Do you know that a cleft lip is not due to an accident or injury, but it is a birth defect? This article looks at the types, causes, diagnoses of birth defects including possible ways of prevention.
By Dr Subhash Rao
Birth defects are development abnormalities or abnormal functionality of organs in a baby while it is still in the mother’s womb, in the developmental stage. There are more than 4000 birth defects which have been identified; some of them are minor that require no treatment or intervention, some of them are serious which require treatment or intervention. A few of them are fatal too!
When the defect is in the organ formation, it is called ‘Structural Defect’ and when there is problem in the functionality or body chemistry it is called a ‘Metabolic Defect’. Congenital Heart defects are the commonest known Structural Defect. Clubfoot, cleft palate & cleft lip, and spine defects (Spina Bifida) are other commonly occurring Structural Defects. Metabolic Defects prevent the body from properly breaking down food to create energy or prevents synthesis of Hormones, Enzymes etc. Common examples of metabolic birth defects are G6PD Deficiency, Phenylketonuria, Congenital Thyroid Defects etc.
Though the cause of each birth defect is not known, some of the known reasons are:
Tests like Ultrasonography, Amniocentesis, and Chorionic Villus Biopsy help in diagnosis of birth defects. These tests, when done at the right time during pregnancy, help in identifying birth defects. Of course, all these tests have limitations
Can birth defects be prevented?
Many birth defects can’t be prevented, but there are some ways to lower the risk of having a baby with a birth defect.
If there is a history of birth defect in the family then it is better to inform your Obstetrician regarding this so that proper genetic counselling and tests can be planned well in advance, and these will help minimize the chance of birth defects in the baby.
The author is Consultant Pediatrician, Hiranandani Hospital, Vashi – A Fortis Network Hospital
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