Table 1.
Case | Age | US findings | PM findings | Urethral findings by microtomography |
---|---|---|---|---|
Optical projection tomography | ||||
1 | 14 W | Dilated bladder; renal pyelectasis | Megacystis; apparent atresia of proximal urethra; hydronephrosis; delivery by D&E | Urethral atresia |
2 | 16 W | Megacystis | Megacystis; dilated posterior urethra with urethral atresia; delivery by D&E after IUFD | Urethral atresia |
3 | 39 W | Megacystis; ascites and pleural effusions | Megacystis; dilated posterior urethra; “posterior urethral valves” | Type III PUV (obstructive diaphragm) |
MicroCT | ||||
4 | 17 W | Dilated bladder with inferior keyhole appearance; echogenic kidneys with pyelectasis; ascites | Dilated urinary bladder; paucity of renal tubules and possible collapsed cysts; delivery by D&E | Urethral atresia |
5 | 19 W | Enlarged bladder with keyhole appearance; echogenic kidneys with small cysts | Megacystis; dilated posterior urethra; obstructed urethral orifice; cystic renal dysplasia; delivery by D&E | Urethral atresia |
6 | 19 W | Thickened bladder wall with inferior keyhole appearance; hydroureter | Megacystis; hydroureter; proximal urethral diaphragm | Type III PUV (obstructive diaphragm) |
7 | 25 W | No prenatal care | Prune belly, phenotype, with massively distended abdomen, ascites, and hypoplastic abdominal muscles; megacystis with urethral obstruction; hydroureter; hydronephrosis | Tortuous, stenotic posterior urethra |
8 | 31 W | Postnatal US: enlarged bladder; reproductive organs not identified in genital region, inguinal canals, or pelvis | Urethral stenosis; atypical insertion of ureters and R-V fistula (VACTERL) | Severe urethral stenosis; ectopic seminal vesicles and insertion of ureters (at dome of bladder) |
9 | 21 W | Distended abdomen with cystic mass of uncertain location | Hydroureter; hydronephrosis; urethral atresia | Keyhole dilatation of posterior urethra, with urethral atresia |
10 | 22 W | Enlarged bladder; keyhole appearance of posterior urethra | Megacystis; keyhole dilatation of posterior urethra with probable atresia | Megacystis; kinking of dilated posterior urethra with associated stenosis; mild poststenotic dilatation of urethra with obstructing diaphragm (COPUM) in distal-most urethra |
US indicates ultrasound (prenatal unless designated otherwise); PM, postmortem; W, weeks gestation; D&E, dilatation and extraction; IUFD, intrauterine fetal demise; PUV, posterior urethral valves; R-V, rectovesical; VACTERL, association of vertebral, anal, cardiac, tracheo-esophageal, radial or renal, and limb anomalies.