Birth defects also known as congenital anomalies are considered as critical causes of infant and childhood deaths, chronic illness and disability. The World Health Organization defines birth defects as structural or functional anomalies that occur during intrauterine life. These conditions usually develop prenatally.

They may be identified before birth, after birth, and in some cases, much later in life. A birth defect will be evident in about 7.5 per cent of all children by the age of five years. Many of these defects will usually be minor conditions.

Currently, it is estimated that about 6 per cent of all babies globally are born with a birth defect. This then results in hundreds of thousands of associated deaths, the WHO estimates. Figures from the WHO show that congenital anomalies were the fourth largest cause of neonatal death. They contributed to 295,498 recorded neonatal deaths worldwide.

Types of birth defects

Birth defects are mainly classified into two, structural and functional defects. Functional defects are also known as developmental defects. According to the Centre for Disease Control, common structural defects include:

Spina bifida: A condition in which the spinal cord fails to develop properly. This is a type of neural tube defect and can happen anywhere along the spine if the neural tube does not close all the way.

Cleft lip: Also known as Cleft palate, this is a condition in which the baby has an opening or split in the lip or roof of the mouth. A cleft lip may be unilateral (congenital separation of the upper lit such that the nose and the alveolus are affected) or bilateral. (Congenital defect in which there is splits on both sides of the lip).

Club foot: A birth defect in which the foot points inward instead of forward.

Congenital heart defects (CHDs): The most common type of birth defects which affect the heart.

According to the Centre for Disease Control, common functional or developmental defects include:

Down syndrome: A condition that causes physical and mental developmental delays and disabilities.

Sickle cell: A condition in which red blood cells become misshapen and break down.

Cystic fibrosis: A condition that is inherited and which causes severe damage to the digestive system and lungs.

The causes

In about half of all birth defects, there is no specific cause that can be attributed. However, the WHO says that there are certain factors such as genes and maternal nutrition, infections, and environmental that can lead to these conditions. Spontaneous abortions and stillbirths have also been linked with birth defects and neonatal deaths.

“Exposure to radiation, alcohol and substances, certain drugs, and nutritional deficiencies, certain infections in the mother, injuries and hereditary disorders can all result in congenital abnormalities,” says general physician Dr. Patrick Kihiu.

Why Deep Vein Thrombosis is a silent killer; risk factors and prevention

Genes: According to the WHO, gene mutations and the coding of genes can result in a defect. “There is also double the risk of neonatal death, childhood death, intellectual disability and other birth defects if parents are related by blood,” says WHO.

Environmental: Birth defects can also be possible where the mother has been exposed to teratogens. These include substances such as toxins like alcohol, radiation including X-rays, and certain medications. “Working or living near waste sites, mines, smelters, exposure to chemicals and certain pesticides, and tobacco can increase the risk of an expectant mother having a baby with congenital anomalies,” says WHO.

Infections: Types of maternal infections such as rubella and syphilis, and the Zika virus that can result in congenital anomalies. Apart from causing birth defects, Zika virus is also known to cause fetal loss, preterm birth and stillbirths. Other infections that cause birth defects include cytomegalovirus, herpesvirus, parvovirus, varicella (chicken pox), and toxoplasmosis.

Nutrition: Lack of proper nutrition is a critical contributor to birth defects. Insufficient folic acid (folate) in the diet will increase the chances of a foetus developing spina bifida or other abnormalities of the brain or the spinal cord known as neural tube defects. In addition, maternal obesity also increases the risk of neural tube defects. At the same time, excessive vitamin A intake may affect the normal development of an embryo or fetus.

Prevention

Although not all birth defects can be prevented, there are steps you can take to maximize the chance of having a baby without congenital anomalies.

Start your prenatal clinics: According to the Centre for Disease Control’s guide on preventing congenital anomalies, you should start your prenatal care as soon as you think you are pregnant. This will require you to test for pregnancy the moment you miss your cycle, after unprotected sex during the ovulation window, and within the two week period after ovulation.

Folic acid: You will need to get your folic acid in check. Folic acid is a Vitamin B. The CDC recommends that you get 400 micrograms (mcg) of folic acid every day. You should start this at least one month before you get pregnant. Folic acid helps in the formation of the neural tube in a baby’s early development during pregnancy. It prevents defects such as spina bifida and anencephaly (condition in which a baby is born without parts of the brain and skull). You can get 400 mcg of folic acid each day by taking a vitamin that has folic acid in it, or eating fortified foods.

Alcohol: Stop taking alcohol. Also stop smoking.

Medications and infections: Do not take any medications over the counter without prescription. Discuss with your physician about all the medications you might be taking or that you might need to take. At the same time, get a guide from your doctor on how to stop or minimize the risk of maternal infections that might cause congenital anomalies.

Environmental exposure: The WHO recommends that you reduce or eliminate exposure to hazardous substances during your pregnancy. This includes pesticides and chemicals.

Diabetes: Consult your physician and make a plan on how to control diabetes before and during your pregnancy. According to WHO, this can be done through weight management, diet and administration of insulin when needed, and professional counseling.

Treatment

According to the World Health Organization, structural birth defects can be corrected with pediatric surgery. In addition, early treatment can be administered to children with functional problems such as thalassaemia (inherited recessive blood disorders), sickle cell disorders, and congenital hypothyroidism (also known as reduced function of the thyroid). “Some congenital anomalies can be treated with surgical and non-surgical options, such as cleft lip and palate, clubfoot, and hernias,” the WHO recommends.