泌尿系统异常胎儿的遗传学检测及妊娠结局分析

Genetic testing and pregnancy outcome of 337 fetuses with urinary system anomalies

目的分析产前超声筛查泌尿系统异常胎儿的超声表征,探讨泌尿系统异常胎儿的遗传基础及妊娠结局。方法对2016年2月至2017年5月在广西壮族自治区妇幼保健院产前超声检查中检出泌尿系统异常的337例胎儿的超声表征、遗传学检测结果及妊娠结局进行分析。结果泌尿系统异常胎儿的超声表征以肾盂增宽(或肾积水)、肾脏多囊性病变和肾发育不良最为常见。337例产前超声检查泌尿系统异常胎儿经遗传检测分析,14例检出有染色体数目异常,10例检出有染色体结构异常,10例检出有致病性或可能致病性拷贝数变异,总阳性检出率10.1%。34例阳性检出泌尿系统异常胎儿,有31例进行引产。303例遗传检测阴性泌尿系统异常胎儿中,有142例进行顺产或剖腹产;48例引产;1例自发流产;剩余112例妊娠结局未知或失访。结论泌尿系统异常胎儿的超声表征以肾盂增宽(或肾积水)、肾脏多囊性病变和肾发育不良最为常见,10.1%的产前超声泌尿系统异常胎儿具有阳性遗传学检出结果。

Objective To explore the genetic basis and pregnancy outcome of fetuses with urinary system anomalies. Methods Ultrasonographic features, genetic testing and pregnancy outcomes of 337 fetuses with urinary system anomalies identified by prenatal ultrasonograhy were collected for analysis. Results Sonographic features of the fetuses were mainly characterized by hydronephrosis or hydronephrosis, polycystic kidney disease, and renal dysplasia. Thirty four fetuses (10.1%) were found to harbor a genetic defect, including 14 numerical chromosomal disorders, 10 structural chromosomal aberrations, and 10 pathogenic copy number variations (CNVs). In 31 cases, the parents elected induced labor. For the 303 fetuses with negative findings, 142 were born by spontaneous delivery or Caesarean section, 48 cases underwent induced labor, 1 case had miscarriage, and the remaining 112 cases had unknown or missed pregnancy outcomes. Conclusion Hydronephrosis or hydronephrosis, polycystic kidney disease, and renal dysplasia are the most common findings among fetuses with urinary system anomalies. Approximately 10.1% of such fetuses are positive by genetic testing.