title: Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism.
abstract: OBJECTIVE
  The linkage between 17q12 microdeletions, renal anomalies, and higher risk for neurodevelopmental disorders is well described in the literature. The current study presents prenatal diagnosis of normal-sized fetal hyperechogenic kidneys leading to the diagnosis of 17q12 deletion syndrome and autism spectrum disorder.
  
  
  METHODS
  Over a period of 9 years in a single referral center, seven fetuses were diagnosed with hyperechogenic renal parenchyma and were followed up prospectively. Amniocentesis for molecular diagnosis was performed in all cases, and subsequently, five fetuses were found to harbor a 17q12 deletion by chromosomal microarray analysis. Postnatal evaluation was carried out by a developmental neurologist.
  
  
  RESULTS
  Five of the seven fetuses had molecular diagnosis of 17q12 deletion. One patient elected termination of pregnancy. On long-term follow-up, all of the four children showed symptoms consistent with neurodevelopmental disorders. The two fetuses with no deletion have a normal follow-up with regression of the renal hyperechogenicity.
  
  
  CONCLUSIONS
  We report a strikingly high correlation between prenatal hyperechogenic kidneys, 17q12 microdeletion, and autism spectrum disorder with the advantage of optimal prenatal counseling as well as early diagnosis and intervention. © 2016 John Wiley & Sons, Ltd.
authors.affiliation: Prenatal Diagnostic Unit, Department of Obstetrics and Gynecology, Sheba Medical Center, Tel HaShomer, Israel, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Yinon
authors.initials: Y
authors.lastname: Gilboa
authors.affiliation: Prenatal Diagnostic Unit, Department of Obstetrics and Gynecology, Sheba Medical Center, Tel HaShomer, Israel, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Sharon
authors.initials: S
authors.lastname: Perlman
authors.affiliation: Prenatal Diagnostic Unit, Department of Obstetrics and Gynecology, Sheba Medical Center, Tel HaShomer, Israel, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.|Pediatric Stem Cell Research Institute, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel.|Department of Pediatrics, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel.|The Dr. Pinchas Borenstein Talpiot Medical Leadership Program, Sheba Medical Center, Tel HaShomer, Israel.
authors.forename: Naomi
authors.initials: N
authors.lastname: Pode-Shakked
authors.affiliation: Prenatal Diagnostic Unit, Department of Obstetrics and Gynecology, Sheba Medical Center, Tel HaShomer, Israel, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.|The Dr. Pinchas Borenstein Talpiot Medical Leadership Program, Sheba Medical Center, Tel HaShomer, Israel.|The Danek Gertner Institute of Human Genetics and Internal Medicine, Sheba Medical Center, Tel HaShomer, Israel.
authors.forename: Ben
authors.initials: B
authors.lastname: Pode-Shakked
authors.affiliation: Department of Obstetrics and Gynecology, Hillel Yaffe Medical Center, Hadera, Israel.|Technion Israel Institute of Technology, Haifa, Israel.
authors.forename: Alon
authors.initials: A
authors.lastname: Shrim
authors.affiliation: Prenatal Diagnostic Unit, Department of Obstetrics and Gynecology, Sheba Medical Center, Tel HaShomer, Israel, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.|Division of Pediatric Nephrology, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel.
authors.forename: Einat
authors.initials: E
authors.lastname: Azaria-Lahav
authors.affiliation: Prenatal Diagnostic Unit, Department of Obstetrics and Gynecology, Sheba Medical Center, Tel HaShomer, Israel, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.|Pediatric Stem Cell Research Institute, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel.|Division of Pediatric Nephrology, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Dekel
authors.affiliation: Prenatal Diagnostic Unit, Department of Obstetrics and Gynecology, Sheba Medical Center, Tel HaShomer, Israel, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.|The Danek Gertner Institute of Human Genetics and Internal Medicine, Sheba Medical Center, Tel HaShomer, Israel.
authors.forename: Hagith
authors.initials: H
authors.lastname: Yonath
authors.affiliation: Prenatal Diagnostic Unit, Department of Obstetrics and Gynecology, Sheba Medical Center, Tel HaShomer, Israel, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.|The Danek Gertner Institute of Human Genetics and Internal Medicine, Sheba Medical Center, Tel HaShomer, Israel.
authors.forename: Michal
authors.initials: M
authors.lastname: Berkenstadt
authors.affiliation: Prenatal Diagnostic Unit, Department of Obstetrics and Gynecology, Sheba Medical Center, Tel HaShomer, Israel, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Reuven
authors.initials: R
authors.lastname: Achiron
mesh_terms: D000067877:Autism Spectrum Disorder / Q000235:genetics*; D025063:Chromosome Disorders / Q000175:diagnosis*; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D007668:Kidney / Q000000981:diagnostic imaging*; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis