, 14.7%）; increased risk at prenatal screening （12/651, 1.8%）; one or two abnormal serologic markers （1/52, 1.9%） ; history of adverse-pregnant （1/88, 1.1%） ; chromosomal balance translocation carrier in either one of the couple （3/19, 15.8%）; advanced maternal age （0/318）. Among the 1264 cases, 5 experienced spontaneous abortion and the procedurerelated fetal loss rates were 0.28% for amniocentesis （3/1082） and 1.09% for cordocentesis （2/182）, P=0. 154. The rate of complications after cordocentesis was significantly higher than amniocentesis （9.89% vs 0. 18% ,P=0. 0001）. Conclusions Routine fetal karyotyping should be prompted after prenatal ultrasonographic abnormalities. However, invasive prenatal diagnosis due to advanced maternal age alone is controversial. Amniocentesis is the fist choice for invasive prenatal diagnosis.