172例先天性心脏异常胎儿遗传学检测分析
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摘要
目的分析胎儿先天性心脏异常的遗传学检测结果及妊娠结局。方法对172例产前超声检查心脏异常胎儿的超声征象、遗传学检测结果及妊娠结局进行回顾性分析。结果 172例产前超声检查心脏异常胎儿经遗传学检测分析,检出染色体数目异常51例,染色体结构异常6例,致病性拷贝数变异5例,共检查出阳性62例,阳性检出率达36.0%。62例阳性检出胎儿全部引产;110例检测未见异常者有23例直接引产,45例顺产或剖腹产,剩余42例妊娠结局尚且待定。结论 36.0%的先天性心脏异常胎儿具有阳性遗传学检出结果,主要以染色体数目异常为主要病因。产前超声筛查及遗传学分析可早期发现胎儿心脏及其它先天异常,能有效降低先天畸形胎儿出生率,并为临床医生进行相应处理提供指导。
Objective To examine the genetic testing and pregnancy outcomes of fetuses with congenital heart defects(CHD). Methods The ultrasonographic features, genetic testing and pregnancy outcomes of 172 fetuses with CHD were retrospectively analyzed. Results Of the 172 CHD fetuses diagnosed by untrasonography, 51 cases were genetically identified as aneuploidy, 6 as abnormality of chromosomal structure and 5 as pathogenic copy-number variations(CNVs), with a detection rate of 36%. The induced labor was performed in these 62 positive cases. Among 110 fetuses with negative genetic findings, there were 45 cases born by spontaneous delivery or caesarean section, 23 cases of induced labor, and 42 cases of unknown pregnancy outcomes. Conclusion Among ultrasonography-diagnosed CHD fetuses, 36% have positive genetic testing and aneuploidy is the leading finding in this series. The study suggests that prenatal ultrasonography and genetic testing may be effective to reduce the birth rate of CHD fetuses
Objective To examine the genetic testing and pregnancy outcomes of fetuses with congenital heart defects(CHD). Methods The ultrasonographic features, genetic testing and pregnancy outcomes of 172 fetuses with CHD were retrospectively analyzed. Results Of the 172 CHD fetuses diagnosed by untrasonography, 51 cases were genetically identified as aneuploidy, 6 as abnormality of chromosomal structure and 5 as pathogenic copy-number variations(CNVs), with a detection rate of 36%. The induced labor was performed in these 62 positive cases. Among 110 fetuses with negative genetic findings, there were 45 cases born by spontaneous delivery or caesarean section, 23 cases of induced labor, and 42 cases of unknown pregnancy outcomes. Conclusion Among ultrasonography-diagnosed CHD fetuses, 36% have positive genetic testing and aneuploidy is the leading finding in this series. The study suggests that prenatal ultrasonography and genetic testing may be effective to reduce the birth rate of CHD fetuses
引文
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[14]Stingone JA,Luben TJ,Carmichael SL,et al.Maternal Exposure to Nitrogen Dioxide,Intake of Methyl Nutrients,and Congenital Heart Defects in Offspring[J].Am J Epidemiol,2017,186(6):719-729.
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[16]Goldmuntz E,Cassedy A,Mercer-Rosa L,et al.Exercise Performance and 22q11.2 Deletion Status Affect Quality of Life in Tetralogy of Fallot[J].J Pediatr,2017,189:162-168.
[17]Wang X,Bryan C,LaMantia AS,et al.Altered neurobiological function of brainstem hypoglossal neurons in DiGeorge/22q11.2Deletion Syndrome[J].Neuroscience,2017,359:1-7.
[18]Barry JC,Crowley TB,Jyonouchi S,et al.Identification of 22q11.2Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency[J].J Clin Immunol,2017,37(5):476-485.
[2]El-Gilany AH,Yahia S,Wahba Y.Prevalence of congenital heart diseases in children with Down syndrome in Mansoura,Egypt:a retrospective descriptive study[J].Ann Saudi Med,2017,37(5):386-392.
[3]Almawazini AM,Hanafi HK,Madkhali HA,et al.Effectiveness of the critical congenital heart disease screening program for early diagnosis of cardiac abnormalities in newborn infants[J].Saudi Med J,2017,38(10):1019-1024.
[4]Calderon J,Willaime M,Lelong N,et al.Population-based study of cognitive outcomes in congenital heart defects[J].Arch Dis Child,2017,2016:310830.
[5]Monteiro RAC,de Freitas ML,Vianna GS,et al.Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease:The Use of MLPA as the First Genetic Test[J].Mol Syndromol,2017,8(5):227-235.
[6]Guo QN,Wang HD,Tie LZ,et al.Parental Genetic Variants,MTHFR 677C>T and MTRR 66A>G,Associated Differently with Fetal Congenital Heart Defect[J].Biomed Res Int,2017,2017:3043476.
[7]Shahzad M,Waqar T,Irfan Waheed KA,et al.Pulse oximetry as a screening tool for critical congenital heart defects in newborns[J].J Pak Med Assoc,2017,67(8):1220-1223.
[8]Rentmeester ST,Pringle J,Hogue CR.An Evaluation of the Addition of Critical Congenital Heart Defect Screening in Georgia Newborn Screening Procedures[J].Matern Child Health J,2017,21(11):2086-2091.
[9]Votava-Smith JK,Statile CJ,Taylor MD,et al.Impaired cerebral autoregulation in preoperative newborn infants with congenital heart disease[J].J Thorac Cardiovasc Surg,2017,154(3):1038-1044.
[10]Xie D,Wang H,Liu Z,et al.Perinatal outcomes and congenital heart defect prognosis in 53313 non-selected perinatal infants[J].PLoS One,2017,12(6):e0177229.
[11]Parikh LI,Grantz KL,Iqbal SN,et al.Neonatal outcomes in fetuses with cardiac anomalies and the impact of delivery route[J].Am J Obstet Gynecol,2017,217(4):469(e1-e12).
[12]Wei YJ,Liu BM,Zhou YH,et al.Spectrum and features of congenital heart disease in Xi'an,China as detected using fetal echocardiography[J].Genet Mol Res,2014,13(4):9412-9420.
[13]Yuan Y,Yu X,Niu F,et al.Genetic polymorphism of methylenetetrahydrofolate reductase as a potential risk factor for congenital heart disease:A meta-analysis in Chinese pediatric population[J].Medicine(Baltimore),2017,96(23):e7057.
[14]Stingone JA,Luben TJ,Carmichael SL,et al.Maternal Exposure to Nitrogen Dioxide,Intake of Methyl Nutrients,and Congenital Heart Defects in Offspring[J].Am J Epidemiol,2017,186(6):719-729.
[15]Leon LE,Benavides F,Espinoza K,et al.Partial microduplication in the histone acetyltransferase complex member KANSL1is associated with congenital heart defects in 22q11.2microdeletion syndrome patients[J].Sci Rep,2017,7(1):1795.
[16]Goldmuntz E,Cassedy A,Mercer-Rosa L,et al.Exercise Performance and 22q11.2 Deletion Status Affect Quality of Life in Tetralogy of Fallot[J].J Pediatr,2017,189:162-168.
[17]Wang X,Bryan C,LaMantia AS,et al.Altered neurobiological function of brainstem hypoglossal neurons in DiGeorge/22q11.2Deletion Syndrome[J].Neuroscience,2017,359:1-7.
[18]Barry JC,Crowley TB,Jyonouchi S,et al.Identification of 22q11.2Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency[J].J Clin Immunol,2017,37(5):476-485.