胎儿脐血染色体分析在出生缺陷防控中的应用价值

Application value of fetal umbilical cord blood chromosomal analysis in prevention and control of birth defects

目的 分析胎儿脐血染色体分析在出生缺陷防控中的应用价值。方法 选取2008年6月—2019年12月嘉兴市妇幼保健院收治的产前检查和遗传咨询孕妇919例,进行脐血染色体核型分析检查和单核苷酸多态性微阵列芯片(SNP-Array)检测。结果 919例行脐血穿刺的孕妇中,10例穿刺失败改抽羊水培养,穿刺成功率98.91%(909/919);流产7例,流产率0.77%(7/909);胎儿一过性心动过缓10例,占1.10%(10/909),经左侧卧位、吸氧等处理后5 min内恢复正常。909例脐血标本中,培养成功900例,培养成功率99.01%(900/909)。脐血穿刺指征主要为胎儿超声异常323例,检出异常核型37例(11.46%);血清学筛查高风险422例,检出异常核型14例(3.32%);高龄106例,检出异常核型8例(7.55%);羊水培养结果验证18例,检出异常核型3例(16.67%);无创DNA产前检测高风险10例,检出异常核型6例(60.00%);不良孕产史18例,检出异常核型1例(5.56%);其他12例,检出异常核型0例(0.00%)。穿刺成功的909份脐血中,发现异常核型69例,异常率为7.59%。异常核型以三体最多见,共35例,占50.72%(35/69)。结论 胎儿脐血染色体分析是必要、安全、可靠的产前诊断技术之一,可满足大孕周孕妇对于产前诊断的需要和羊水染色体嵌合的进一步处理,有效预防21-三体综合征、18-三体综合征及13-三体综合征缺陷儿的出生,具有较好的临床应用价值,可有效降低出生缺陷发生率。

Objective To analyze the application value of fetal umbilical cord blood chromosomal analysis in prevention and control of birth defects. Methods A total of 919 pregnant women receiving prenatal examination and genetic consultation in Jiaxing Municipal Maternal and Child Health Care Hospital from June 2008 to December 2019 were selected, fetal umbilical cord blood chromosomal analysis and single nucleotide polymorphism microarray chip(SNP-Array) were performed. Results Among 919 pregnant women receiving umbilical cord blood puncture, 10 cases failed and converted to amniotic fluid culture, the successful rate of puncture was 98.91%(909/919);abortion was observed in 7 cases, the abortion rate was 0.77%(7/909);10 cases were found with fetal transient bradycardia, accounting for 1.10%(10/909), then fetal heart rate returned to normal level within five minutes after left lateral position and oxygen inhalation. Among 909 umbilical cord blood samples, 900 samples were cultured successfully, the successful rate was 99.01%(900/909). The main indication of umbilical cord blood puncture was fetal ultrasonic abnormalities, 37 cases(11.46%) with abnormal karyotype were detected;422 cases were found with high-risk serological screening result, 14 cases(3.32%) with abnormal karyotype were detected;among 106 advanced-age women, 8 cases(7.55%) with abnormal karyotype were detected;18 cases underwent amniotic fluid culture, 3 cases(16.67%) with abnormal karyotype were detected;10 cases underwent noninvasive DNA prenatal test, 6 cases(60.00%) with abnormal karyotype were detected;18 cases had adverse pregnancy history, 1 case(5.56%) with abnormal karyotype was detected;12 cases had other situations, no case with abnormal karyotype was detected. Among 909 umbilical cord blood samples, 69 cases with abnormal karyotype were detected, the rate was 7.59%. Trisomy was the most common abnormal karyotype, accounting for 50.72%(35/69). Conclusion Fetal umbilical cord blood chromosomal analysis is one of the necessary, safe, and reliable prenatal diagnostic techniques, which can satisfy the demand of pregnant women for prenatal diagnosis and further management of amniotic fluid chromosomal mosaic, effectively prevent the birth of children with trisomy 21 syndrome, trisomy 18 syndrome, and trisomy 13 syndrome.The method has good clinical application value, and it can effectively reduce the incidence rate of birth defects.