Fetal Urologic Anomalies

Transcription

1 Fetal Urologic Anomalies Kathryn Drennan, MD Elizabeth McKinney, MD MultiCare Regional Maternal-Fetal Medicine

2 What you should know They are common Account for 15%-20% of all congenital anomalies Associated with other anomalies 8.6% will have aneuploidy VACTERL syndrome Some are treatable Shunting must be done early Some are devastating Termination of pregnancy may be indicated Perinatal Mortality: 30% Damen-Elias et al; Congenital renal tract anomalies ; Ultrasound Obstet Gynecol;2005; 25:

3 Embryology

4 Genitourinary Tract Comprised of kidneys, ureters, bladder, urethra, adrenal glands and internal and external genitalia. Kidneys can be identified by weeks and internal architecture as early as 16 weeks. The cortex is intermediate in echogenicity and the hypoechoic medullary pyramids are arranged symmetrically around the renal sinus.

5 Fetal Renal System Ultrasound Evaluation Are there two kidneys? Where are they? Is the renal size and echogenicity normal? Are anechoic areas cysts or hydronephrosis? Are the ureters visible? Normal ureters are never visible Is the bladder normal in size and shape? Do the adrenal glands appear normal in size and morphology? Are the genitalia normal? Woodward et al; Diagnostic Imaging: Obstetrics; 2 nd Ed.; 2011; pp8:2-8:97.

6 Pyelectasis Fetal Renal System Diagnostic Approach Obstructive lesions (hydronephrosis) Unilateral or bilateral Oligohydramnios-associated lesions Poor outcomes Unknown cases

7 Pyelectasis Guidelines

8 Case 1 33y G2P0 referred for anatomic survey. 19 weeks. Female. Dilated L pelvis, ureter. Nl bladder, right kidney and AF.

9 Hydronephrosis Differential Diagnosis Transient Physiologic benign Ureteropelvic junction (UPJ) obstruction 10% Males 3: % bilateral A-P > 3 cm, nl bladder, AF, ureter Vesicoureteral reflux 33% M>F Spontaneous resolution Ureterovesical junction (UVJ) obstruction 4% Dilated ureter Nl VCUG Multicystic dysplastic kidney (MCDK) Noncommunicating cysts replace parenchyma Enlarged Bilateral- 20% Usually involutes with time Posterior urethral valves Membrane results in bladder outlet obstruction Males only Dilated bladder, oligo Ureterocele Anechoic cystic structure in bladder Incidental finding Dilation of one moiety of a duplex kidney Management of neonatal hydronephrosis. J. M. Belarmino, B.A. Kogan.Early Human Development (2006) 82, 9-14

10 Case 1 Hydronephrosis Transient Physiologic Ureteropelvic junction obstruction Vesicoureteral reflux Ureterovesical juction obstruction Multicystic dysplastic kidney Posterior urethral valves Ureterocele Dilation of one moiety of a duplex kidney

11 Case 1 Diagnosis: SFU Grade II Spontaneous labor at 38w 3.7 kg female VCUG at 2 weeks- normal Renal ultrasound at 2 weeks

12 Society of Fetal Urology (SFU) Grading System Standardizes neonatal hydronephrosis Based on long-axis appearance of renal parenchyma and pelvicalyceal system Only grades III and IV are thought to be clinically significant postnatally. Management of neonatal hydronephrosis. J. M. Belarmino, B.A. Kogan.Early Human Development (2006) 82, 9-14

13 Case 2 36y G2P1 followed at outside facility for pyelectasis. Seen in our office at 26 weeks.

14 Case 2 Transient Physiologic Ureteropelvic junction obstruction Vesicoureteral reflux Ureterovesical juction obstruction Multicystic dysplastic kidney Posterior urethral valves Ureterocele Dilation of one moiety of a duplex kidney

15 Case 2 Duplicated Collecting System Repeat C/S at 39w5d 4.5 kg female Renal U/S- DOL 1- R Hydronephrosis 2 weeks- VCUG normal 2 months- Nuc Med Mag 3 Renogram

16 Duplicated Right Renal Collecting System Incidence: Bilateral 10-20%. With ectopic ureterocele 1:9000 live births Without ureterocele 1:150 general population Left > right Females > males Findings: asymmetry dilated ureter(s) ureterocele normal lower pole moiety Look for other anomalies Gynecologic in 50% of affected females May change prognosis and management Prognosis: depends on degree of renal damage from reflux and obstruction Partial duplication less likely to have ureterocele Woodward et al; Diagnostic Imaging: Obstetrics; 2 nd Ed.; 2011; pp8:2-8:97.

17 Case 3 Transient Physiologic Ureteropelvic junction obstruction Vesicoureteral reflux Ureterovesical juction obstruction Multicystic dysplastic kidney Posterior urethral valves Ureterocele Dilation of one moiety of a duplex kidney 37y G1. Initial scan at 18w. L hydroureter.

18 Case 3 Follow up every 3-4 weeks. Ureterocele. Hydronephrosis. Pediatric urology consultation at 35w.

19 Case 3 DOL #1 37w5d. Oligohydramnios (2.5 cm) Delivered by primary C/S for NRFHRT. 3.51kg male.

20 Case 3 Left Ectopic Ureterocele 2 weeks- VCUG Ureterocele left of midline. 2 months- cystoscopy and TUR Post op dx L ectopic ureterocele Plan: VCUG and RUS in 3 months

21 Ureterocele Congenital dilatation of intramucosal segment of ureter with prolapse into bladder Incidental finding in work-up of hydronephrosis Often associated with duplicated collecting system Ectopic:simple 3:1 Ectopic- if any portion is situated at bladder neck or urethra regardless of position of orifice 60-80% are ectopic Woodward et al; Diagnostic Imaging: Obstetrics; 2 nd Ed.; 2011; pp8:2-8:97.

22 Case 4 32 yo G2P0 at 18 weeks. Oligohydramnios. Anatomy limited. Male fetus.

23 Oligohydramnios Premature rupture of membranes Post-term TTTS Placental insufficiency Bilateral renal anomalies Bilateral renal agenesis Bladder outlet obstruction Chest anomalies IUGR Aneuploidy Idiopathic Woodward et al; Diagnostic Imaging: Obstetrics; 2 nd Ed.; 2011

24 Case 4 Bilateral Renal Agenesis Pregnancy course: Genetic counseling No amniocentesis Declined NIPT Seen by Palliative Pediatric service to develop plan for non-intervention at delivery. Seen q4-6 weeks for ultrasound. No increase in AFI Presented in active labor at 33 weeks. Expired < 5 min after birth. No postmortem exam.

25 Bilateral Renal Agenesis Absence of renal tissue Identification of renal arteries is crucial. AF can be normal in 1 st trimester Renal contribution minimal until 16 weeks Anhydramnios in the 2 nd trimester. 3:1 M:F ratio 1:4-6,000 births 3% recurrence Associated anomalies Lethal 33% stillborn Pulmonary hypoplasia respiratory failure in survivors. Woodward et al; Diagnostic Imaging: Obstetrics; 2 nd Ed.; 2011

26 Case 6 19 yo G1 initial scan at 15 weeks.

27 Case 6

28 Case 6 46 XY; UNA 101 (<100); Ucl 89 (<90); uca 4.6 (<8); Uosm 281 (<210); U prot 14 (<10)

29 Case 6

30 Case 6

31 Case 6 Outcome: 36w6d c/s for labor, breech. APGARs 4/6 Bilateral club feet, arnold chiari malformation Suprapubic catheter placed immediately after delivery Died < 1 DOL from pulmonary hypoplasia

32 Posterior Urethral Valves DDx: urethral atresia (usual diagnosis in female), prune belly, megacystis microcolon (4:1 female:male) Mortality 20-50% (mostly due to pulmonary hypoplasia) 45% of survivors have progressive renal insufficiency (~30% or more require dialysis) 1/8,000-1/25,000 males Vesicoamniotic shunting decreases pulmonary mortality, does not improve renal outcomes No other associated anomalies Inadequate amniotic fluid prior to 26 weeks 10% risk of procedure related loss, 30% risk of shunt failure Woodward et al; Diagnostic Imaging: Obstetrics; 2 nd Ed.; 2011; pp8:2-8:97.

33 Case 7 21 yo 21 weeks, otherwise uncomplicated.

34 Case 7 Uncomplicated vesicocentesis Less urine than anticipated More difficult than anticipated Urinary electrolytes good prognosis (other than elevated B2 microglobulin) Karyotype 46 XX.? Fetal MRI: Large bladder with patent urachus; right kidney dysplastic with rupture of calyx; left hydronephrosis; dilated bowel; absent spleen; absent stomach, absent rectum

35 Case 7

36 Case 7 Anhydramnios continued, patient declined termination Induction of labor at 27w5d Autopsy: Right aortic arch, absent left subclavian vein, esophageal atresia, duodenal atresia, absent anus, rectum ends in bladder, ambiguous genitalia (phallus with ovaries and no uterus), pulmonary hypoplasia, atrophic right kidney, cystic left kidney Diagnosis: Some similarities to megacystis microcolon, but doesn t completely fit this picture. Likely undescribed (sporadic) multiple anomaly syndrome

37 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Rare cause of congenital intestinal and urinary dysfunction Smooth muscle myopathy Autosomal recessive, locus not yet mapped Normal amniotic fluid volume Distention of bladder with hyrdonephrosis Can have multiple obstructions in intestines Mortality high in 1 st year of life Malnutrition, sepsis, renal failure Supportive treatment/ileostomy May require multiorgan transplant for survival Woodward et al; Diagnostic Imaging: Obstetrics; 2 nd Ed.; 2011; pp8:2-8:97.

38 Case 8 22yo 20 weeks referred for cystic abdominal mass No other complications.

39 Case 8 27 weeks: growth and fluid check

40 36 week growth and fluid check Case 8

41 Decision-making: Case 8

42 Case 8 Outcome: Uncomplicated primary LTCS.

43 Multicystic Dysplastic Kidney Diagnosed by the presence of multiple various size noncommunicating cysts (90% with enlarged kidneys) 80% unilateral, 20% bilateral Left sided > Right sided Can be segmental with duplicated collecting system 40% have a contralateral renal anomaly 5% will have a non-renal anomaly (i.e. SUA) Other syndromes with cystic kidneys: trisomy 13, trisomy 18; Meckel-Gruber syndrome; autosomal dominant polycystic kidney disease Fatal if bilateral involvement (anhydramnios) Epidemiology: 1/1000 (unilateral); 1/5000 bilateral Woodward et al; Diagnostic Imaging: Obstetrics; 2 nd Ed.; 2011; pp8:2-8:97.

44 Multicystic Dysplastic Kidney (con t). MCDK often involutes with time 33% at 2 years 59% at 10 years Complications: pulmonary hypoplasia; infection, hypertension, mass effect; Wilms tumor Neonatal needs: nuclear renal function test Ultrasound surveillance every 6 months x 1 year, yearly until involution Surgical excision for complications Overall prognosis for unilateral MCDK usually excellent Woodward et al; Diagnostic Imaging: Obstetrics; 2 nd Ed.; 2011; pp8:2-8:97.

45 Fetal Urologic Anomalies Summary Wide spectrum of disorders Often explained by embryology Associated with aneuploidy Challenging and interesting Definitive diagnosis often requires postnatal evaluation High rates of postnatal pathology Renal insufficiency, recurrent UTI, nephrolithiasis, urinary retention In-utero therapy for posterior urethral valves Expectant management with periodic assessment of AFI and growth Deliver at term unless indicated earlier Pediatric urology consultation (often helpful before delivery)

46 Findings: cystic mass in abdomen, normal kidneys, bladder. Female fetus. Dx: ovarian cyst. Prognosis: excellent

47 Findings: Oligo. Cystic dysplasia of right kidney. Left renal agenesis. Dx: Mixed pattern - Unilateral agenesis + contralateral anomaly Prognosis: Depends on presence of functioning kidney and other anomalies

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