Cai Meiying, Lin Na, Xiao Ziheng, Huang Hailong, Zheng Lin, Xu Liangpu
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
The Clinical Laboratory Center of the Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China.
Front Pediatr. 2025 Aug 20;13:1496381. doi: 10.3389/fped.2025.1496381. eCollection 2025.
Fetal hyperechoic kidney is an important soft marker in prenatal ultrasonography; however, the causes of this phenomenon are unclear. Therefore, we analyzed genetic diagnosis results, assessed pregnancy outcomes, and conducted postnatal follow-up to provide evidence for prenatal eugenics.
We retrospectively analyzed data from 94 cases with fetal hyperechoic kidneys identified between November 2017 and January 2024. Chromosome karyotyping and chromosomal microarray analysis (CMA) were performed on fetuses displaying this phenotype on prenatal ultrasound. For cases with normal results from karyotyping and CMA, whole-exome sequencing (WES) was applied.
Among 94 fetuses with hyperechoic kidneys, five were not subject to chromosome karyotyping owing to gestational age constraints, and one sample failed to culture. Of the remaining 88, karyotyping helped detect six cases with abnormal karyotypes. Among 94 fetuses with hyperechoic kidneys, CMA analysis was performed on 90 fetuses, and 17 cases of abnormal copy number variations (CNVs) were detected. Furthermore, among 82 fetuses with normal karyotypes, 10 additional abnormal CNVs were identified. WES, performed on 13 fetuses with normal chromosomal karyotypes and CMA, helped identify three cases of mutations in , , and . Follow-up of 94 fetuses indicated that 16 were lost to follow-up. Of the 78 followed-up, 25 pregnancies were terminated, and one fetus died . Post-birth follow-up of 52 live births revealed an adverse outcome incidence of 3.85% (2/52), consisting of one neonatal death within 24 h and one case of intellectual disability.
CMA is recommended when prenatal ultrasound indicates fetal hyperechoic kidneys. For fetuses with normal CNVs and persistent hyperechoic kidneys, WES is advisable to exclude rare monogenic disorders. In cases of hyperechoic kidneys alongside other ultrasound abnormalities, the live birth rate and prognosis tend to be poor; thus, early genetic screening is essential to guide pregnancy management effectively.
胎儿肾回声增强是产前超声检查中的一项重要软指标；然而，这一现象的原因尚不清楚。因此，我们分析了基因诊断结果，评估了妊娠结局，并进行了产后随访，为产前优生学提供依据。
我们回顾性分析了2017年11月至2024年1月期间确诊的94例胎儿肾回声增强病例的数据。对产前超声显示该表型的胎儿进行染色体核型分析和染色体微阵列分析（CMA）。对于核型分析和CMA结果正常的病例，应用全外显子测序（WES）。
在94例肾回声增强的胎儿中，5例因孕周限制未进行染色体核型分析，1例样本培养失败。其余88例中，核型分析发现6例核型异常。在94例肾回声增强的胎儿中，90例进行了CMA分析，检测到17例拷贝数变异（CNV）异常。此外，在82例核型正常的胎儿中，又发现了10例异常CNV。对13例染色体核型和CMA正常的胎儿进行WES，发现3例 、 和 基因突变。对94例胎儿的随访表明，16例失访。在78例接受随访的胎儿中，25例终止妊娠，1例胎儿死亡 。对52例活产儿的产后随访显示，不良结局发生率为3.85%（2/52），包括出生后24小时内1例新生儿死亡和1例智力残疾。
当产前超声显示胎儿肾回声增强时，建议进行CMA。对于CNV正常且肾回声持续增强的胎儿，建议进行WES以排除罕见的单基因疾病。在肾回声增强并伴有其他超声异常的情况下，活产率和预后往往较差；因此，早期基因筛查对于有效指导妊娠管理至关重要。
