Department of Ultrasound, Shenzhen Maternity & Child Healthcare Hospital, The First School of Clinical Medicine, Southern Medical University, Shenzhen, China.
Department of Ultrasound, Xiamen Maternal＆Child HealthCare Hospital, Xiamen, China.
Ultraschall Med. 2022 Dec;43(6):e125-e134. doi: 10.1055/a-1320-0799. Epub 2021 Mar 16.
To describe the prenatal ultrasonographic characteristics and perinatal outcomes of congenital cataract.
We analyzed congenital cataract diagnosed prenatally at four referral centers between August 2004 and February 2019. The diagnosis was confirmed by postnatal ophthalmologic evaluation of liveborn infants or autopsy for terminated cases. Maternal demographics, genetic testing results, prenatal ultrasound images, and perinatal outcomes were abstracted.
Total of 41 cases of congenital cataract diagnosed prenatally among 788 751 women undergoing anatomic survey. Based on the sonographic characteristics, 16/41 (39.0 %) had a dense echogenic structure, 15/41 (36.6 %) had a hyperechogenic spot and 10/41 (24.4 %) had the "double ring" sign. 17/41 (41.5 %) were isolated, and 24/41 (58.5 %) had associated intraocular and extraocular findings. Microphthalmia, cardiac abnormalities, and central nervous system abnormalities were the most common associated abnormalities. Regarding potential etiology, 6 cases had a known family history of congenital cataract, 4 cases had confirmed congenital rubella infection, and 2 cases had aneuploidy. 31/41 (75.6 %) elected termination and 10/41 (24.4 %) elected to continue their pregnancy. Among the 10 cases, one case died, one case was lost to follow-up, and the remaining 8 cases were referred for ophthalmologist follow-up and postnatal surgery.
Once fetal cataracts are detected, a detailed fetal anatomy survey to rule out associated abnormalities and a workup to identify the potential etiology are recommended. Prenatal diagnosis of congenital cataracts provides vital information for counseling and subsequent management.
描述先天性白内障的产前超声特征和围产结局。
我们分析了 2004 年 8 月至 2019 年 2 月期间在四个转诊中心产前诊断为先天性白内障的病例。通过对活产儿的产后眼科评估或对终止妊娠病例的尸检来确诊。我们提取了患者的母亲人口统计学资料、基因检测结果、产前超声图像和围产结局等数据。
在 788751 例行解剖学筛查的孕妇中，共诊断出 41 例先天性白内障。根据超声特征，16/41（39.0%）例表现为致密的强回声结构，15/41（36.6%）例表现为强回声点，10/41（24.4%）例表现为“双环”征。17/41（41.5%）例为孤立性白内障，24/41（58.5%）例伴有眼内和眼外异常。小眼球、心脏异常和中枢神经系统异常是最常见的相关异常。在潜在病因方面，6 例有已知的先天性白内障家族史，4 例有确诊的先天性风疹感染，2 例有非整倍体。31/41（75.6%）例选择终止妊娠，10/41（24.4%）例选择继续妊娠。在这 10 例中，1 例死亡，1 例失访，其余 8 例转至眼科医生处进行随访和产后手术。
一旦发现胎儿白内障，建议进行详细的胎儿解剖学检查以排除相关异常，并进行潜在病因的检查。先天性白内障的产前诊断为咨询和后续管理提供了重要信息。
