多囊性肾脏发育不良胎儿的遗传学病因、影像学表现及妊娠结局分析

目的 探究多囊性肾脏发育不良胎儿的遗传学病因、影像学表现及妊娠结局。方法 回顾性分析2017年5月—2023年5月扬州大学附属淮安市妇幼保健院收治的80例多囊性肾脏发育不良胎儿的临床资料，分析其遗传学病因、影像学表现及妊娠结局。结果 80例多囊性肾脏发育不良胎儿中检出11例（13.75%）染色体异常，其中染色体数目异常1例（1.25%），10例（12.50%）存在染色体拷贝数变异（CNV）。80例多囊性肾脏发育不良胎儿中，39例（48.75%）为左侧多囊性发育不良肾，37例（46.25%）为右侧多囊性发育不良肾，剩余4例（5.00%）为双侧多囊性发育不良肾；单纯泌尿系统异常64例（80.00%），合并其他系统异常16例（20.00%），以心血管系统异常（8例）、肢体骨骼异常（3例）和、神经系统异常（3例）最常见。单纯性泌尿系统异常胎儿、合并其他系统异常胎儿的致病性CNV检出率分别为10.94%（7/64）和12.50%（2/16），差异无统计学意义（P >0.05）。单纯性泌尿系统异常胎儿中，单侧多囊性发育不良胎儿、双侧多囊性发育不良胎儿的致病性CNV检出率分别为9.84%（6/61）和33.33%（1/3），差异无统计学意义（P >0.05）。对80例多囊性肾脏发育不良胎儿进行随访，失访8例（10.00%），人工终止妊娠31例（38.75%），胎死宫内0例（0.00%），活产41例（51.25%），其中产后死亡1例（1.25%）。结论 多囊性肾脏发育不良胎儿采用染色体微阵列分析技术可提高遗传学检出率，影像学检查在多囊性肾脏发育不良诊断中具有一定价值，可为多囊性肾脏发育不良胎儿的产前诊断、遗传咨询、预后评估提供依据。

Analysis of genetic causes, imaging manifestations, and outcomes in fetal multicystic dysplastic kidney

Objective To analyze the genetic causes, imaging manifestations, and outcomes of fetal multicystic dysplastic kidney.Methods We retrospectively collected clinical data of 80 fetuses with multicystic dysplastic kidney admitted to our hospital from May 2017 to May 2023, and analyzed their genetic causes, imaging manifestations, and outcomes.Results Out of 80 fetuses with multicystic dysplastic kidney, 11 cases (13.75%) were detected with chromosomal abnormalities, including 1 case (1.25%) with numerical abnormalities and 10 cases (12.50%) with chromosomal copy number variation (CNV). Among the 80 fetuses with multicystic dysplastic kidney, there were 39 fetuses with left multicystic dysplastic kidney (48.75%), 37 fetuses with right multicystic dysplastic kidney (46.25%), and 4 fetuses with bilateral multicystic dysplastic kidney (5.00%). Sixty-four cases (80.00%) of the fetuses had abnormalities only in the urinary system, and 16 cases (20.00%) of the fetuses were complicated with abnormalities in other systems, among which those in the cardiovascular system (8 cases), the limb skeleton (3 cases) and the nervous system (3 cases) were the most common. The detection rates of the pathogenic CNV in fetuses with abnormalities only in the urinary system and those combined with abnormalities in other systems were 10.94% (7/64) and 12.50% (2/16), with no statistically significant difference (P > 0.05). Among fetuses with abnormalities only in the urinary system, the detection rates of the pathogenic CNV in fetuses with unilateral and bilateral multicystic dysplastic kidney were 9.84% (6/61) and 33.33% (1/3), with no statistically significant difference (P > 0.05). The follow-up on the 80 fetuses with multicystic dysplastic kidney found 8 cases lost to follow-up (10.00%), 31 cases of artificial termination of pregnancy (38.75%), none of intrauterine fetal death (0.00%), 41 cases of live birth (51.25%), and 1 case of neonatal death (1.25%).Conclusions Chromosomal microarray analysis may increase the detection rate of fetal multicystic dysplastic kidney. Imaging examination is of certain value in the diagnosis of multicystic dysplastic kidney, and provides a basis for prenatal diagnosis, genetic counseling and prognosis evaluation for fetal multicystic dysplastic kidney.