胎儿脐血染色体检查在产前诊断中的应用价值

目的 探讨胎儿脐血染色体核型分析在产前诊断中的应用价值。 方法 对2012 年1 - 12 月我院收治的52 例有脐血穿刺指征的孕妇，在妊娠17 ～ 39 周时行脐带穿刺术抽取脐血进行染色体核型分析。 结果 染色体异常核型14 例，异常核型检出率26.9%。其中21 三体7 例（ 占异常核型的50.0%），18 三体2 例（14.3%），部分三体2 例（14.3%），染色体易位1 例（7.1%），倒位1 例（7.1%），特纳综合征1 例（7.1%）。 结论 脐血染色体核型分析不受妊娠时间的限制，能够有效降低缺陷患儿的出生率，对孕中晚期胎儿的产前诊断具有重要意义。

Application of fetal cord blood chromosome karyotype analysis in prenatal diagnosis of the third trimester fetuses

Objective To study the application of fetal cord blood chromosomal karyotype analysis in prenatal diagnosis of the third trimester fetuses. Methods Fetal cord chromosomal karyotypes from 52 pregnant women admitted to our hospital from January 2012 to December 2012 with indications for umbilical cord puncture at weeks 17-39 after pregnancy were analyzed. Results Among the 14 pregnant women with abnormal choromosomal karyotypes detected in their cord blood （the abnormal rate of choromosomal karyotypes was 26.9%）, trisomy 21 was detected in 7, trisomy 18 in 2 , partial trisomy in 2, chromosomal translocation in 1, chromosomal inversion in 1 and Turner syndrome in 1, accounting for 50%, 14.3%, 14.3%, 7.1%, 7.1%, 7.1% respectively of the abnormal choromosomal karyotypes. Conclusion Fetal cord blood chromosomal karyotype analysis is not limited by the pregnancy time and can effectively reduce the rate of birth defects, thus playing an important role in prenatal diagnosis of the second and third trimester fetuses.