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Birth defects: Can we prevent them?

Birth defects are a result of disturbed organogenesis due to factors such as nutritional deficiencies, viral infections and some medicines which are typically called teratogens.

Anencephaly: the absence of the brain and it’s cover called the vault,

Meningomyelocele: the spinal cord coverings protrude outside the body of the baby,

Omphalocele/ exomphalos: the baby’s intestines, liver, or other organs stick outside of the belly through the belly button.

Spina bifida: the spinal cord and the spine of the baby are not developed properly are some forms of birth defects.

Birth defects even though identified at birth are created when the baby is in its embryonic phase, the basic cellular phase of existence when it is getting implanted or attached to the mother’s womb. Through the process of development which is called

organogenesis, the cellular form transforms into the baby with organs and systems which develop, matures and is born at the end of 280 days or 40 weeks which is the average duration of the human pregnancy.

March 3 since the year 2015 is being observed as the World Birth Defect Day with the purpose of increasing awareness and observing methods of preventing birth defects through factors that can be modified. As an OBG specialist, I feel responsible to educate women and families planning babies about these birth defects and that is why this write up

What are birth defects?

Birth defects also called congenital anomalies, conditions or abnormalities which can cause structural deformities and functional malformations in the newborn baby.

Types of neural tube defects NTDs.

What are the types of birth defects?

There are many types of birth defects but simply put they can be structural where some part of the body is not formed or is improperly formed.

Structural defects:

Anencephaly, absence of kidney/s called renal agenesis, absence of limbs in the baby called phocomelia, tracheoesophageal fistula where there is a passage between the breathing and the swallowing pipes are structural birth defects.

Functional defects:

Down’s syndrome( defective chromosome21mental retardation ), Edward’s Syndrome (defective chromosome 18 causing developmental delays ) are functional birth defects.

Both structural, as well as functional disorders, can coexist

Spina bifida: the structure of the spine is malformed and is associated with functional inability to walk or Turner’s Syndrome: the chromosomal defect ( absence of one X chromosome: XO ) is associated with short stature, absence of adult sexual growth and absence of ovaries and inability of menstruation and get children.

Birth defects can be lethal i.e. severe and noncompatible with life as in the baby when born may not be able to survive or will have a very poor quality of life despite corrective measures or milder versions that are correctible and subtle such as cleft lip and palate and CTEV (congenital talipes equinovarus) or clubfoot a condition where a child presents with either one or both feet rotated internally at the ankle. NTDs or neural tube defects are the birth defects of the brain, spine or spinal cord which form the nervous or the neurological system.

What is the occurrence of birth defects?

Approximately 1 in 40 pregnancies can be affected by birth defects but the numbers may be wrong due to the absence of correct reporting and data. India has a dubious distinction of having the largest number of infants with birth defects and genetic disorders in the world and has been identified as the leading cause of neonatal and infant mortality. it is a major public health issue with inadequate population-based data and research. NTDs are the birth defects that are of epidemic proportions inviting the WHO focus in 2013 on Birth Defect Prevention in South East Asia.

Can birth defects be prevented?

Considerable numbers, to an extent 0f 70-90% of birth defects can be prevented by proper pregnancy planning, prepregnancy health optimization and avoiding exposure to teratogens. Diet rich in folates and correction of iron deficiency anemia has proven to reduce the risk of birth defects to a large extent. Its always better to follow the checklist for planning babies. This is the link to refer to self administer the checklist. It is a set of DIY questions to be asked to self before planning a pregnancy and find solutions to ensure a good pregnancy outcome.

Which are the teratogens identified to cause birth defects?

Medications such as Eptoin taken for control of seizures as treatment of epilepsy are known to cause birth defects. Diet deficient in folic acid, folates, vitamin B12 can predispose to birth defects. Raised sugars called hyperglycemia present in diabetic and obese women can predispose to birth defects. Alcohol and issues such as exposure to excessive heat, radiation such as with radiotherapy or radiographs have been identified as a teratogen. certain medicines taken for control of blood pressure are known to cause congenital heart defects in the baby.

Why is it essential to take folic acid and B12 before planning babies?

Deficiencies of folates are corrected by regular consumption of supplements yielding at least 400mcg of folic acid at least 100 days prior to conception . Formation of the neural tube is occurring simultaneously when the embryo is getting implanted which corresponds to the expected date of menstruation . Pregnancy is usually confirmed after a week of missing periods by then the foundation of the neural tube is already laid as in the picture below.

Week-wise growth of your baby !!!

Ths its important that following points are properly noted to prevent birth defects

  1. Optimise weight and embark on a healthy lifestyle with healthy folate-rich diet, exercise routines and healthy habits e,g stop alcohol, smoking, excessive caffeine, etc:

  2. If a diabetic, hypothyroid , hypertensive and epileptic shift to appropriate medications with your doctor’s guidelines and start high dosages of folate supplements

  3. Take tests for anaemia, hyperglycemia and above conditions

  4. Consult your OBG specialist before planning pregnancy for pre conceptional guidelines.

neural tube defects are preventable with folic acid supplements

Next article we will discuss the following two issues

  1. How are birth defects diagnosed?

  2. How are birth defects tackled?


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