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9/27/2019 ©Allinahealthsystems 1 9/27/2019 Heidi L Thorson, MD Minnesota Perinatal Physicians Maternal-Fetal Medicine Clinical Genetics September 27, 2019 Introduction Structural anomalies affect 2-3% births Limitations of ultrasound Fetal genitourinary complications are relatively Normal fetal anatomy common Common disorders Uncommon disorders Vary from transient, minor or unilateral to Fetal intervention uniformly lethal Summary Can have life-long implications Fetal development is a dynamic process Highly user-dependent Limited access to high quality ultrasound Introduction Gestational age-dependent Limitations of ultrasound Limited visibility in advanced gestation Normal fetal anatomy Negative findings often used to define anatomy Common disorders Uncommon disorders Fetal intervention Summary ©AllinaHealthSystems 1 9/27/2019 Evaluation of the GU tract Up to 50% of fetal anomalies are related to the GU system with ultrasound ◦ Longitudinal: bilateral elliptic Sonography is a reliable tool to evaluate normal and abnormal structures urinary tract anatomy ◦ Transverse: circular, adjacent to the lumbar spine ◦ Fluid-filled system Ureter is not identified AIUM/ACR guidelines: Bladder visible by 13 weeks’ ◦ All 2nd and 3rd trimester sonograms must include images of kidney & GA bladder Kidneys grow throughout gestation ◦ Constant renal:abdominal circumference ratio ◦ Maintain uniform contour Female Male ©AllinaHealthSystems 2 9/27/2019 ©AllinaHealthSystems 3 9/27/2019 Oligohydramnios Oligohydramnios Abnormal anatomy Club foot Ascites Thick walled bladder ©AllinaHealthSystems 4 9/27/2019 Hyperechoic, cystic kidneys 10.3 weeks 3-vessel cord Keyhole bladder ©AllinaHealthSystems 5 9/27/2019 18 week scan 10 days later Pyelectasis Ureterpelvic junction (UPJ) obstruction Introduction Ureteral duplication Limitations of ultrasound Ureterovesical junction(UVJ) obstruction Normal fetal anatomy Reflux Common disorders Uncommon disorders Fetal intervention Summary Most common renal anomaly Minimal dilation of the renal pelves Weakly associated with Down syndrome ♂ > ♀ fetuses Source of parental (and physician) anxiety ©AllinaHealthSystems 6 9/27/2019 Sonographic characteristics: Prognosis: ◦ Blunted, rounded or “bullet nosed” ◦Depends on GA at onset, renal pelvis severity & bilaterality ◦ Dilation of pelvis & infundibulum ◦Overall excellent prognosis ◦ Normal ureter, bladder and ◦2nd trimester UPJ obstruction posterior urethra can lead to renal dysplasia & ◦ 25% polyhydramnios decreased function Severe UPJ obstruction can rupture ◦Antenatal progression = ◦ Perinephric urinoma predictive of need for ◦ Urinary ascites postnatal surgery Followed with serial ultrasound Most recent ultrasound: 28w1d: Mild R hydronephrosis to level of UPJ, significant Improved hydronephrosis cortical thinning, no increased echogenicity or cortical cysts Plan: ◦No indication for delivery before 39 weeks ©AllinaHealthSystems 7 9/27/2019 Obstruction of posterior urethra Sonographic characteristics: ◦Most common cause of obstruction in male fetuses ◦“Keyhole” sign – markedly ◦Incidence 1:5000-1:25,000 births dilated bladder with dilated ◦12% associated aneuploidy posterior urethra Prognosis ◦Thickened, trabeculated ◦80-100% mortality if a/w oligohydramnios (with resultant bladder wall (>2 mm) Potter sequence) ◦Oligohydramnios Fetal therapy ◦Subcortical cysts ◦Vesicoamniotic shunt Weekly surveillance US ◦Fetoscopic ablation of valves, stenting Consensus meeting 2014 ◦ Goal: Uniform terminology and standardized mgmt Multicystic dysplastic kidney ◦ UTD A1 – low risk for postnatal uropathy Polycystic kidney disease Antenatal monitoring ◦ UTD A1 – repeat US at 32 weeks ◦Autosomal recessive ◦ UTD A2-3 – repeat US every 4-6 weeks ◦Autosomal dominant *may require more frequent if severe pathology identified Multiple cysts of varying size Noncommunicating ©AllinaHealthSystems 8 9/27/2019 R Rt Ultrasound 26w1d L Lt RL Ultrasound at 29 weeks Atretic ureter + non-communicating cysts Sonographic characteristics ◦ Incidence 1:1000 to 1:4300 live births ◦ Cystic paraspinal flank mass ◦ ♂ > ♀ fetuses (2:1) ◦ No normal renal parenchyma ◦ Typically unilateral ◦ Loss of uniform contour ◦ Non-communicating cysts Sonographic findings: ◦ Oligohydramnios if bilateral ◦ Cystic paraspinal mass ◦ No normal renal parenchyma Potter Sequence ◦ Loss of reniform contour Severe oligohydramnios Associated anomalies Amnion nodosum ◦ Esophageal atresia Flattened face ◦ Cardiac anomalies Prognosis: Uniformly good if isolated Low set floppy ears ◦ Clubbed feet ◦ NTDs 30% lethal fetal renal disease Redundant skin ◦ 66% bilateral MCDK, 33% renal agenesis Pulmonary hypoplasia Imperforate anus Perinatal death ◦ Lethality suggested by: oligohydramnios, absent bladder ◦ VATER ◦ Leads to Potter sequence Large kidneys Microscopic cysts Introduction Oligohydramnios Limitations of ultrasound Lethal Normal fetal anatomy Common disorders Genetic etiology Uncommon disorders Fetal intervention Summary ©AllinaHealthSystems 9 9/27/2019 Ambiguous genitalia Bladder outlet obstruction Prune belly syndrome Bladder/cloacal exstrophy Other complex urogenital anomalies Incomplete masculinization male genitalia: Masculinization female genitalia ◦ Absent, short or abnormal shape of phallus ◦ Enlarged phallic structure ◦ Absent or bifid scrotum ◦ Abnormal/fused labia with identified uterus ◦ Absent/undescended testes later 3rd trimester or relatively large rectovesical distance ◦ Discordance between external genitalia and internal organs Maternal conditions ◦ CAH (maternal/fetal) Androgen insensitivity ◦ Adrenal/ovarian tumors 5 alpha reductase deficiency ◦ Exogenous progestins/androgens Defects of testosterone synthesis Maternal and fetal condition Leydig cell hypoplasia ◦ Aromatase deficiency Persistent mullerian duct syndrome ©AllinaHealthSystems 10 9/27/2019 hemi- bladders omphalocele everted cecum bifid external prolapsed ileum genitalia “elephant trunk” Prenatal diagnosis of urogenital conditions is relatively 43 yo Vietnamese G1 P0 common Transfer of care at 29 weeks Severity ranges from mild to lethal Progressive oligohydramnios and enlarging bladder since Few are amenable to intrauterine intervention 20 weeks Diagnostic confidence and technical abilities continue to Reported posterior urethral valves, s/p vesicocentesis #1 improve for normal results at 24w Many benefit from multidisciplinary, collaborative Normal male karyotype and anatomy approach Hepatitis B carrier ©AllinaHealthSystems 11 9/27/2019 On presentation, ultrasound finds: ◦Fibroid uterus, oligihydramnios ◦Right pyelocaelectasis and echogenic parenchyma ◦Left pelvic kidney with normal parenchyma ◦Thicken bladder wall with “keyhole” Management options reviewed Second bladder tap performed for “good prognosis” findings. Third tap withheld d/t hepatitis B status Amnioinfusion/vesicoamniotic shunt placed without incident ©AllinaHealthSystems 12 9/27/2019 Follow-up study 3 days later: ◦ Normal amniotic fluid ◦ Collapsed bladder ◦ Decompressed right kidney ◦ And....... Preterm premature rupture of membranes at 33 weeks gestation Cesarean delivery for obstructing fibroid Immediate respiratory insufficiency, resolved Chronic renal insufficiency Other anomalies suggestive of VACTERL ©AllinaHealthSystems 13.
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