胎儿染色体组拷贝数变异与产前超声异常的相关性分析
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摘要
目的:探讨产前超声结构异常与染色体组拷贝数变异(Chromosome copy number variation,CNV)的相关性,为孕期提示超声结构异常及软指标孕妇提供适宜的产前诊断策略。方法:选取甘肃省产前诊断中心提示高通量测序CNV的837例孕妇进行回顾性分析,通过比较不同产前诊断指征,评估孕期超声指征与致病性高通量测序CNV间的关联性。结果:致病性高通量测序CNV中孕期超声指征占79.4%,与以往单纯胎儿染色体核型分析比较,通过高通量测序CNV检测可额外发现4.1%的染色体异常。结论:孕期超声结构异常或提示多项超声软指标应建议对胎儿染色体进行核型分析及CNV高通量测序检测,降低缺陷儿出生率。
Objective: To investigate the correlation between abnormal structure of prenatal ultrasound and chromosome copy number variation(CNV), so as to provide a suitable prenatal diagnosis strategy for pregnant women with abnormal structure in pregnancy. Methods: A retrospective analysis was carried out in 837 pregnant women with high throughput sequencing of chromosomes in our hospital. Through different prenatal diagnostic indications, the correlation between abnormal structural indications of ultrasound examination and the CNV of high throughput sequencing in pregnancy was evaluated. Results: The gestational ultrasonic indications in the CNV of high throughput sequencing were 79.4%. Compared with the previous single fetal chromosome karyotype analysis, 4.1% chromosomal abnormalities could be found by high throughput sequencing CNV detection. Conclusion: The abnormal ultrasound structure during pregnancy or the soft indexes of multiple ultrasound suggests the analysis of fetal chromosome karyotype and high throughput sequencing CNV detection is necessary, which can improve the prenatal diagnosis rate and decrease the incidence of birth defects.
Objective: To investigate the correlation between abnormal structure of prenatal ultrasound and chromosome copy number variation(CNV), so as to provide a suitable prenatal diagnosis strategy for pregnant women with abnormal structure in pregnancy. Methods: A retrospective analysis was carried out in 837 pregnant women with high throughput sequencing of chromosomes in our hospital. Through different prenatal diagnostic indications, the correlation between abnormal structural indications of ultrasound examination and the CNV of high throughput sequencing in pregnancy was evaluated. Results: The gestational ultrasonic indications in the CNV of high throughput sequencing were 79.4%. Compared with the previous single fetal chromosome karyotype analysis, 4.1% chromosomal abnormalities could be found by high throughput sequencing CNV detection. Conclusion: The abnormal ultrasound structure during pregnancy or the soft indexes of multiple ultrasound suggests the analysis of fetal chromosome karyotype and high throughput sequencing CNV detection is necessary, which can improve the prenatal diagnosis rate and decrease the incidence of birth defects.
引文
[1]de Wit MC,Srebniak MI,Govaerts LC,et al.Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype:a systematic review of the literature[J].Ultrasound Obstet Gynecol,2014,43(2):139-146.
[2]Srebniak MI,Diderich KE,Joosten M,et al.Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies:causative,unexpected and susceptibility CNVs[J].Eur J Hum Genet,2016,24(5):645-651.
[3]de Wit MC,Boekhorst F,Mancini GM,et al.Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound[J].Prenat Diagn,2017,37(12):1191-1197.
[4]Lovrecic L,Remec ZI,Volk M,et al.Clinical utility of array comparative genomic hybridisation in prenatal setting[J].BMCMed Genet,2016,17(1):81.
[5]李胜利.胎儿畸形产前超声诊断学[M].北京:人民军医出版社,2004:123-589.
[6]Nicolaides KH,Azar G,Byrne D,et al.Fetal nuchal translucency:ultrasound screening for chromosomal defects in first trimester of regnancy[J].BMJ,1992,304(6381):867-869.
[7]边旭明,朱宝生,刘俊涛,等.胎儿常见染色体异常与开放性神经管缺陷的产前筛查与诊断技术标准第2部分:胎儿染色体异常的细胞遗传学产前诊断技术标准[J].中国产前诊断杂志:电子版,2011,3(4):46-50.
[8]South ST,Lee C,Lamb AN,et al.ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis,including postnatal and prenatal applications:revision 2013[J].Genet Med,2013,15(11):901-909.
[9]Nicolaides KH.Screening for chromosomal defects[J].Ultrasound Obstet Gynecol,2003,21(4):313-321.
[10]商梅娇,周祎,鲁云涯,等.122例胎儿肾盂扩张与染色体非整倍体的关联性分析[J].中山大学学报:医学科学版,2013,34(1):99-103.
[11]Steele M,Breg WR Jr.Chromosome analysis of human amniotic-fluid cells[J].Lancet,1966,1(7434):383-385.
[12]Gao J.Clinical investigation of chromosomal karyotype analysis in cells cultured from fetal bladder puncture liquid[J].Exp Ther Med,2017,14(3):1879-1883.
[13]朱蕊,曾爱群,杜晶春.高危孕妇572例妊娠中期羊水细胞染色体核型分析[J].实用医学杂志,2016,32(18):3050-3052.
[14]马京梅,杨慧霞.染色体微阵列技术在产前诊断中的应用[J].中国实用妇科与产科杂志,2014,30(8):648-651.
[15]Jansen FA,Blumenfeld YJ,Fisher A,et al.Array Comparative Genomic Hybridization and Fetal Congenital Heart Defects-Asystematic review and meta-analysis[J].Ultrasound Obstet Gynecol,2015,45(1):27-35.
[16]Reddy UM,Page GP,Saade GR,et al.Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth[J].N Engl J Med,2012,367(23):2185-2193.
[2]Srebniak MI,Diderich KE,Joosten M,et al.Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies:causative,unexpected and susceptibility CNVs[J].Eur J Hum Genet,2016,24(5):645-651.
[3]de Wit MC,Boekhorst F,Mancini GM,et al.Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound[J].Prenat Diagn,2017,37(12):1191-1197.
[4]Lovrecic L,Remec ZI,Volk M,et al.Clinical utility of array comparative genomic hybridisation in prenatal setting[J].BMCMed Genet,2016,17(1):81.
[5]李胜利.胎儿畸形产前超声诊断学[M].北京:人民军医出版社,2004:123-589.
[6]Nicolaides KH,Azar G,Byrne D,et al.Fetal nuchal translucency:ultrasound screening for chromosomal defects in first trimester of regnancy[J].BMJ,1992,304(6381):867-869.
[7]边旭明,朱宝生,刘俊涛,等.胎儿常见染色体异常与开放性神经管缺陷的产前筛查与诊断技术标准第2部分:胎儿染色体异常的细胞遗传学产前诊断技术标准[J].中国产前诊断杂志:电子版,2011,3(4):46-50.
[8]South ST,Lee C,Lamb AN,et al.ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis,including postnatal and prenatal applications:revision 2013[J].Genet Med,2013,15(11):901-909.
[9]Nicolaides KH.Screening for chromosomal defects[J].Ultrasound Obstet Gynecol,2003,21(4):313-321.
[10]商梅娇,周祎,鲁云涯,等.122例胎儿肾盂扩张与染色体非整倍体的关联性分析[J].中山大学学报:医学科学版,2013,34(1):99-103.
[11]Steele M,Breg WR Jr.Chromosome analysis of human amniotic-fluid cells[J].Lancet,1966,1(7434):383-385.
[12]Gao J.Clinical investigation of chromosomal karyotype analysis in cells cultured from fetal bladder puncture liquid[J].Exp Ther Med,2017,14(3):1879-1883.
[13]朱蕊,曾爱群,杜晶春.高危孕妇572例妊娠中期羊水细胞染色体核型分析[J].实用医学杂志,2016,32(18):3050-3052.
[14]马京梅,杨慧霞.染色体微阵列技术在产前诊断中的应用[J].中国实用妇科与产科杂志,2014,30(8):648-651.
[15]Jansen FA,Blumenfeld YJ,Fisher A,et al.Array Comparative Genomic Hybridization and Fetal Congenital Heart Defects-Asystematic review and meta-analysis[J].Ultrasound Obstet Gynecol,2015,45(1):27-35.
[16]Reddy UM,Page GP,Saade GR,et al.Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth[J].N Engl J Med,2012,367(23):2185-2193.