钦州地区1013例不同产前诊断指征孕妇的胎儿染色体结果分析

Analysis of fetal chromosome results of 1013 pregnant women with different prenatal diagnosis indications in Qinzhou area

目的探究钦州地区不同产前诊断指征在胎儿染色体异常中的应用价值。方法选取2021年2月至2023年3月在钦州市妇幼保健院具备产前诊断指征行产前诊断的1013例孕妇为研究对象,对不同产前诊断指征、胎儿染色体核型分析及CNV-seq检测结果进行回顾性分析。结果1013例样本中检出胎儿染色体异常78例,包括64例染色体异常核型,10例致病性及4例可能致病性的CNVs。额外检出93例临床意义未明的CNVs。产前诊断指征占比前3分别为:超声异常(35.54%)、高龄(19.84%)、血清学筛查高风险(13.52%)。胎儿检出染色体异常指征中占比前3分别为:夫妻双方之一染色体异常(33.33%)、NIPT异常(25.00%)、血清学筛查高风险(8.03%)。胎儿检出临床意义未明的CNVs指征中最高是NT增厚(22.00%),其次是超声异常(10.56%)。结论钦州地区胎儿染色体异常检出主要与夫妻之一染色体异常、NIPT异常、血清学筛查高风险指征相关,NT增厚及超声异常指征可以检出更多胎儿临床意义未明的CNVs,应结合临床信息做好遗传咨询及产前诊断工作,以提高产前诊断效率。

Objective To explore the application value of different prenatal diagnosis indications in fetal chromosomal abnormalities in Qinzhou area.Methods A total of 1013 pregnant women with prenatal diagnosis indications in Qinzhou Maternal and Child Health Care Hospital from February 2021 to March 2023 were selected as the research objects.The different prenatal diagnosis indications,fetal chromosome karyotype analysis and CNV-seq test results were retrospectively analyzed.Results Among the 1013 samples,78 cases of fetal chromosomal abnormalities were detected,including 64 cases of chromosomal abnormalities,10 cases of pathogenicity and 4 cases of possibly pathogenic CNVs.An additional 93 cases of CNVs with unknown clinical significance were detected.The top three indications for prenatal diagnosis were:Ultrasound abnormalities(35.54%),advanced age(19.84%),and high risk of serological screening(13.52%).The top three indications of chromosomal abnormalities detected in fetuses were:One of the couples had chromosomal abnormalities(33.33%),NIPT abnormalities(25.00%),and high risk of serological screening(8.03%).The highest indication of CNVs with unknown clinical significance was NT thickening(22.00%),followed by ultrasound abnormalities(10.56%).Conclusion The detection of fetal chromosomal abnormalities in Qinzhou area is mainly related to one of the couples’chromosomal abnormalities,NIPT abnormalities,and high-risk indications for serological screening.NT thickening and ultrasound abnormalities can detect more CNVs with unknown clinical significance.Genetic counseling and prenatal diagnosis should be done in combination with clinical information to improve the efficiency of prenatal diagnosis.