Congenital ventricular aneurysm is a rare cardiac malformation characterized by protrusion or out pouching of a portion of the ventricular wall. It is important to differentiate an aneurysm from diverticulum, as the latter has favorable prognosis. The aneurysms are usually large and have broad-based communication with the ventricular cavity in contrast to diverticuli, which are small and connected by a narrow base.

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The objectives of the study were to recognize the ultrasound findings and describe the pattern and spectrum of cloacal anomalies in prenatal life with special attention to pattern recognition in males. This study included a retrospective cohort analysis over 3 years. Of the 14 cases suspected prenatally, the diagnosis was confirmed by fetal autopsy in ten and postnatal surgery in two. There were 8 male fetuses, 3 females and 2 in whom sex couldn't be determined and no information on sex was available in 1 case. The major findings on antenatal ultrasound were abdomino-pelvic mass in 6 (43%), ascites in 6 (43%), oligohydramnios in 12 (86%), hydronephrosis in 3 (21%), renal agenesis in 5 (36%), multi-cystic kidney disease in 4 (29%), non-visualization of bladder in 12 (86%), single umbilical artery in 2 (21%), ambiguity of external genitalia in 5 (36%), cardiac defects in 4 (29%), limb defects in 3 (21%) and spine anomalies in 3 (21%). Prenatal diagnosis of cloacal malformation should be suspected in the presence of a pelvic cystic mass with fluid-debris level and is reinforced when renal anomalies, non-visualization of bladder and anhydramnios accompany. More research is needed to focus on the pattern of presentation in male fetuses.

Sirenomelia is an extremely rare anomaly characterised by varying degrees of fusion of lower limbs. Anomalies involving uro-genital tract, colo-rectal atresia and vertebral defects are often associated. Prognosis largely depends upon concomitant visceral malformations as well as the degree of fusion defect. Classical sirenomelia is incompatible with life although there are few report of survivors. Prenatal diagnosis, though possible, is difficult to make due to associated anhydramnios and anomalies. Ultrasound is the main diagnostic modality with fetal MRI playing a complementary role. We describe three cases of fetal sirenomelia that presented within a span of 1 year and propose possible vascular insult as the cause.

The study aimed to determine the role of autopsy in refining the antenatal diagnosis of fetal anomalies and its effect on genetic counseling. The objectives of the study were to correlate the findings of antenatal ultrasound with that of perinatal autopsy, to determine the contribution of autopsy in refining the antenatal diagnosis and whether it altered the genetic counseling. This was a prospective, non-interventional analytical study conducted in the Department of Obstetrics and Gynaecology, JIPMER with the approval of Institutional Ethics Committee. Fourty-six fetuses which were stillborn/aborted or expired in newborn period due to congenital malformations were included. The findings of antenatal ultrasound were correlated with postnatal autopsy findings. The genetic counselling based on antenatal findings were compared with that based on postnatal findings and any change in the counselling given were noted and analysed. More than 70% of anomalies among the 46 fetuses included in the study were detected by the mid trimester anomaly scan. Male predominance was seen in this study (24 male fetuses). A definitive diagnosis or documentation of anomalies by autopsy was possible in all 46 fetuses (100%). Single system anomalies were noted in 24 (52.17%) fetuses and multisystem involvement was observed in 19 (41.3%) fetuses. Among fetuses with multiple malformation syndrome, 15.8% of fetuses had probable single gene etiology, 26.3% were probably sporadic and 57.9% were unclassified. Autopsy was valuable in prenatal genetic counseling by confirming the USG findings with (5) or without additional information (30) in 35/46 (76.1%) cases and by changing the diagnosis in 11/46 (23.9%) cases. Autopsy led to refinement of the recurrence risk in 23.9% of cases (increased in 19.6% and decreased in 4.3%). From the present study, we conclude that the results demonstrate a good correlation between prenatal diagnosis by USG and post mortem diagnosis by autopsy. Prenatal ultrasound and postnatal autopsy are complementary and supplement each other. The value of autopsy in reconfirming the ultrasound finding and providing additional information is irrefutable. Though autopsy may not provide exact diagnosis or establish definitive etiology, it is an invaluable tool for genetic counseling in fetal anomalies.