| 张会萍,周毓青,郭苑青,冯丽云,何碧媛.胎儿先天性肾脏异常孕中期超声表现及遗传学异常[J].中国医学影像技术,2023,39(12):1775~1778 |
| 胎儿先天性肾脏异常孕中期超声表现及遗传学异常 |
| Ultrasonic manifestations and genetic abnormalities in the second trimester of pregnancy of fetal congenital kidney anomalies |
| 投稿时间：2023-08-14 修订日期：2023-10-23 |
| DOI：10.13929/j.issn.1003-3289.2023.12.004 |
| 中文关键词: 胎儿 肾疾病 基因 染色体 超声检查 |
| 英文关键词:fetus kidney diseases genes chromosomes ultrasonography |
| 基金项目:上海市长宁区科学技术委员会科研课题计划（CNKW2022Y34）、上海市长宁区妇幼保健院院级启动项目（2020Y-14）。 |
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| 中文摘要: |
| 目的 观察先天性肾脏异常（CKA）胎儿孕中期超声表现及遗传学异常。方法 纳入接受孕中期产前超声检查并经遗传学检查证实的14例单胎胎儿CKA孕妇，观察胎儿孕中期超声表现及其遗传学异常。结果 孕中期超声检出10胎单纯肾脏异常、4胎肾脏异常合并肾外异常，表现为肾回声增强、肾盂分离及异位肾等；遗传学检查显示4胎染色体核型异常，8胎染色体拷贝数异常，2胎基因突变。结论 胎儿CKA孕中期超声表现包括肾回声增强、肾盂分离及异位肾等；即便超声异常表现并不明显，亦可合并严重染色体或基因异常。 |
| 英文摘要: |
| Objective To observe the ultrasonic manifestations and genetic abnormalities in the second trimester of pregnancy of fetal congenital kidney anomalies (CKA). Methods Totally 14 singleton pregnancy women with CKA fetus detected with prenatal ultrasound and proved by genetic examination who underwent prenatal ultrasound in the second trimester of pregnancy were enrolled. The ultrasonic manifestations and genetic abnormalities in the second trimester of pregnancy were observed.Results Among 14 fetuses, simple renal abnormalities were detected in 10, while renal abnormalities complicated with extrarenal abnormalities were noticed in 4 fetuses with prenatal ultrasound in the second trimester of pregnancy, presented as enhanced renal echoes, renal pelvis separation and ectopic kidney, etc. Genetic examination showed chromosomal karyotype abnormalities in 4 fetuses, chromosomal copy number abnormalities in 8 fetuses, and genetic mutations in 2 fetuses. Conclusion The ultrasonic manifestations in the second trimester of pregnancy of fetal CKA included enhanced renal echo, renal pelvis separation and ectopic kidney, etc. Severe chromosomal or genetic abnormalities could exist even when the relative manifestations were not obvious. |
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