Yinon Gilboa1, Sharon Perlman1, Naomi Pode-Shakked1,2,3,4, Ben Pode-Shakked1,4,5, Alon Shrim6,7, Einat Azaria-Lahav1,8, Benjamin Dekel1,2,8, Hagith Yonath1,5, Michal Berkenstadt1,5, Reuven Achiron1. 1. 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. 2. Pediatric Stem Cell Research Institute, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel. 3. Department of Pediatrics, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel. 4. The Dr. Pinchas Borenstein Talpiot Medical Leadership Program, Sheba Medical Center, Tel HaShomer, Israel. 5. The Danek Gertner Institute of Human Genetics and Internal Medicine, Sheba Medical Center, Tel HaShomer, Israel. 6. Department of Obstetrics and Gynecology, Hillel Yaffe Medical Center, Hadera, Israel. 7. Technion Israel Institute of Technology, Haifa, Israel. 8. Division of Pediatric Nephrology, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel.
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.
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.
Authors: A Țuțulan-Cuniță; A G Pavel; L Dimos; M Nedelea; A Ursuleanu; A T Neacșu; M Budișteanu; D Stambouli Journal: Balkan J Med Genet Date: 2022-06-05 Impact factor: 0.810