title: [Prenatal diagnosis and follow-up of a case with Lowe syndrome caused by interstitial deletion of Xq25-26].
abstract: OBJECTIVE
  To report on a sporadic case of Lowe syndrome diagnosed prenatally with ultrasound examination and genetic testing.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Prenatal Diagnosis Center of Jiangsu Province, Drum Tower Hospital Affiliated to Nanjing University Medical School, Nanjing, Jiangsu 210008, China. glyyhuyali@163.com.
authors.forename: Xiangyu
authors.initials: X
authors.lastname: Zhu
authors.forename: Jie
authors.initials: J
authors.lastname: Li
authors.forename: Tong
authors.initials: T
authors.lastname: Ru
authors.forename: Ruifang
authors.initials: R
authors.lastname: Zhu
authors.forename: Chenyan
authors.initials: C
authors.lastname: Dai
authors.forename: Wanjun
authors.initials: W
authors.lastname: Wang
authors.forename: Yali
authors.initials: Y
authors.lastname: Hu
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D046228:Microarray Analysis; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis / Q000196:embryology / Q000235:genetics*; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal
chemical_list: D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human