Chih-Ping Chen1, Shuenn-Dyh Chang2, Tzu-Hao Wang3, Liang-Kai Wang4, Jeng-Daw Tsai5, Yu-Peng Liu6, Schu-Rern Chern7, Peih-Shan Wu8, Jun-Wei Su9, Yu-Ting Chen7, Wayseen Wang10. 1. Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com. 2. Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Tao-Yuan, Taiwan; Department of Obstetrics and Gynecology, College of Medicine, Chang Gung University, Tao-Yuan, Taiwan. 3. Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Tao-Yuan, Taiwan; Department of Obstetrics and Gynecology, College of Medicine, Chang Gung University, Tao-Yuan, Taiwan; Genomic Medicine Research Core Laboratory (GMRCL), Chang Gung Memorial Hospital, Lin-Kou Medical Center, Tao-Yuan, Taiwan. 4. Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. 5. Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan. 6. Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan; Department of Radiology, Mackay Memorial Hospital Hsinchu Branch, Hsinchu, Taiwan. 7. Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan. 8. Gene Biodesign Co. Ltd, Taipei, Taiwan. 9. Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan. 10. Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
Abstract
OBJECTIVE: This study was aimed at detection of recurrent transmission of the 17q12 microdeletion in a fetus with congenital anomalies of the kidney and urinary tract. MATERIALS AND METHODS: A 35-year-old woman was referred to the hospital at 20 weeks' gestation because of hydronephrosis in the fetus. The mother was normal and healthy. Her second child was a girl who had bilateral dysplastic kidneys that required hemodialysis, and died at the age of 5 years. During this pregnancy, the woman underwent amniocentesis at 18 weeks' gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. Prenatal ultrasound showed left hydronephrosis with a tortuous ureter, right hydronephrosis, and increased echogenicity of the kidneys. Fetal magnetic resonance imaging showed right dilated renal calyces, left hydronephrosis, hydroureter, and multicystic kidney. The pregnancy was subsequently terminated. Array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization were applied for genetic analysis using umbilical cord, maternal blood, and cultured amniocytes. RESULTS: aCGH analysis on umbilical cord detected a 1.75-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. aCGH analysis on maternal blood detected a 1.54-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. Metaphase fluorescence in situ hybridization analysis on cultured amniocytes and maternal blood lymphocytes using 17q12-specific bacterial artificial chromosome probe showed 17q12 microdeletion in the fetus and the mother. CONCLUSION: Prenatal diagnosis of recurrent renal and urinary tract abnormalities in the fetus should include a differential diagnosis of familial 17q12 microdeletion.
OBJECTIVE: This study was aimed at detection of recurrent transmission of the 17q12 microdeletion in a fetus with congenital anomalies of the kidney and urinary tract. MATERIALS AND METHODS: A 35-year-old woman was referred to the hospital at 20 weeks' gestation because of hydronephrosis in the fetus. The mother was normal and healthy. Her second child was a girl who had bilateral dysplastic kidneys that required hemodialysis, and died at the age of 5 years. During this pregnancy, the woman underwent amniocentesis at 18 weeks' gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. Prenatal ultrasound showed left hydronephrosis with a tortuous ureter, right hydronephrosis, and increased echogenicity of the kidneys. Fetal magnetic resonance imaging showed right dilated renal calyces, left hydronephrosis, hydroureter, and multicystic kidney. The pregnancy was subsequently terminated. Array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization were applied for genetic analysis using umbilical cord, maternal blood, and cultured amniocytes. RESULTS: aCGH analysis on umbilical cord detected a 1.75-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. aCGH analysis on maternal blood detected a 1.54-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. Metaphase fluorescence in situ hybridization analysis on cultured amniocytes and maternal blood lymphocytes using 17q12-specific bacterial artificial chromosome probe showed 17q12 microdeletion in the fetus and the mother. CONCLUSION: Prenatal diagnosis of recurrent renal and urinary tract abnormalities in the fetus should include a differential diagnosis of familial 17q12 microdeletion.
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