147例单脐动脉胎儿遗传学检测及妊娠结局分析
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摘要
目的分析产前超声筛查单脐动脉胎儿的遗传基础及妊娠结局。方法对147例产前超声检查单脐动脉胎儿的超声表征,遗传学检测结果及妊娠结局进行分析。结果 147例单脐动脉胎儿经遗传检测分析,15例检出有染色体数目异常,2例检出有染色体结构异常,2例检出有致病性或可能致病性拷贝数变异,总阳性检出率达12.9%。19例阳性检出单脐动脉异常胎儿,有18例已进行引产。128例遗传检测阴性单脐动脉异常胎儿中,有69例进行顺产或剖腹产;19例引产;1例自发流产;剩余39例妊娠结局未知或失访。结论 12.9%的产前超声单脐动脉胎儿具有阳性遗传学检出结果,25.9%的单脐动脉胎儿进行引产或流产。
Objective:To investigate the genetic contribution and pregnancy outcome of fetuses with single umbilical artery.Methods:The ultrasonographic features,genetic testing and pregnancy outcomes of 147 fetuses with single umbilical artery identified by prenatal ultrasound were collected for analysis. Results:The detection rate was 12.9% among these 147 fetuses with single umbilical artery,and 15 cases with abnormal chromosome numbers,2 cases with chromosomal structural aberrations,and 2 cases with pathogenic or likely-pathogenic copy number variations(CNVs)were detected by genetic testing. For these 19 fetuses with positive genetic results,18 cases of them were induced labor. For the other 128 cases with negative genetic findings,69 fetuses of them were born by spontaneous delivery or caesarean section,19 cases of them were induced labor,1 case was miscarriages,and the rest 39 cases had unknown or missed pregnancy outcomes. Conclusions:12.9% cases with prenatal ultrasound had positive genetic findings,25.9% cases of them were induced labor or miscarriages
Objective:To investigate the genetic contribution and pregnancy outcome of fetuses with single umbilical artery.Methods:The ultrasonographic features,genetic testing and pregnancy outcomes of 147 fetuses with single umbilical artery identified by prenatal ultrasound were collected for analysis. Results:The detection rate was 12.9% among these 147 fetuses with single umbilical artery,and 15 cases with abnormal chromosome numbers,2 cases with chromosomal structural aberrations,and 2 cases with pathogenic or likely-pathogenic copy number variations(CNVs)were detected by genetic testing. For these 19 fetuses with positive genetic results,18 cases of them were induced labor. For the other 128 cases with negative genetic findings,69 fetuses of them were born by spontaneous delivery or caesarean section,19 cases of them were induced labor,1 case was miscarriages,and the rest 39 cases had unknown or missed pregnancy outcomes. Conclusions:12.9% cases with prenatal ultrasound had positive genetic findings,25.9% cases of them were induced labor or miscarriages
引文
[1]Gurram P,Figueroa R,Sipusic E,et al. Isolated Single Umbilical Artery and Fetal Echocardiography:A 25-Year Experience at a Tertiary Care City Hospital[J]. J Ultrasound Med,2018,37(2):463-468.
[2]Luo X,Zhai S,Shi N,et al. The Risk Factors and Neonatal outcomes of Isolated Single Umbilical Artery in Singleton Pregnancy:A Meta-analysis[J]. Sci Rep,2017,7(1):7396..
[3]Kim HJ,Kim JH,Chay DB,,et al. Association of isolated single umbilical artery with perinatal outcomes:Systemic review and meta-analysis[J]. Obstet Gynecol Sci,2017,60(3):266-273..
[4]Xu Y,Ren L,Zhai S,et al. Association Between Isolated Single Umbilical Artery and Perinatal Outcomes:A Meta-Analysis[J].Med Sci Monit,2016,22:1451-9.
[5]JoóJG,Beke A,Papp Z,et al. Single umbilical artery in fetopathological investigations[J].Pathol Res Pract,2008,204(11):831-6.
[6]Martínez-Frías ML,Bermejo E,Rodríguez-Pinilla E,et al.Does single umbilical artery(SUA)predict any type of congenital defect? Clinical-epidemiological analysis of a large consecutive series of malformed infants[J]. Am J Med Genet A,2008,146A(1):15-25.
[7]Meizner I,Sherizly I,Mashiach R,et al. Prenatal sonographic diagnosis of laryngeal atresia in association with single umbilical artery[J]. J Clin Ultrasound,2000,28(8):435-8.
[8]吴轲,唐少华,陈冲,等.产前超声异常胎儿的全基因组拷贝数变异分析[J].中华医学遗传学杂志,2017,34(2):178-182.Doi:10.3760/cma.j.issn.1003-9406.2017.02.005.
[9]付春云,范歆,罗仕玉,等.不明原因智力障碍64例全基因组拷贝数变异分析[J].中华实用儿科临床杂志,2017,32(12):924-927. doi:10.3760/cma.j.issn.2095-428X. 2017.12.011.
[10] Mailath-Pokorny M,Worda K,Schmid M,et al. Isolated single umbilical artery:evaluating the risk of adverse pregnancy outcome[J]. Eur J Obstet Gynecol Reprod Biol,2015,184:80-3.
[11] Baron J,Weintraub AY,Sciaky Y,et al. Umbilical artery blood flows among pregnancies with single umbilical artery:a prospective case-control study[J]. J Matern Fetal Neonatal Med,2015,28(15):1803-5.
[12] Martínez-Payo C,Cabezas E,Nieto Y,et al. Detection of single umbilical artery in the first trimester ultrasound:its value as a marker of fetal malformation[J]. Biomed Res Int,2014,548729.
[13] Cade TJ,Da Silva Costa F,Reidy K,et al. Pregnancy prognosis associated with an isolated single umbilical artery in twin pregnancy[J]. Twin Res Hum Genet,2014,17(6):584-8.
[2]Luo X,Zhai S,Shi N,et al. The Risk Factors and Neonatal outcomes of Isolated Single Umbilical Artery in Singleton Pregnancy:A Meta-analysis[J]. Sci Rep,2017,7(1):7396..
[3]Kim HJ,Kim JH,Chay DB,,et al. Association of isolated single umbilical artery with perinatal outcomes:Systemic review and meta-analysis[J]. Obstet Gynecol Sci,2017,60(3):266-273..
[4]Xu Y,Ren L,Zhai S,et al. Association Between Isolated Single Umbilical Artery and Perinatal Outcomes:A Meta-Analysis[J].Med Sci Monit,2016,22:1451-9.
[5]JoóJG,Beke A,Papp Z,et al. Single umbilical artery in fetopathological investigations[J].Pathol Res Pract,2008,204(11):831-6.
[6]Martínez-Frías ML,Bermejo E,Rodríguez-Pinilla E,et al.Does single umbilical artery(SUA)predict any type of congenital defect? Clinical-epidemiological analysis of a large consecutive series of malformed infants[J]. Am J Med Genet A,2008,146A(1):15-25.
[7]Meizner I,Sherizly I,Mashiach R,et al. Prenatal sonographic diagnosis of laryngeal atresia in association with single umbilical artery[J]. J Clin Ultrasound,2000,28(8):435-8.
[8]吴轲,唐少华,陈冲,等.产前超声异常胎儿的全基因组拷贝数变异分析[J].中华医学遗传学杂志,2017,34(2):178-182.Doi:10.3760/cma.j.issn.1003-9406.2017.02.005.
[9]付春云,范歆,罗仕玉,等.不明原因智力障碍64例全基因组拷贝数变异分析[J].中华实用儿科临床杂志,2017,32(12):924-927. doi:10.3760/cma.j.issn.2095-428X. 2017.12.011.
[10] Mailath-Pokorny M,Worda K,Schmid M,et al. Isolated single umbilical artery:evaluating the risk of adverse pregnancy outcome[J]. Eur J Obstet Gynecol Reprod Biol,2015,184:80-3.
[11] Baron J,Weintraub AY,Sciaky Y,et al. Umbilical artery blood flows among pregnancies with single umbilical artery:a prospective case-control study[J]. J Matern Fetal Neonatal Med,2015,28(15):1803-5.
[12] Martínez-Payo C,Cabezas E,Nieto Y,et al. Detection of single umbilical artery in the first trimester ultrasound:its value as a marker of fetal malformation[J]. Biomed Res Int,2014,548729.
[13] Cade TJ,Da Silva Costa F,Reidy K,et al. Pregnancy prognosis associated with an isolated single umbilical artery in twin pregnancy[J]. Twin Res Hum Genet,2014,17(6):584-8.