Lymphangiomas are benign cystic lesions caused by the failure of lymphatics to communicate with the lymphatic-venous drainage system. They have an incidence at birth of about 1 in 6000 and can occur at almost any location, most commonly the soft-tissues of the neck. Prenatal diagnosis is by ultrasound, where they appear as cystic masses of variable size, often with septations inside and absent flow on color doppler. Antenatal management involves serial monitoring of the fetus by ultrasound with attention to possible pressure effects and airway obstruction depending upon the size and location of the lymphangioma. The mode of delivery must be decided based on the possibility of obstructive labor or the need for resuscitation. Rarely, a large mass over the anterior neck causing airway obstruction may need an EXIT procedure.Large cystic hygromas need surgical excision while small to medium size lesions can be managed by conservative measures including sclerotherapy. We report three cases of isolated fetal cystic hygromas diagnosed prenatally at various gestations. Two were of moderate size over the anterolateral aspect of the neck and one case had a huge lymphangioma involving the entire right side of the chest wall.
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.
Reports on incidence of congenital anomalies may be an underestimation of the problem owing to deficiencies in maintaining birth defect registries, reliable medical records, statistics and uniformity in reporting. International Classification of Diseases and Related Health Problems is a system used to translate diagnosis of disease and other health problems from words into an alphanumeric code to provide a common language to share health information across the globe and forms a foundation for
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