探讨胎儿先天性白内障(CC)的超声影像学特征及预后。

选择2018年1月至2021年12月，于胎龄为23⁺⁴~28周时，被四川大学华西第二医院超声科诊断为CC的6例胎儿(胎儿1~6)，以及胎龄为30⁺¹周时于外院被诊断为CC后转诊至本院的1例胎儿(胎儿7)为研究对象。采用回顾性研究方法，对这7例CC胎儿的超声影像学特征及预后进行分析。

①胎儿CC超声影像学特征：这7例CC胎儿中，4例(胎儿1、3、5、6)晶状体呈完全性高回声，2例(胎儿3、7)晶状体呈点、片状高回声，1例(胎儿2)晶状体呈环状高回声。②胎儿母亲：均否认孕期有放射性物质、化学药品等有毒、有害物质接触史；2例(胎儿3、5)直系亲属有白内障患病史；3例母亲(胎儿1、3、6)孕期确诊阴道炎，其中1例母亲(胎儿1)早孕期于外院确诊为阴道炎后曾外用药物治疗(具体药物不详)，另外2例母亲(胎儿3、6)确诊阴道炎后未采取任何治疗措施。③胎儿妊娠结局及预后：5例(胎儿2、3、5~7)为单纯CC，2例(胎儿1、4)合并其他系统结构畸形。6例(胎儿1~6)被引产终止妊娠，其中胎儿1、4为多发畸形胎儿，对其进行全外显子测序分析显示，胎儿4发生与CC相关的可能致病性变异COL4AI基因C.268G>T变异，胎儿1未发现与CC相关的明确致病性或可能致病性变异，其余4例未进行基因检测。胎儿7于胎龄为37周时采取择期剖宫产术分娩，于出生后4周进行CC手术治疗。

胎儿CC是晶状体发育异常的一类疾病，产前超声表现为完全性高回声，点、片状或环状高回声。产前超声诊断胎儿CC可为其产前咨询及尽早治疗提供重要信息。

To investigate ultrasonic imaging characteristics and prognosis of fetal congenital cataract (CC).

From January 2018 to December 2021, a total of 7 cases of fetuses with CC (fetus 1-7) [six fetuses (fetus 1-6) were diagnosed as CC at gestational age of 23^{+ 4}-28 weeks by prenatal ultrasound in Department of Ultrasound, West China Second University Hospital, Sichuan University, and one fetus (fetus 7) was diagnosed as CC in another hospital at the gestational age of 30^{+ 1} weeks and was transferred to our hospital] were selected as research subjects. The ultrasonographic characteristics and prognosis of those 7 cases of CC fetuses were analyzed retrospectively.

①Ultrasonographic characteristics of fetal CC: fetal lens of 4 cases (fetus 1, 3, 5, 6) showed complete hyperechogenicity, 2 cases (fetus 3, 7) showed dot and sheet hyperechogenicity, and 1 case (fetus 2) showed annular hyperechogenicity. ②Pregnant mothers: all denied once exposure to radioactive substances, chemicals and other toxic and harmful substances during pregnancy. Lineal relation of two cases (fetus 3, 5) had a history of cataract. Pregnant mothers of three cases (fetus 1, 3, 6) were diagnosed with vaginitis during pregnancy, and pregnant mother of fetus 1 was diagnosed with vaginitis in the other hospital during early pregnancy and was treated with external application drugs (unknown of detail drugs), and pregnant mothers of fetus 3 and 6 did not receive any treatment for vaginitis. ③Fetal pregnancy outcome and prognosis: 5 cases (fetus 2, 3, 5, 7) were isolated CC, 2 cases (fetus 1, 4) were combined with other structural malformations. Six cases (fetus 1-6) were induced to terminate pregnancy, fetus 1 and 4 with multiple malformations underwent full exon sequencing analysis, and fetus 4 had COL4AI gene C. 268G>T variation which was a possible pathogenic variant associated with CC, no definite or possible pathogenic variation related to CC was found in fetus 1. The other 4 fetuses did not receive gene test. Fetus 7 was delivered by elective cesarean section at gestational age of 37 weeks, and CC operation was performed 4 weeks after birth.

Fetal CC is a kind of disease with abnormal lens development. Prenatal ultrasound shows complete hyperechogenicity, dot, sheet or ring hyperechogenicity. Prenatal ultrasound diagnosis of CC fetus can provide important information for prenatal consultation, early treatment for CC.