Common Birth Defects

Birth defects are those defects that are congenitally seen and are caused due to either genetic or environmental factors. These defects can affect any organ, right from the brain to the heart. These defects can be mild and barely noticeable to fatal. These defects can occur at different stages of pregnancy development. Given below are details on the most common birth defects and causes.

Heart Defects
A congenital heart defect is a defect that is present in the structure of the heart and the great vessels of a newborn right from birth. Most heart defects that are seen are either obstructive in nature or they tend to divert the blood and make it flow in an abnormal pattern. These can be fatal at times and are one of the leading cause of birth defect related deaths. Around 1 in 125 babies born in the United States are born with a congenital heart defect. Birth defects that affect the heart include defects like hypoplasia of a chamber of the heart, obstruction defects in the heart valves, septal defects, cyanotic defects, cardiomyopathies, aortic stenosis, pulmonary stenosis, mitral stenosis, coarctation of the aorta, etc. Depending on the severity of the birth defect, there may be no need for any kind of treatment or there may be need for surgical intervention.

Cleft Lip and Palate
One of the most common birth defects is cleft lip and palate. Cleft lip is also known as cheiloschisis while cleft palate is also known as palatoschisis. This is a congenital defect that is seen in around 1 in 700 babies born worldwide. A cleft lip is when there is a cleft or a break only in the lips without involvement of the palate. A cleft lip can be in the form of a small gap or indentation in the lip, which is known as partial or incomplete cleft, or it may continue to the nose, involving the entire upper lip, which is known as a complete cleft. A lip cleft can be one-sided (unilateral), or two-sided (bilateral). A cleft palate occurs when the two plates present in the skull that form the hard palate do not fuse. Due to this, there is a cleft or partition in the roof of the mouth. In such cases, the soft palate may also have a cleft, that is, the cleft may be complete, involving the soft palate, or may be incomplete, that is, present in the form of a hole in the roof of the mouth. Clefts can also occur in other parts of the face, like the nose, ears, cheeks, etc. However, these kinds of craniofacial clefts are relatively rarer.

Down Syndrome
Down syndrome, also known as trisomy 21 or trisomy G, is a chromosomal disorder which is caused due to the presence of all or part of an extra 21st chromosome. This disability is characterized by certain amount of impairment in the cognitive ability and physical growth of an individual. This condition can be diagnosed when the baby is still in the womb with the help of an amniocentesis. Down syndrome is seen in approximately 1 per 800 to 1 per 1000 births. However, it is more commonly seen in children that are born to older mothers. There are certain facial features that make this condition easily recognizable, like microgenia (small chin), macroglossia (large tongue), a very round face and almond-shaped eyes due to the epicanthic fold of the eyelid. This condition also comes with an added risk of congenital heart defects, ear infections, sleep apnea, etc.

Spina Bifida
Another condition that comes under the umbrella of common birth defects includes spina bifida. This condition affects around in every thousand births in the United States. This condition occurs when normal development is interrupted anywhere between the brain and the spinal cord. This condition occurs quite early on in pregnancy, generally in the fourth week following conception. At times, only the bones of the spinal column do not completely develop, which is known as spinal bifida occulta. In this condition, the nerves are not affected and are normal. However, at other times, the spinal cord does not completely form, which leads to neurologic disturbances, as the nerves are affected. This is known as myelomeningocele, which is the most severe form of spina bifida.

These were some common birth defects seen in the United States and elsewhere. These defects may or may not be fatal in nature. It is best to however, always try to check for these defects with the help of an amniocentesis. In the end, all you can do is pray that you have a healthy baby that will go on to live a long and healthy life!