175例孕妇脐血管穿刺指征与结果分析

Clinical Analysis of Prenatal Diagnosis and Chromosomal Karyotypes of Fetal Cord Blood in 175 Cases

目的:分析妊娠中、晚期产前诊断指征与胎儿染色体异常核型的关系,评估脐血管穿刺在产前诊断中的作用。方法:对175例有产前诊断指征的单胎孕妇抽取脐血进行胎儿染色体核型分析,评估孕妇行脐血管穿刺的指征构成比与染色体异常核型检出率。结果:在175例脐血标本中,胎儿染色体异常检出率为9.71%(17/175)。染色体三体占异常核型的76.47%(13/17),其中21-三体8例,18-三体5例。检出胎儿性染色体异常2例,染色体易位1例,倒位1例。脐血管穿刺的主要指征为胎儿超声软指标异常、血清学筛查高风险、不良孕产史、高龄、胎儿超声结构异常和无创产前检测(NIPT)高风险等,检出率分别为6.12%(3/49)、9.38%(3/32)、0(0/29)、5.00%(1/20)、33.33%(5/15)和80.00%(4/5)。结论:妊娠中、晚期有脐血管穿刺指征的高危孕妇中,胎儿超声结构异常和NIPT高风险的孕妇异常染色体核型检出率较高,其中21-三体和18-三体是主要的胎儿染色体异常核型。

Objective：To analyze the correlation between the clinical indications of prenatal diagnosis and the chromosomal abnormalities of fetal cord blood in the second and third trimester,so as to evaluate the application of cordocentesis in the prenatal diagnosis. Methods：Cordocentesis were performed in 175 pregnant women with the indications of prenatal diagnosis. Fetal chromosomal karyotypes were examined. The constituent ratio of clinical indications and the detection rate of chromosomal abnormalities were assessed. Results：17（9.71%） chromosomal aberrations were detected in fetal cord blood of 175 cases. Trisomy consisted of 76.47%（13/17） of all abnormalities,including 8 cases with trisomy 21 and 5 cases with trisomy 18. Two fetuses were diagnosed with sex chromosomal abnormalities,one fetus with chromosomal translocation,and one fetus with chromosomal inversion. The indications of cordocentesis were consisted of the soft marker abnormalities in fetal ultrasonic,the high-risk in serum screening,abnormal reproductive history,advance maternal age,fetal sonographic structural anomalies,and the high-risk in NIPT. The detection rate for above indications were 6.12%（3/49）,9.38%（3/32）,0（0/29）,5.00%（1/20）,33.33%（5/15） and 80.00%（4/5）,respectively. Conclusions：The detection rate of chromosomal aberration in pregnant women with fetal sonographic structural anomalies and highrisk NIPT is relatively high,and trisomy 21 and trisomy 18 are the leading fetal chromosomal abnormalities in the second and third trimester.