880 例不同产前诊断指征孕妇羊水穿刺 胎儿染色体核型的对比分析

Comparative analysis of fetal chromosome karyotypes with amniotic fluid puncture in 880 pregnant women with different prenatal diagnosis indications

摘要:

目的 探讨产前不同诊断指征与孕妇羊水穿刺胎儿核型的关系，为产前诊断提供较为准确的遗 传咨询。方法 选取2017 年7 月—2019 年7 月在盐城市妇幼保健院就诊的有产前诊断指征的孕妇880 例作 为研究对象。其中，存在不良妊娠史93 例、夫/ 妻染色体异常9 例、超声异常129 例、高龄孕妇226 例及血 清筛查高风险423 例。所有孕妇进行羊水腹腔穿刺，获取羊水细胞，染色体核型分析采用染色体微阵列分析 （CMA）。比较不同产前诊断指征下，胎儿染色体核型异常情况。结果 存在不良妊娠史、夫/ 妻染色体异常、 超声异常、高龄孕妇及血清筛查高风险等各指征胎儿染色体核型异常例数分别为4、9、8、10 及25 例，发生 率分别为4.30%、100%、6.20%、4.42% 及5.91%，总检出率为6.36%。染色体核型异常构成包含染色体数目异 常25 例及多态性变异31 例，染色体数目异常检出率为44.64%（25/56）低于多态性变异检出率55.36%（31/56） （P <0.05）。其中，染色体数目异常包含21-3 体9 例、18-3 体6 例、13-3 体5 例、性染色体3 例及常染色体 2 例，分别占总异常例数的16.07%、10.71%、8.93%、5.36% 及3.57%。多态性变异包含染色体微缺失12 例、 微重复19 例，分别占总异常例数的21.43% 和33.93%。不同产前指征下，胎儿染色体数目异常共25 例，均接 受意见引产。染色体微缺失/ 微重复各检出致病性病例2 例，共4 例。引产1 例，正常妊娠3 例，胎儿均出现 异常。其余案例均意义不明，正常妊娠后胎儿未发现异常。染色体数目缺失均为数据库有关病例。结论 对 具有产前诊断指征的孕妇采用CMA 检测胎儿染色体，能够更准确地检出多态性变异，并发现致病性变异，将 其记录入数据库，可以提供更为准确的遗传咨询。

Abstract:

Objective To explore the relationship between different prenatal diagnosis indications and fetal karyotypes of amniocentesis in pregnant women, and to provide more accurate genetic counseling for prenatal diagnosis. Methods Total of 880 pregnant women with prenatal diagnosis indications who were treated in our hospital from July 2017 to July 2019 were selected. Among them, there were 93 cases of abnormal pregnancy history, 9 cases of chromosomal abnormality of husband/wife, 129 cases of ultrasound abnormality, 226 cases of elderly pregnant women and 423 cases of high risk of serum screening. All pregnant women underwent abdominal amniocentesis to obtain amniotic fluid cells. Karyotype analysis was performed using chromosome microarray analysis (CMA). The fetal chromosome karyotype was compared under different prenatal diagnostic indications. Results The number of abnormal fetal chromosome karyotypes for each indication was 4, 9, 8, 10, and 25, with incidence rates of 4.30%, 100%, 6.20%, 4.42%, and 5.91% respectively, and the total detection rate was 6.36%. The chromosome karyotypes abnormalities included 25 of abnormal chromosome number and 31 of polymorphic variation. The detection rate of abnormal chromosome number was 44.64% (25/56), which was lower than that of polymorphism variation 55.36% (31/56) (P < 0.05). Among them, chromosome number abnormality included 9 cases of 21 trisomy chromosomes, 6 cases of 18 trisomy chromosomes, 5 cases of 13 trisomy chromosomes, 3 cases of sex chromosomes and 2 cases of autosomes, accounting for 16.07%, 10.71%, 8.93%, 5.36% and 3.57% of the total abnormal cases respectively. There were 12 cases of chromosome microdeletion and 19 cases of microduplication in polymorphic variation, 21.43% and 33.93% of total abnormal cases, respectively. There were 25 abnormal fetal chromosome numbers under different prenatal indications, and all patients accepted opinions to induce labor. There were both 2 pathogenicity of chromosomal microdeletion/microduplication, 4 in total. The fetus were abnormal in 3 normal pregnancy and 1 induced labor. The other cases were of unknown significance. No abnormality was found after normal pregnancy. Chromosome number deletion was found in the database. Conclusion Using CMA to detect fetal chromosomes, polymorphic variation can be detected more accurately to detect pathogenic variation, and recorded in the database, which can provide more accurate genetic counseling.