Zhu Xiangyu, Li Jie, Ru Tong, Zhu Ruifang, Dai Chenyan, Wang Wanjun, Hu Yali
Prenatal Diagnosis Center of Jiangsu Province, Drum Tower Hospital Affiliated to Nanjing University Medical School, Nanjing, Jiangsu 210008, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):236-239. doi: 10.3760/cma.j.issn.1003-9406.2017.02.019.
To report on a sporadic case of Lowe syndrome diagnosed prenatally with ultrasound examination and genetic testing.
Detailed sonographic fetal screening was performed by an experienced sonographer at 32 weeks of gestation. Fetal cranial magnetic resonance imaging (MRI) was applied to detect potential brain abnormality. Chromosomal microarray analysis (CMA) was conducted on amniotic fluid sample from the fetus and peripheral blood sample from the mother.
Congenital cataract and enlarged posterior fossa were detected by fetal ultrasound screening. Fetal cranial MRI found hypoplasia of the gyrus. CMA revealed that the fetus has carried a 633 kb deletion at Xq25-26.1 which encompassed the OCRL gene. The mother was a carrier of the same deletion. Clinical examination after birth confirmed that the neonate was affected with Lowe syndrome in addition with an atrial septal defect.
Prenatal diagnosis of Lowe syndrome without a family history largely depends on fetal imaging. Should cataract be found by ultrasound screening, fetal MRI may be considered to rule out central nervous system anomalies. CMA assay should also be considered to facilitate the diagnosis.
报告一例通过超声检查和基因检测在产前诊断出的散发性洛氏综合征病例。
由经验丰富的超声检查医师在妊娠32周时进行详细的胎儿超声筛查。应用胎儿头颅磁共振成像（MRI）检测潜在的脑部异常。对胎儿羊水样本和母亲外周血样本进行染色体微阵列分析（CMA）。
胎儿超声筛查发现先天性白内障和后颅窝增宽。胎儿头颅MRI发现脑回发育不全。CMA显示胎儿在Xq25 - 26.1处有一个633 kb的缺失，该缺失包含OCRL基因。母亲是相同缺失的携带者。出生后的临床检查证实该新生儿除患有房间隔缺损外，还患有洛氏综合征。
无家族史的洛氏综合征产前诊断很大程度上依赖于胎儿影像学检查。如果超声筛查发现白内障，可考虑进行胎儿MRI以排除中枢神经系统异常。也应考虑进行CMA检测以辅助诊断。
