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Genetics in Congenital Disorders of the Urinary Tract
- 1. Genetics in Congenital Disorders of the Urinary Tract 26th International Congress of Pediatrics, Tehran, Iran M. Rafati MD PhD Assistant Professor of Medical Genetics Avicenna Research Institute 1 10/18/2014
- 2. High Incidence Rate Represent 35% to 45% of all congenital abnormalities 2 10/18/2014 Rafati M
- 3. Congenital Urinary Tract Anomalies (UTA) Include anomalies of: Kidneys Ureters Bladder Urethra Classification: Errors of organogenesis Errors of migration and position Obstruction 3 10/18/2014 Rafati M
- 5. Prenatal Hydronephrosis Hydronephrosis is the most common abnormality detected on prenatal ultrasonography. In the United States, 3 million maternal ultrasounds are performed annually with hydronephrosis being the most commonly detected anomaly (as many as 42,000 fetuses, 1.4%) It accounts for about 50% of all prenatally detected defects. up to one half of these neonates do not have hydronephrosis on the postnatal ultrasound. 5 10/18/2014 Rafati M
- 6. Prenatal Hydronephrosis Etiology: Physiologic or benign dilation Ureteropelvic junction (UPJ) obstruction (64%) The remaining 36% are secondary to: Vesicoureteral reflux Megaureter Posterior urethral valves 6 10/18/2014 Rafati M
- 7. Contribution of Genetics Isolated or Associated with Other Anomalies? Unilateral or Bilateral?Severity? 7 10/18/2014 Rafati M
- 8. Association with other anomalies UTA are frequently associated (72%) with other structural anomalies Structural anomalies of most organ systems have an increased risk for association with UTA % with renal anomaliesStructural anomaly 42Absent gallbladder 25Anencephaly 80Caudal dysplasia 10Heart defects 20Anorectal malformations 4Gastroschisis 100Sirenomelia VATER association 8 10/18/2014 Rafati M
- 9. Genetics in hydronephrosis Multifactorial disorder Low recurrence risk Chromosome abnormalities Risk of fetal chromosome abnormality Isolated hydronephrosis: 3 times Hydronephrosis associated with other anomalies: 30 times risk Autosomal dominant inheritance Few reported families 9 10/18/2014 Rafati M
- 10. Chromosomal Aneuploidies among Fetuses with Hydronephrosis BilateralUnilateralRenal Anomaly Other Anomalies IsolatedOther Anomalies Isolated 32% (30/95)3% (5/163)25% (2/8)0% (0/10)Mild Hydronephrosis 26% (10/38)6% (5/81)--Moderate Hydronephrosis --44% (7/11)1% (1/76)Severe Hydronephrosis 10 10/18/2014 Rafati M
- 11. Importance of Diagnosis Pathology and genetic investigation of products of conception Diagnosis Genetic Investigation Prevention in Future Pregnancies 11 10/18/2014 Rafati M
- 12. Diagnostic approach Chromosome study Karyotype Array-based techniques Monogenic disorders Targeted molecular genetic study Genomic studies (next-generation sequencing technique) 12 10/18/2014 Rafati M
- 13. Chromosome study Normal karyotype does not rule out chromosome abnormalities Array-based techniques Different resolution CGH array Oligoarray SNP array 13 10/18/2014 Rafati M
- 14. Next generation sequencing techniques High throughput Molecular investigation of a wide range of genetic disorders in a single experiment Whole exome sequencing 14 10/18/2014 Rafati M
- 15. Thanks for Your Attention 10/18/201415 Rafati M