Correlations between Genetic Analysis of Anencephalic Foetuses with Spina Bifida, Cleft Palate, Single Umbilical Artery and Histological Architecture of Brain, Brain Stem and Spinal Cord.

Arpan Haldar; Manisha R Gaikwad; Hare Krishna; Soumya Chakraborty; Provas Banerjee

Volume : VIII, Issue : IV, April - 2019

Correlations between Genetic Analysis of Anencephalic Foetuses with Spina Bifida, Cleft Palate, Single Umbilical Artery and Histological Architecture of Brain, Brain Stem and Spinal Cord.

Arpan Haldar, Manisha R Gaikwad, Hare Krishna, Soumya Chakraborty, Provas Banerjee

Abstract :

Congenital malformations have emerged as the 3rd commonest cause of perinatal mortality in India. 2.5% babies are born with birth defects in India. Among all congenital anomalies, central nervous system anomalies are the commonest. Anencephaly is the most common CNS malformation. The present study was undertaken to evaluate the development of ain and spinal cord in anencephalic human fetuses (specimens). Human fetuses with anencephaly were collected after obtaining written consent from parents and clearance from ethics committee of the institute as per declaration of Helsinki guidelines after spontaneous miscarriages, therapeutic abortions and still births. All the specimens were fixed in formalin and then dissected. Gross examination and histological studies of the ain and spinal cord were performed in each specimen. Genetic analysis by Karyotyping and FISH was done on the foetuses. The ain was observed as a dark own undifferentiated mass with complete absence of the cerebellum, pons, medulla and midain. Spinal cord was normal in appearance in all foetuses with anencephaly. Histological examination of ain showed venous vessels of varying caliber interspersed with connective tissue, similar to an angioma along with islets of nervous tissue which mainly comprised of scattered nerve cells, astroglial cells and cavities lined by ependyma. The spinal cord is normal in fetuses with anencephaly only while it is deformed in anencephalic fetuses with meningomyelocele. Our findings indicate that there is no functional organization of ain in anencephalic fetuses, and the survival of such fetuses is not possible.