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July September 2018 | Vol. 11 | Issue 3 | 11-19
Genetic Approach to Congenital Malformations
Dr. Shubha R Phadke
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh
Address for Correspondence Email: shubharaophadke@gmail.com
Development of a multicellular organism from a single cell is a very complex, co-ordinated process governed by many genes and their timely expression in various organs at various stages of embryogenesis. It is not surprising that in some embryos some things go wrong during development leading to structural abnormalities of various organs. Major defects in very early stages of embryogenesis may not be compatible with survival and lead to spontaneous abortions. Most of the structural abnormalities/anomalies also known as malformations of internal or external organs occur during the first trimester (dysmorphogenesis), though they may be detected in the second trimester of pregnancy by fetal ultrasonography or after birth during the neonatal period or in infancy. Some malformations involving abnormalities of the size of an organ like microcephaly or obstruction causing hydronephrosis or hydrocephalus may become obvious during the later part of pregnancy or during infancy. Though all the structural defects are congenital, i. e. present since birth, internal anomalies may not be detected till they manifest with some symptoms. Malformations of internal organs can be diagnosed by various imaging techniques like ultrasonography, echocardiography, CT scan or Magnetic Resonance Imaging (MRI) which are used when there are some symptoms indicating the possibility of internal malformations. Individually each malformation is rare but 3% of neonates have one major malformation and around 0.7% of neonates have multiple malformations. This is a brief review about the various birth defects and malformations and a systematic clinical approach to diagnose the same.
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