O.13.1 Abnormal Fetal GU Tract 1 of 2 - PowerPoint.pdf

ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 1 2 Fetal Urogenital Tract textbook reference Module O.13 Abnormal Fetal Genitourinary Tract • • Curry 5th Edition Chapter 22 (p. 406‐409) Abnormal GU Tract – Part 1 • • 3 Rumack...

ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 1 2 Fetal Urogenital Tract textbook reference Module O.13 Abnormal Fetal Genitourinary Tract • • Curry 5th Edition Chapter 22 (p. 406‐409) Abnormal GU Tract – Part 1 • • 3 Rumack 5th Edition Chapter 39 4 Abnormal GU Tract – Part 1 Abnormal GU Tract – Part 2 • Basic assessment • Ureters • Kidneys • Bladder • Obstruction and rupture • Genital tract 5 6 Fetal GU Tract Basic Assessment of Fetal GU Tract Basic assessment • Guidelines for assessment of fetal GU tract abnormalities 1 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 7 8 Basic assessment – kidneys Basic assessment – collecting system • Presence • Dilatation • Number • Level of obstruction • Position • Cause of obstruction • Sonographic appearance • Unilateral or bilateral abnormality • Unilateral or bilateral abnormality 9 10 Basic assessment – bladder • Presence • Appearance • Size 11 Basic assessment – external genitalia • Sex 12 Basic assessment – AFV • Normal volume? • AFV (single deepest pocket): 2‐8 cm • AFI (four quadrant index): 10‐20 cm Kidneys 2 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 13 14 Kidneys • Abnormal location • Simple renal cysts • Renal agenesis • Renal cystic disease • Horseshoe kidney • VACTERL • Renal pyelectasis • Fetal renal neoplasm • UPJ obstruction 15 Abnormal Location of Kidneys 16 Ectopic kidneys • Pelvic Most common 17 Renal Agenesis 18 Renal Agenesis • Unilateral • Bilateral Unilateral Renal Agenesis 3 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 19 20 Unilateral Renal Agenesis GU Tract Development Definition One kidney fails to develop 5 weeks GA (diagram) • Caused by the failure of one ureteric bud to develop and/or interact with the metanephrogenic blastema AKA metanephric mesoderm • Ipsilateral ureter may be absent • More common than bilateral renal agenesis • US diagnosis in fetus may be difficult Uncommon • Ureteric bud • Metanephrogenic mesoderm (kidney) mesonephric duct metanephrogenic blastema Kidney only develops if ureteric bud interacts with metanephrogenic blastema ureteric bud Textbook of Diagnostic Sonography, 7th Edition (Hagen‐Ansert fig 63‐2) 21 22 Unilateral renal agenesis – sonographic features • Nonvisualization of kidney • Normal bladder • Normal AFV • May be slightly increased (paradoxically) • Absent renal artery on affected side Paradox • Check with colour Doppler Seemingly self‐ contradictory or • “Lying down adrenal” sign illogical 23 Unilateral renal agenesis – pitfalls for misdiagnosis • Affected side inadequately visualized • e.g. shadowing from fetal spine • Ectopic kidney • e.g. pelvic, crossed‐fused • Hypertrophied adrenal gland or bowel mistaken for kidney 24 rt kidney normal Posterior axial unilateral renal agenesis Coronal 31 week GA fetus • Empty renal fossa on left – unilateral renal agenesis Textbook of Diagnostic Sonography, 7th Edition (Hagen‐Ansert fig 63‐13) Power Doppler 4 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 25 26 Renal Agenesis Bilateral Renal Agenesis Normal adrenal “lying down adrenal sign” (renal agenesis) 27 28 Bilateral Renal Agenesis AKA Potter syndrome Definition Both kidneys fail to develop • • Bilateral renal agenesis – sonographic features Very uncommon Caused by the failure of both ureteric buds to develop and/or interact with the metanephrogenic blastema • Ureters may also be absent Nonvisualization of kidneys and bladder • “Lying down adrenal” sign • Severe oligohydramnios • Potter facies Facies Distinctive facial appearance associated with specific medical conditions Lethal abnormality due to severe pulmonary hypoplasia 29 • 30 bilateral renal agenesis Bilateral renal agenesis – sonographic assessment • Absent renal arteries with colour Doppler of fetal aorta • EVS sonography • Intra‐amniotic or intraperitoneal infusion of saline • Not commonly done Bilateral renal agenesis – associated findings • Potter facies • Mild hypertelorism, flattening of nose, low‐set ears, receding chin • Dolichocephaly • Abnormal cephalic index • Limb contractures • e.g. clubfoot Power Doppler 5 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 31 32 Potter facies • Mild hypertelorism • Flattened nose • Low set ears • Receding chin 33 Horseshoe Kidney 34 Horseshoe Kidney Horseshoe kidney – sonographic features • • Lower pole of kidneys continuous Normal bladder and AFV May be undetected by fetal sonography horseshoe Definition Kidneys joined together at the lower poles 35 36 Horseshoe kidney Horseshoe kidney • 3rd trimester • Coronal abdomen • Lateral axial mid‐ abdomen • 12 MHz linear array transducer • Kidneys fuse on midline Ultrasonography in Obstetrics & Gynecology, 5th Edition (Callen fig 16‐11) 6 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 37 38 Lateral axial Horseshoe kidney colour Doppler 39 CT scan of an adult 40 Renal Pyelectasis Definition Dilatation of the renal pelvis Renal Pyelectasis • • • 41 More common in males • Normal and abnormal cases Mild pyelectasis is common • No significant long term sequelae Slight association with trisomy 21 and postnatal renal pathology 42 Renal pyelectasis • Unilateral or bilateral • If renal pyelectasis is seen, the remainder of the GU tract will vary in appearance depending on cause: • Ureters ‐ normal (not seen) or dilated • Bladder ‐ normal, absent, or enlarged • AFV ‐ normal, oligohydramnios, or polyhydramnios Renal pyelectasis • Lateral axial fetal abdomen • Dilatation of both renal pelves (arrows) 7 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 43 44 Abnormal renal pyelectasis – causes Renal pyelectasis – a note on terminology • Ureteropelvic junction (UPJ) obstruction • Ureterovesicular junction (UVJ) obstruction • Hydronephrosis is often defined as “dilatation of the collecting system due to obstruction” • Vesicoureteral reflux (VUR) • In OBGYN literature definitions vary • Posterior urethral valves • • Increased maternal hydration For the purposes of the OBGYN course we define terms according to the next slide Most common 45 46 Terminology Pyelectasis Hydronephrosis Renal pyelectasis – other terms Dilatation of renal pelvis Dilatation of renal pelvis and calyces • If dilatation of only the renal pelvis is seen (without dilatation of the calyces) call it pyelectasis • If calyceal dilatation is seen call it hydronephrosis • Even if we can’t confirm obstruction is the cause 47 • Pelviectasis – dilated renal pelvis • Pelvicaliectasis – dilated renal pelvis & calyces 48 Renal Pyelectasis Informal terminology you may hear in an US department • Dilatation of the renal pelvis often referred to as “hydro” • Often used with or without calyceal involvement Is pyelectasis always abnormal? No . . . • Dilatation in the “normal” range has no significant long term sequelae • AP diameter measures below abnormal • Common • Often called “mild pyelecatasis” • Abnormal dilatation is determined by the AP diameter of the renal pelvis • Renal pelvis diameter (RPD) 8 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 49 50 Renal Pelvis Diameter Posterior RPD measurement Renal Pelvis Diameter (RPD) • AP diameter • Posterior axial is ideal view KIDNEY Pyelectasis Anterior Posterior axial 51 52 Renal pelvis diameter – interpretation • The more severe the dilatation the greater the risk of an abnormal outcome (e.g. trisomy 21) • Renal pelvis diameter – management We will use the following numbers for abnormal: GA RPD Interpretation < 20 weeks > 4 mm Abnormal ≥ 20 weeks > 5 mm Abnormal > 10 mm Severe pyelectasis clinical sites may vary GA RPD Management < 20 weeks > 4 mm Follow up with US 5 – 10 mm Neonatal US > 10 mm 3rd trimester US ≥ 20 weeks e.g. SBGH: < 32 weeks > 5mm ≥ 32 weeks > 7 mm 53 54 Renal pelvis diameter – neonatal follow‐up ultrasound • Booked 5‐7 days post birth • Fetal progesterone levels decrease • Muscular walls in ureters relax, kidneys empty • Any postnatal dehydration should be resolved Interpretation of RPD – variability in the literature • The Canadian Journal of Medical Sonography (vol 6, iss 3) • Normal AP renal pelvis < 5 mm Weeks gestation Abnormal values Mild > 20 weeks Mild: 5‐6 mm (will most likely resolve at 3rd trimester) Moderate 2nd Moderate: 7‐10 mm or if with calyceal dilatation PD:KD ratio < 0.5 Severe 2nd, trimester 3rd trimester PD ≥ 10 mm PD:KD ratio > 0.5 9 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 55 56 “Abnormal” renal pyelectasis – variability in the literature • Sonography Canada generalist textbooks: Textbook* Rumack Hagen‐Ansert Raatz Stephenson Abnormal RPD ≥ 4 mm ≥ 7 mm ≥ 4‐4.5 mm ≥ 7 mm > 5 mm > 8 mm “Abnormal” renal pyelectasis – summary: GA 16‐27 weeks ≥ 28 < 3rd trimester 3rd trimester < 20 weeks 20‐40 weeks Trimester 2nd 3rd Abnormal > 4‐5 mm > 7‐10 mm *Textbooks on Sonography Canada Reading List for Generalist Content 57 58 Renal pyelectasis – sonographic features Renal Pyelectasis Sonographic Features 59 • Dilated renal pelvis • Anechoic • Smooth renal contour • Pulsed Doppler does not significantly change • If you see dilated calyces (communicating cysts) call it hydronephrosis 60 Renal pyelectasis • 19 weeks GA • AP diameters measure 4.5 mm and 5.1 mm • Abnormal pyelectasis Renal pyelectasis • Bilateral, severe pyelectasis (> 30 mm) Textbook of Diagnostic Sonography, 8th Edition (Hagen‐Ansert fig 64‐27) 10 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 61 62 Hydronephrosis • Long kidney • Dilated renal pelvis and calyces visible • Renal cortex and pyramids visible Hydronephrosis • Dilated renal pelvis, calyces and proximal ureter • Renal cortex well seen Diagnostic Medical Sonography: Obstetrics & Gynecology, 3rd Ed. (Raatz Stephenson fig 21‐31) 63 Textbook of Diagnostic Sonography, 8th Edition (Hagen‐Ansert fig 64‐11) 64 UPJ Obstruction Definition Obstruction of flow of urine from renal pelvis to proximal ureter with dilatation of renal pelvis/calyces UPJ Obstruction 65 • Unilateral or bilateral • Majority are unilateral • Most common site of fetal urinary tract obstruction • True for children as well 66 Unilateral UPJ Obstruction UPJ Obstruction Unilateral • Usually develops prenatally • Encountered less frequently in adults • Result of kidney stones, previous surgery, or inflammation 11 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 67 68 Unilateral UPJ obstruction – sonographic features • Unilateral renal pyelectasis / hydronephrosis • ± Caliectasis (communicating cysts) • Normal kidney contour • Normal AFV or mild polyhydramnios • Normal ureter (not seen) and bladder Unilateral UPJ obstruction 69 Normal 70 Right UPJ obstruction • 35 weeks LNMP • Coronal right kidney • Hydronephrosis • Renal cortex well seen Unilateral UPJ obstruction • Anterior axial fetal abdomen • Dilated renal pelvis in right kidney (arrow) • Ureter was not seen s: stomach • Normal bladder and AFV Continued on next slide 71 s 72 UPJ obstruction with hydronephrosis • Coronal kidneys • Dilated renal pelvis and calyces in right kidney • Renal cortex well seen • Left kidney normal UPJ Obstruction Bilateral 12 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 73 74 Bilateral UPJ obstruction – sonographic features • Bilateral UPJ obstruction Bilateral renal pyelectasis / hydronephrosis • ± Caliectasis (communicating cysts) • Normal kidney contour • Nonvisualization of bladder (if complete obstruction) • Oligohydramnios (mild to moderate) 75 • Coronal fetal abdomen • Bilateral hydronephrosis 76 Simple Renal Cysts Simple Renal Cysts • Nondysplastic, nonhereditary cysts • Seen as early as 14 weeks GA • Usually resolve by 24 weeks GA • May progress into renal cystic disease Dysplasia Abnormal growth or development; Presence of abnormal cells 77 78 Simple renal cysts – sonographic features Renal cysts vs. hydronephrosis • Usually a small, solitary, unilocular cyst • Renal cysts are noncommunicating • Near periphery of the kidney • Hydronephrosis may initially present as a kidney with multiple cysts • However, these “cysts” communicate with the renal pelvis – scan carefully! 13 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 79 80 Simple renal cyst • 19.5 mm simple left renal cyst • RK normal with visible pyelectasis • AFV normal 31 weeks GA Renal Cystic Disease posterior axial coronal 81 82 Renal Cystic Disease AKA Potter sequence (older classification method) • Renal cystic disease – classifications Broad categories of conditions involving renal cysts • Multicystic dysplastic kidney (MCDK) Potter Type II • Obstructive cystic renal dysplasia (CRD) Potter Type IV • Polycystic kidney disease (PKD) Potter Types I & III Potter syndrome Bilateral renal agenesis Potter sequence Categories of renal cystic disease 83 84 Multicystic Dysplastic Kidney AKA Potter type II Multicystic Dysplastic Kidney (MCDK) Definition Malformed kidney with multiple cysts and little, if any normal parenchyma • • • Caused by very early onset renal obstruction Collecting system appears absent due to lack of functioning parenchyma May resemble a bunch of grapes 14 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 85 86 MCDK • Unilateral or bilateral • Bilateral incompatible with life (no collecting system) • Often unilateral with an abnormal contralateral kidney • e.g. UPJ or agenesis • Associated anomalies: • Chromosome anomalies (trisomy 18) • Other anomalies (cardiac) Multiscystic dysplastic kidney (MCDK) dissection sonogram 87 88 MCDK – sonographic features • Multiple cysts with no renal parenchyma or pelvis seen • Noncommunicating cysts • Contour distorted by cysts • Kidney size normal or enlarged • Normal ureter and bladder (if unilateral) • Normal AFV (if unilateral) • Oligohydramnios with contralateral renal dysfunction 89 MCDK Normal amniotic fluid Textbook of Diagnostic Sonography, 7th Edition (Hagen‐Ansert fig 63‐19) 90 MCDK – differential diagnosis • Hydronephrosis (pelvicaliectasis) MCDK • 30 weeks GA • Noncommunicating cysts • Stroma is visible (framework of kidney) • No renal cortex or medulla visible Ultrasonography in Obstetrics & Gynecology, 5th Edition (Callen fig 4‐28) 15 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 91 92 MCDK • Oblique sagittal right abdomen • Large, multicystic mass in renal fossa MCDK 93 UPJ Obstruction vs. MCDK UPJO MCDK Renal parenchyma Usually visible Not seen Round, Cyst characteristics Oval, irregular, noncommunicating communicating (hydronephrosis) Ureteral dilatation No No Contralateral kidney 10‐40% UPJO 40% abnormal: 20% MCDK 10% agenesis 10% UPJO 95 Normal kidney 94 cysts calyces UPJ obstruction MCDK 96 Obstructive Cystic Renal Dysplasia AKA Potter type IV Obstructive Cystic Renal Dysplasia Definition Decreased kidney function as a consequence of renal obstruction • Cortex may thin and cysts may form • Most often occurs with urethral obstruction 16 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 97 98 Renal parenchymal responses to obstruction Obstructive cystic renal dysplasia – sonographic features • Renal pyelectasis / hydronephrosis • Cortical thinning • ± Hyperechoic parenchyma • Increased echogenicity • • Cysts ± Noncommunicating cysts in renal cortex • Parenchyma seen around cysts differentiates CRD from MCDK • Contour usually normal • Small size Textbook of Diagnostic Sonography, 7th Edition (Hagen‐Ansert fig 63‐19) 99 not specific to CRD 100 Fetus with bladder outlet obstruction due to PUV • Normal kidney size • Pyelectasis • Increased parenchymal echogenicity • Small cortical cysts (arrowhead) 101 UPJ obstruction • 23 weeks: • Increased echogenicity • Small cortical cysts (arrows) • Pelvicaliectasis (hydronephrosis) • 34 weeks: • Cysts are larger • Pelvis contains fluid indicating functioning renal tissue 102 Polycystic Kidney Disease Definition Hereditary disorder that involves bilateral renal cysts Polycystic Kidney Disease • Broadly divided into two forms • ARPKD • ADPKD Noncommunicating cysts 17 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 103 104 Autosomal? Recessive? Dominant? Polycystic kidney disease – classifications 1. 2. Autosomal recessive polycystic kidney disease (ARPKD) • AKA Potter Type I • Formerly known as infantile PKD Autosomal dominant polycystic kidney disease (ADPKD) • AKA Potter Type III • Formerly known as adult PKD 105 • These terms describe the genetic mode of inheritance • A general understanding of genetic inheritance is helpful • For a refresher on how traits and diseases are inherited please review the primer on Learn: “Primer – Genetic Inheritance” 106 Autosomal recessive Autosomal Recessive Polycystic Kidney Disease 107 • Abnormal gene on both chromosomes causes disease • The genes must be inherited from both parents • Therefore, both parents must either have the disease or be carriers of the disease 108 Autosomal recessive PKD (ARPKD) AKA Potter type I, Infantile PKD • Always bilateral • Both kidneys are enlarged and more echogenic than normal • Cysts often not seen due to their small size ARPKD – bilateral, enlarged kidneys 18 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 109 110 ARPKD – sonographic features • Bilateral enlarged kidneys (3‐10 times larger) ARPKD • 28 weeks GA • Increased echogenicity (first seen by 16 ‐ 24 weeks GA) • Coronal fetal abdomen • Parenchymal cysts too small to visualize • • Normal renal contour Both kidneys enlarged, hyperechoic • Pyramids not seen within kidneys • Severe oligohydramnios • Severe oligohydramnios – bladder often not seen 111 112 ARPKD • 24 weeks GA • Coronal fetal abdomen • Large, hyperechoic kidneys • Severe oligohydramnios • Bladder was not visualized 113 ARPKD • Enlarged, hyperechoic kidneys • Retroperitoneal free fluid?! 114 Meckel Syndrome AKA Meckel‐Gruber syndrome Meckel Syndrome • Encephalocele • Encephalocele, polydactyly, and some form of PKD • ARPKD • Ddx: trisomy 13 • Head abnormalities, polydactyly, polycystic kidneys • Polydactyly • Check head and hands Diagnostic Ultrasound, 5th Edition (Rumack fig 39.19) 19 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 115 116 Autosomal dominant • Abnormal gene on one chromosome causes disease Autosomal Dominant Polycystic Kidney Disease 117 • Gene can be inherited from either parent • However, that parent must have the disease 118 Autosomal dominant PKD (ADPKD) ADPKD – sonographic features • Similar to ARPKD • Sometimes larger cortical cysts may be visible • Rarely seen in fetus • Contour may be normal • Pyramids are seen within kidneys • AFV is usually normal – bladder seen Dx: ultrasound and DNA studies AKA Potter type III, Adult PKD • Most common inherited kidney disease • Always bilateral • Often no clinical signs until 40‐50 years of age Common in adults Very rare in fetuses 119 120 Summary – Renal Cystic Disease ADPKD (DNA diagnosis) Enlarged, hyperechoic kidneys; pyramids and cysts seen; bladder and AFV were normal Hydronephrosis MCDK Obstructive CRD ARPKD ADPKD Unilateral or bilateral dilatation of renal pelvis with dilated calyces (communicating “cysts”); normal contour; AFV – variable Early onset obstruction, unilateral or bilateral, multiple cysts varying in size with abnormal contour; AFV – variable Obstruction, unilateral or bilateral, visible parenchyma with increased echogenicity; with/without cortical cysts; usually normal contour; AFV – variable; hydro Hereditary, bilateral enlarged, echogenic (very small cysts) kidneys with normal contour; pyramids not seen; AFV – severe oligohydramnios Hereditary, bilateral, enlarged kidneys; cysts varying in size (rare dx in fetus); pyramids seen; AFV – usually normal Not Cystic Disease 20 ULTR‐3014 OBGYN Sonography 3 Module O.13: Abnormal Fetal Genitourinary Tract 1 Abnormal Fetal GU Tract – Part 1 121 Summary – Renal Cystic Disease Hydronephrosis MCDK ARPKD 122 VACTERL Syndrome CRD ADPKD 123 124 VACTERL syndrome AKA VACTERL association Vertebral anomalies* Anal atresia* Cardiac anomalies TracheoEsophageal abnormalities* Renal/urinary anomalies Limb defect • *Most common Fetal Renal Neoplasm Dx: 3 or more of the above anomalies present 125 126 Fetal Renal Neoplasm • Rarely seen • Most common solid intrarenal fetal mass: • Mesoblastic nephroma Module O.13 Abnormal Fetal Genitourinary Tract Abnormal GU Tract – Part 1 Continued in Part 2 21