Rajni Fetal Medicine center, Ahmedabad, India

Case report:

A 19-year-old patient, primi gravida, non-consanguineous marriage, G1P0A0L0, had previous scan at 17 weeks with no anomaly. She was referred for cystic mass in lower fetal abdomen at 30 weeks and rescanned at 31 weeks 4 days.

Figure 1, 2: Normal biometry & no anomaly of head along with changes of hydrops – Oedema.

Figure 3: Show dilated large 2-cystic mass in lower abdomen.

Figure 4: Show 2-cystic mass in pelvis

Figure 5: 3-D inversion with mirror image confirmed 2-cystic mass in pelvis with early bilateral hydronephrosis

Figure 6: 3D inversion with 2-cystic mass deep in pelvis with hydronephrosis & dilated ureter.

Figure 7: Ambiguous genitalia with no anus

Figure 8: 2-vessel cord

Figure 9,10: Show normal face.

Figure 11: Anterior abdominal wall with cord insertion in 3D-scan.

Figure 12: Early polydramnios (AFI: 19 cm)

Patient had undergone preterm delivery at 32 weeks. With patient’s consent, radiograph after injecting dye under sonography guide into cystic masses were taken (No perineal opening) &  then autopsy was done. Cloacal dysgenesis was confirmed by radiograph. Chromosomal analysis was not done.

Figure 13: Autopsy 1 – Perineum of baby – no perineal opening

Figure 14: Autopsy 2 – Ambiguous genitalia with 2-cystic mass in perineum

Figure 15: Autopsy 3- cystic masses in lower abdomen (posterior one was opened), anterior one was still closed. On closed look it was having perineal attachment from inside. Both kidneys were showing hydronephrosis grade II. Large bowel contained blackish tint with solid meconium.

Figure 16: Autopsy 4 – 2 -vessel cord

Figure 17: Cloacal dysgenesis was confirmed by radiograph.