Described here are a series of four cases of congenital high airway obstruction in the fetus. All of the patients presented in the second trimester and all had hydrops fetalis. Three cases had bilateral hyperinflated lungs, midline shift of heart, flattening or inversion of the diaphragm, and fetal ascites. Autopsy was performed in one of these three and showed laryngeal atresia. In one fetus, there was only a unilateral huge enlargement of the lung with mediastinal shift. On autopsy, this fetus had atresia of right main bronchus. All parents had terminated the pregnancy following the prenatal diagnosis. Laryngeal atresia is an extremely rare fetal anomaly with dismal prognosis. It is important to differentiate the condition from other lesions with a more favorable prognosis, such as congenital adenomatoid malformation of the lung. Much research is needed in the future to explore the therapeutic options, including fetoscopic intervention or transplantation of stem cell-derived airways.

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.

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.