无创基因检测联合单项超声软指标异常在胎儿染色体筛查中的应用及围生结局
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摘要
目的探讨胎儿染色体筛查中应用无创基因检测联合单项超声软指标异常的指导意义以及对围生结局的影响。方法选取2018年1—12月宁波市妇女儿童医院收治的单项超声软指标异常孕妇410例作为研究对象,对410例单项超声软指标阳性的孕妇进行无创基因检测,并对无创基因检测结果诊断为高风险的孕妇实施侵入性检查,对获得的绒毛组织及羊水实施染色体核型分析,明确诊断的准确率,观察染色体异常情况及指标阳性分布以及无创基因检测结果中高风险孕妇的围生结局。结果 410例单项超声软指标阳性的孕妇中共检测出11例无创高风险胎儿,11例无创高风险胎儿中21-三体异常表现的有8例胎儿,通过与其他核型异常的情况对比发现,其发生率较高;无创高风险孕妇中核型异常包含13-三体、18-三体及21-三体共9例,都采取引产的方式,2例染色体异常孕妇选择足月分娩的方式。结论胎儿产前筛查在三维超声基础上,对超声软指标异常的孕妇进行无创基因检测,能够有效提升筛查准确率,并且使用无创基因检测也有着比较良好的筛查效果,有效降低了临床中使用侵入性检查的概率,使孕妇流产的风险明显减少,值得临床中大力推广与应用。
Objective To discuss the guiding significance of noninvasive genetic testing combined with single ultrasound soft index abnormality in fetal chromosome screening and its influence on perinatal outcome. Methods A total of 410 pregnant women with abnormal soft index of ultrasound were selected from January 2018 to December 2018 in our hospital. As the subjects of this study, 410 pregnant women with positive soft index of ultrasound were tested for non-invasive genes, and pregnant women with high risk of non-invasive gene detection were tested for invasiveness, and chromosome karyotype analysis of villus tissue and amniotic fluid was carried out. The accuracy of diagnosis, chromosome abnormalities and positive distribution of indicators, and perinatal outcomes of high-risk pregnant women in non-invasive gene test results were observed. Results A total of 11 non-invasive high-risk fetuses were detected in 410 pregnant women with positive single ultrasound soft index, and 8 of 11 non-invasive high-risk fetuses showed abnormal trisomy 21. Compared with other abnormal karyotypes, the incidence of abnormal karyotypes in non-invasive high-risk pregnant women was higher. Karyotype abnormalities in non-invasive high-risk pregnant women included trisomy 13, trisomy 18, trisomy 21 and trisomy 21. Abnormal pregnant women choose full-term delivery. Conclusion On the basis of three-dimensional ultrasound, prenatal screening for pregnant women with abnormal ultrasound soft indicators can be detected by non-invasive gene method, which can effectively improve the accuracy of screening, and the use of non-invasive gene detection also has a relatively high quality screening effect. It can effectively reduce the probability of clinical use of invasive screening, and significantly reduce the risk of abortion of pregnant women. It is worth popularizing and applying in clinic.
Objective To discuss the guiding significance of noninvasive genetic testing combined with single ultrasound soft index abnormality in fetal chromosome screening and its influence on perinatal outcome. Methods A total of 410 pregnant women with abnormal soft index of ultrasound were selected from January 2018 to December 2018 in our hospital. As the subjects of this study, 410 pregnant women with positive soft index of ultrasound were tested for non-invasive genes, and pregnant women with high risk of non-invasive gene detection were tested for invasiveness, and chromosome karyotype analysis of villus tissue and amniotic fluid was carried out. The accuracy of diagnosis, chromosome abnormalities and positive distribution of indicators, and perinatal outcomes of high-risk pregnant women in non-invasive gene test results were observed. Results A total of 11 non-invasive high-risk fetuses were detected in 410 pregnant women with positive single ultrasound soft index, and 8 of 11 non-invasive high-risk fetuses showed abnormal trisomy 21. Compared with other abnormal karyotypes, the incidence of abnormal karyotypes in non-invasive high-risk pregnant women was higher. Karyotype abnormalities in non-invasive high-risk pregnant women included trisomy 13, trisomy 18, trisomy 21 and trisomy 21. Abnormal pregnant women choose full-term delivery. Conclusion On the basis of three-dimensional ultrasound, prenatal screening for pregnant women with abnormal ultrasound soft indicators can be detected by non-invasive gene method, which can effectively improve the accuracy of screening, and the use of non-invasive gene detection also has a relatively high quality screening effect. It can effectively reduce the probability of clinical use of invasive screening, and significantly reduce the risk of abortion of pregnant women. It is worth popularizing and applying in clinic.
引文
[1] 孟繁杰,罗丽双,于月新,等.无创产前基因检测筛查胎儿性染色体异常[J].中国医科大学学报,2018,47(3):240-243.
[2] 许艳,明坚,李娜,等.无创性产前基因检测技术筛查策略的卫生经济学分析[J].中华妇产科杂志,2017,52(1):53-56.
[3] HUI L,BIANCHI D W.Noninvasive prenatal DNA testing:the vanguard of genomic medicine[J].Annu Rev Med,2017,68(1):459-472.
[4] 方玉莹,吕时铭.无创性产前基因检测的临床应用[J].中华妇产科杂志,2016,51(1):74-76.
[5] 王佳燕,陈敏,吴莉,等.无创产前基因检测双胎21、18和13-三体综合征的应用研究[J].中国实用妇科与产科杂志,2017,33(5):497-501.
[6] 王丹,张勇.1166例无创产前基因检测结果分析[J].中华医学遗传学杂志,2016,33(3):428-429.
[7] 马涛,杨晓,岳军,等.妊娠中晚期超声软指标与胎儿染色体异常及其围生结局[J].实用妇产科杂志,2017,33(2):110-113.
[8] NEVELING K,THUNG D T,BEULEN L,et al.Validation of two-channel sequencing-by-synthesis for noninvasive prenatal testing of fetal whole and partial chromosome aberrations[J].Prenat Diagn,2016,36(3):216-223.
[9] THOMPSON L,BAERGEN A,LICHTENSZTEJN Z,et al.Abstract 3587:Multiplexed nuclear area and micronucleus screening identifies SKP1 as a human chromosome instability gene[J].Cancer Research,2016,76(14 Supplement):3587.
[10] 吴莉,陈敏,钟进,等.无创产前检测进行染色体缺失或重复检测的临床应用价值[J].实用妇产科杂志,2017,33(8):622-625.
[11] 朱赛娟,张月萍,伍俊萍,等.孕妇外周血胎儿游离DNA无创产前检测应用价值探讨[J].现代妇产科进展,2017,26(12):917-920.
[12] 张媛媛,刘晓亮,初国铭,等.无创性胎儿常见染色体非整倍体筛查与结果分析[J].山东医药,2017,57(20):1-4.
[13] 龙洋,罗艳梅,徐聚春,等.无创DNA检测在诊断高龄孕妇胎儿非整倍体中的应用[J].实用妇产科杂志,2017,33(5):373-375.
[14] MARIN D,WANG Y,TAO X,et al.Comprehensive chromosome screening and gene expression analysis from the same biopsy in human preimplantation embryos[J].Mol Hum Reprod,2017,23(5):330-338.
[15] 陈英苹,郑芳秀,周琴,等.无创产前检测在高龄孕妇中检测胎儿非整倍体的临床应用[J].生殖与避孕,2016,36(9):708-711.
[16] 惠淑宁,芮淑贤,马燕琼,等.无创产前筛查技术在高龄孕妇唐氏综合征筛查中的应用[J].广东医学,2016,37(S1):47-48.
[17] HAYATA K,HIRAMATSU Y,MASUYAMA H,et al.Discrepancy between Non-invasive Prenatal Genetic Testing (NIPT) and amniotic chromosomal test due to placental mosaicism:a case report and literature review[J].Acta Med Okayama,2017,71(2):181-185.
[18] 姜纬,邓学东,孙玲玲,等.超声软指标在基因组微小异常中的应用价值[J].中国医学影像技术,2018,34(S1):62-66.
[19] 闫景彬,闫秀梅,杨建享,等.产前超声筛查胎儿先天性心脏病的临床意义及高危因素分析[J].中华全科医学,2016,14(1):114-115,160.
[20] 于文倩,吕远,尹少尉,等.无创产前检测技术在双胎染色体非整倍体疾病筛查中应用研究[J].中国实用妇科与产科杂志,2016,32(10):986-989.
[2] 许艳,明坚,李娜,等.无创性产前基因检测技术筛查策略的卫生经济学分析[J].中华妇产科杂志,2017,52(1):53-56.
[3] HUI L,BIANCHI D W.Noninvasive prenatal DNA testing:the vanguard of genomic medicine[J].Annu Rev Med,2017,68(1):459-472.
[4] 方玉莹,吕时铭.无创性产前基因检测的临床应用[J].中华妇产科杂志,2016,51(1):74-76.
[5] 王佳燕,陈敏,吴莉,等.无创产前基因检测双胎21、18和13-三体综合征的应用研究[J].中国实用妇科与产科杂志,2017,33(5):497-501.
[6] 王丹,张勇.1166例无创产前基因检测结果分析[J].中华医学遗传学杂志,2016,33(3):428-429.
[7] 马涛,杨晓,岳军,等.妊娠中晚期超声软指标与胎儿染色体异常及其围生结局[J].实用妇产科杂志,2017,33(2):110-113.
[8] NEVELING K,THUNG D T,BEULEN L,et al.Validation of two-channel sequencing-by-synthesis for noninvasive prenatal testing of fetal whole and partial chromosome aberrations[J].Prenat Diagn,2016,36(3):216-223.
[9] THOMPSON L,BAERGEN A,LICHTENSZTEJN Z,et al.Abstract 3587:Multiplexed nuclear area and micronucleus screening identifies SKP1 as a human chromosome instability gene[J].Cancer Research,2016,76(14 Supplement):3587.
[10] 吴莉,陈敏,钟进,等.无创产前检测进行染色体缺失或重复检测的临床应用价值[J].实用妇产科杂志,2017,33(8):622-625.
[11] 朱赛娟,张月萍,伍俊萍,等.孕妇外周血胎儿游离DNA无创产前检测应用价值探讨[J].现代妇产科进展,2017,26(12):917-920.
[12] 张媛媛,刘晓亮,初国铭,等.无创性胎儿常见染色体非整倍体筛查与结果分析[J].山东医药,2017,57(20):1-4.
[13] 龙洋,罗艳梅,徐聚春,等.无创DNA检测在诊断高龄孕妇胎儿非整倍体中的应用[J].实用妇产科杂志,2017,33(5):373-375.
[14] MARIN D,WANG Y,TAO X,et al.Comprehensive chromosome screening and gene expression analysis from the same biopsy in human preimplantation embryos[J].Mol Hum Reprod,2017,23(5):330-338.
[15] 陈英苹,郑芳秀,周琴,等.无创产前检测在高龄孕妇中检测胎儿非整倍体的临床应用[J].生殖与避孕,2016,36(9):708-711.
[16] 惠淑宁,芮淑贤,马燕琼,等.无创产前筛查技术在高龄孕妇唐氏综合征筛查中的应用[J].广东医学,2016,37(S1):47-48.
[17] HAYATA K,HIRAMATSU Y,MASUYAMA H,et al.Discrepancy between Non-invasive Prenatal Genetic Testing (NIPT) and amniotic chromosomal test due to placental mosaicism:a case report and literature review[J].Acta Med Okayama,2017,71(2):181-185.
[18] 姜纬,邓学东,孙玲玲,等.超声软指标在基因组微小异常中的应用价值[J].中国医学影像技术,2018,34(S1):62-66.
[19] 闫景彬,闫秀梅,杨建享,等.产前超声筛查胎儿先天性心脏病的临床意义及高危因素分析[J].中华全科医学,2016,14(1):114-115,160.
[20] 于文倩,吕远,尹少尉,等.无创产前检测技术在双胎染色体非整倍体疾病筛查中应用研究[J].中国实用妇科与产科杂志,2016,32(10):986-989.