title: Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.
abstract: OBJECTIVE
  The objective of this study is to report the prenatal ultrasound scan findings in four fetuses from two families postnatally diagnosed with 17q12 microdeletion syndrome on microarray CGH and review the literature.
  
  
  METHODS
  We report two families presenting with prenatally detected hyperechogenic kidneys. In family 1, the mother had three pregnancies complicated by anhydramnios with bilateral hyperechogenic kidneys, hyperechogenic enlarged cystic kidneys, and bilateral hyperechogenic kidneys with polyhydramnios respectively. In family 2, prenatal ultrasound scans detected hyperechogenic kidneys. A pubmed search for all reported cases of 17q12 deletion between 2005 and 2015 was performed. All publications were reviewed, and findings summarised.
  
  
  RESULTS
  Fourteen publications were deemed suitable for literature review; there was a diagnosis of 17q12 deletion with documented prenatal findings in 25 cases. Prenatal renal anomalies were reported in 88% of these cases. Anomalies were documented from 15 weeks, and most common presentation was hyperechogenic, muticystic, or enlarged kidneys. Both oligohydramnios and polyhydramnios were seen. Postnatal renal ultrasound scan findings were of muticystic or multicystic dysplastic kidney. There did not appear to be correlation of prenatal presentation and severity of renal disease.
  
  
  CONCLUSIONS
  Prenatal testing should be offered to all cases of hyperechogenic kidneys, with unknown cause.
authors.affiliation: Clinical Genetics Department, University Hospitals Leicester NHS Trust, Leicester, UK.
authors.forename: Gabriela E
authors.initials: GE
authors.lastname: Jones
authors.affiliation: Department of Fetal and Maternal Medicine, University Hospitals Leicester NHS Trust, Leicester, UK.
authors.forename: Hatem A
authors.initials: HA
authors.lastname: Mousa
authors.affiliation: Leicester Medical School, University of Leicester, Leicester, UK.
authors.forename: Helen
authors.initials: H
authors.lastname: Rowley
authors.affiliation: Department of Paediatric Nephrology, University Hospitals Leicester NHS Trust, Leicester, UK.
authors.forename: Peter
authors.initials: P
authors.lastname: Houtman
authors.affiliation: Clinical Genetics Department, University Hospitals Leicester NHS Trust, Leicester, UK.
authors.forename: Pradeep C
authors.initials: PC
authors.lastname: Vasudevan
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000000981:diagnostic imaging*; D007668:Kidney / Q000000981:diagnostic imaging*; D008297:Male; D016216:Ultrasonography, Prenatal