2019-2021年清远地区111例产前诊断胎儿绒毛染色体核型分析

Karyotype analysis of 111 prenatal diagnosed fetal villus chromosomes in the Qingyuan area from 2019 to 2021

目的探讨胎儿绒毛染色体核型分析在产前诊断中的应用。方法选取2019年1月至2021年12月在清远市人民医院妇产科产前诊断中心就诊且具有产前诊断指征孕妇111例,并由B超介导下经腹壁穿刺术留取绒毛,进行细胞培养、染色体制备、核型分析及结果比较。结果共111例孕早期孕妇产前绒毛标本,培养成功111例,培养成功率为100%;胎儿绒毛染色体异常核型及多态性核型43例,异常率为38.74%,其中21-三体为5例,18-三体为13例,13-三体为8例,其他嵌合体为1例,非平衡染色体结构重排4例,倒位1例,性染色体异常10例(特纳综合征7例,两性畸形3例),多态变异(归异常染色体类)1例。不同产前诊断指征中的异常核型检出率,高龄孕妇为44.44%,胎儿颈部透明带厚度(NT)增厚为37.50%,唐氏筛查高风险为50.00%,21-三体高风险为28.57%,淋巴水囊瘤为100.00%,胎儿水肿为85.71%,胎儿发育异常为56.52%,双方地中海贫血为4.55%,胎儿多发畸形为75.00%,两项及以上诊断指征为92.00%,以淋巴水囊瘤胎儿染色体异常检出率最高,其次为有两项及以上诊断指征,再次为胎儿水肿。染色体异常核型中,高龄组异常核型检出率高于低龄组(P>0.05)。具有产前诊断指征孕妇胎儿妊娠结局中,染色体核型异常组药流终止妊娠率显著高于染色体核型正常组(P<0.05)。结论具有产前诊断指征孕妇孕早期染色体异常核型检出率高,绒毛染色体异常核依次为18-三体、性染色体异常、13-三体、21-三体、其他核型,且绒毛细胞培养及染色体核型分析方法简便可靠、成功率高,能在孕早期及时发现胎儿染色体疾病,为产前诊断提供一定预测价值。

Objective To explore the application of fetal villus chromosome karyotype analysis in prenatal diagnosis.Methods A total of 111 pregnant women with prenatal diagnostic indications from the Prenatal Diagnosis Center of Qingyuan People’s Hospital from January 2019 to December 2021 were selected and the villi were collected through ultrasound-guided abdominal wall puncture for cell culture,chromosome preparation,karyotype analysis,and result comparison.Results 111/111 samples of prenatal villi from women in the first trimester were successfully cultured,with a success rate of 100%;There were 43 cases of abnormal karyotypes and polymorphic karyotypes of fetal villus chromosomes,with an abnormal rate of 38.74%,including 5 cases with trisomy 21,13 cases with trisomy 18,8 cases with trisomy 13,1 case with other chimeras,4 cases with unbalanced chromosome structure rearrangement,1 case with inversion,10 cases with sex chromosome abnormalities(7 cases with Turner syndrome and 3 cases with hermaphroditism),and 1 case of polymorphic variation(classified as abnormal chromosomes);The detection rate of abnormal karyotypes in different prenatal diagnostic indications was 44.44%in the elderly pregnant women,37.50%in fetuses with increased nuchal translucency thickness(NT),50.00%in the high-risk population in Down’s syndrome screening,28.57%in the high-risk population in the trisomy 21 screening,100.00%in fetuses with cystic hygroma,85.71%in fetuses with edema,56.52%in fetuses with dysplasia,4.55%in both mothers and fetuses withα-thalassemia,75.00%in fetuses with multiple malformation,and 92.00%in fetuses with two or more diagnostic indications,of which the detection rate of chromosomal abnormalities in fetuses with cystic hygroma was the highest,followed by fetuses with two or more diagnostic indicators,and fetal edema was the third;The detection rate of abnormal karyotypes in the elderly group was higher than that in the younger group(P>0.05);In the fetal pregnancy outcome of pregnant women with prenatal diagnostic indications,the rate of termination of pregnancy due to drug-induced abortion in the group with abnormal chromosome karyotypes was significantly higher than that in the group with normal chromosome karyotypes(P<0.05).Conclusion The detection rate of abnormal karyotypes of chromosomes in early pregnancy of pregnant women with prenatal diagnosis indications was high.The abnormal karyotypes of villus chromosomes are trisomy 18,sex chromosome abnormalities,trisomy 13,trisomy 21,and other karyotypes.The methods of villus cell culture and chromosome karyotype analysis are simple,reliable,and have a high success rate.These methods can help timely detect fetal chromosome diseases in the first trimester,providing certain predictive value for prenatal diagnosis.