Last Updated December 20th, 2021
What are birth defects?
A birth defect or a congenital disorder is an abnormality in the structural or functional aspect of a baby that is present from the birth. These abnormalities can exist in any part of the body and can affect any organ. Experts reveal that there are more than 4,000 different kinds of birth defects that have been observed in human babies. Many of them could be minor – symptoms that require no treatment or can be treated with simple treatment procedures.
Cleft palate is one such congenital physical anomaly that can be readily treated by safe surgical procedures. However, unfortunately, there is a wide range of birth defects that affect some of the most vital functioning of the newborn’s body leading to severe physical, developmental, and intellectual disabilities.
How common are birth defects?
As per the latest statistics, 1 out of every 33 births in the USA is observed to have a birth defect. On average, every 4 ½ minutes, one baby born in the USA has some form of a congenital disorder. On a global scale, in the year 2015 around 96 million people were found to be having a birth defect.
Scientists are yet to pinpoint the exact cause of birth defects. This is because every pregnancy is exposed to (and vulnerable) to a plethora of genetic and environmental factors. During the 1st trimester, aka, the 1st 3 months of pregnancy, the fetus is in the stage where it is in the most nascent stage of organ-development. It is during this phase that most birth defects occur. In many cases, the disorder is either observed immediately upon birth because of the visible symptoms (such as cleft lip or spina bifida). But in others, if the anomaly exists in one of the internal organs, such as congenital heart defects, it can be hard to detect.
What might be responsible for it?
As mentioned before, the actual cause(s) still elude the scientific community. But experts have strong reasons to believe that there are certain factors that increase the risk of a fetus developing a birth defect. In order to prevent the onset of such disorders, it is important to be aware of these risky behaviors and toxins.
Risky lifestyle habits
- The biggest faulty habit that could lead to a birth defect is alcohol and tobacco consumption, also engaging in recreational drugs.
- Exposure to harmful medicines or food (basically anything used or consumed) that can hamper the growing fetus.
- Infections during pregnancy can also be responsible for birth defects. Toxoplasmosis (that usually spreads via cat feces) , rubella, and chicken pox increase the risk by manifold.
- If an individual has someone with a birth defect in the family tree, it increases the chance of giving birth to a baby with a congenital disorder.
- Cystic fibrosis and Down’s syndrome are few of such disorders which have a strong genetic factor attached to them.
- Advanced maternal age is also counted as a leading factor for the occurrence of birth defects. In many cases, it leads to high blood pressure during pregnancy (preeclampsia) leading to pre-term births and birth defects. The risk factor increases manifold if the maternal age is more than 35 years.
- Recent studies reveal that even advanced paternal age could be linked to congenital disorders. Technically, the father’s germ cell passes on more genetic mutation than the mother’s and the male germ cells acquire more mutations with age.
- Gestational diabetes – the onset of high insulin resistance during pregnancy (gestation) and even obesity can lead to the fetus developing birth defects.
- 1 out of every 10 cases of birth defects is caused due to exposure to a teratogenic agent – it could include an infectious agent, chemical, toxin, or a drug.
- The most popular teratogenic drug is thalidomide – a medicine for inducing sleep and controlling vomiting symptoms. Another dangerous drug for pregnant women is tetracycline which is an antibiotic.
- Drinking water which is contaminated with harmful chemicals such as nitrates, chlorine, benzene, fluoride, and other heavy metals has strong links to birth defects. These chemicals mostly cause central nervous system disorders and cardiac defects.
- The exposure to these toxins can also happen if the pregnant woman is living in the vicinity of mines, landfills, industrial areas etc.
- Harmful radiations (most noted in case of female survivors of Hiroshima-Nagasaki attacks who went on to conceive later) can severely alter the fetal DNA.
- Scientists now have reasons to believe that socioeconomic status also plays a major role in healthy fetal development. Lack of financial resources, living in overcrowded areas, mother’s lack of nutrition, and deprived neighborhoods can spell disaster for the unborn baby.
Severe birth defects prevalent globally
The word hydrocephalus literally translates to “water in the brain” and it refers to the medical condition where there is an excess accumulation of CSF or cerebrospinal fluid. The main function of this fluid is shock absorption, immunity, and excretion of metabolic wastes. New born babies with hydrocephalus show an excessively large skull due to the increased volume of fluid. Hydrocephalus is a severely disabling neurological condition that is largely inherited genetically and is mostly related to spina bifida. Any neural tube defect (such as spina bifida) where the spinal cord is exposed often causes a leakage of CSF leading to hydrocephalus.
This condition is prevalent is 0.1% of all live births (roughly 1 out of 1000) globally. In the USA, the prevalence is slightly higher; 0.5%. The major cause of why a fetus develops this condition can be traced back to the onset of NTD (neural tube defect). Recent statistics reveal that almost 50-70% of NTDs can be prevented by administering the right amount of folic acid (a water soluble vitamin B).
Another significantly disabling birth defect is anencephaly. In this condition, the brain and skull are poorly (or rather incompletely) formed. This major neural tube defect happens during the 23rd-26th day of conception when the head of the neural tube (the part that forms the brain and the spinal cord) fails to close. Every year, 3/10,000 live pregnancies in the USA show the symptoms of anencephaly. This is close to 1200 cases of anencephaly in the USA alone.
Anencephaly is a highly lethal condition. Infants born with this major disorder succumb to the condition within a few hours of birth. Most of the cases of anencephaly end up as still births. Just like hydrocephalus, anencephaly can be majorly averted by adding the right amount of folic acid in the maternal diet. Additionally, successful management of gestational diabetes can help reduce the risk of anencephaly. In fact, studies have shown that since the entry of folic acid fortified cereals in the American market there has been a significant decline in the number of NTDs reported countrywide.
Sickle cell disease
15 out of every 1000 births in the USA are born with this condition, which medically refers to a group of hereditary blood disorders. Owing to the mutations in the hemoglobin gene, sometimes the RBCs (red blood cells) turn “sickle-shaped”. The RBCs are the carriers of oxygen within the body. In sickle cell disease, the misshaped RBCs are unable to transport an adequate amount of oxygen within the body. The consequence of this could range anywhere between anemia (shortness of breath and fatigue) to organ failure due to a poor oxygen supply.
In totality, sickle cell disease impacts the liver, heart, gallbladder, kidneys, eyes, and joints – basically each and every part of the body. Insufficient oxygen leads to episodic pains, poor vision, organ deterioration owing to frequent infections, and developmental issues. Sickle cell disease is a purely genetic condition. Studies reveal that globally, 5% of the population carry the gene for this disease (the sickle cell disease) even though they don’t experience the symptoms themselves.
How important is maternal (and fetal nutrition) in preventing birth defects?
Perhaps, the most important indicator of fetal and maternal health is maternal nutrition. During pregnancy, women just don’t grow a fetus but a completely new organ called the “placenta” that provides nourishment to the baby. Pregnancy is a phase where the mother’s body goes into a state of overdrive and has to accommodate enough nutrients to the fetus so that it is safe and healthy. A well-balanced diet supplemented with healthy prenatal vitamins can go a long way in preventing the onset of congenital disorders by a large extent.
Here’s what you can do to prevent birth defects
- Most doctors and nutritionists recommend that pregnant women add 300 calories into the daily intake of food. A majority of these should be supplied through healthy protein foods. Proteins and essential amino acids are often called as the “builder nutrient” since they are critical in forming muscle mass, organs, and a strong skeletal structure for the fetus. Protein is a macronutrient (aka a nutrient required in relatively larger quantities) and can be easily sourced through lean meat, eggs, beans, etc.
- A healthy fetus is one that is fed well with healthy dairy products. On average, there should be 3-4 servings of dairy per day. These are great sources of calcium, vitamin D, and proteins that go a long way in ensuring healthy bones and cardiac health in the fetus. Greek yogurt is considered to be an excellent source of calcium for both the mother and the baby.
- Another league of nutritious foods during pregnancy is probiotics. These foods help re-populate the gut with healthy bacteria which are indispensable to digestion and immune function. This help prevents infections to the mother during pregnancy and thus keep out the risk of the infection spreading to the womb and/pre-term labor. Foods such as kefir and kimchi are considered great probiotics.
- Though legumes and grains are usually a staple in most diets, it is important to understand that pregnant women SHOULD be consuming these daily. Legumes are a rich source of fiber, calcium, and proteins that are critical to healthy fetal development. Remember that instead of choosing refined grains, they should opt for whole grains. Whole grains contain a copious amount of proteins and fibers, not to mention essential prenatal vitamins that can significantly cut down the risk of birth defects. One such promising whole grain and a storehouse of nutrients is quinoa which is a South American grain including a wide range of nutrients required for healthy fetal growth.
- Did you know the human brain, a complex network of billions of cells, is made almost purely out of fats? Yes, the brain is roughly 60% fats and the fattiest organ in the body. Looking at the list of birth defects that can affect any fetus, a large prevalence has been witnessed among those that involve poor brain and central nervous system growth. To ensure an overall healthy fetal brain growth, the maternal diet must consist of healthy fats – in the form of omega 3 rich foods. Omega 3s contain EPA and DHA that are essential in supporting heart, brain, spine, and eye health in the developing fetus.
Essential prenatal supplements
- Folic acid: The title of “pregnancy superhero” is completely justified for this essential supplement as it is the first (and the toughest) line of defense against congenital disorders. 400 mcg of folic acid everyday cab reduce the risk of birth defects by a whopping 70%! This vitamin is required for the complete formation of the brain, skull, and spine. Folic acid deficiency can put any pregnancy at high risk of neural tube defects.
- Calcium: This essential mineral is responsible for building the baby’s heart, muscles, nerves, and blood-clotting capacity. Many congenital disorders are related to improper cardiac functioning in the baby, which can be easily averted by supplementing the mother’s diet with calcium. 50-330 mg of calcium is daily required for healthy skeletal structure in the fetus. It is also helpful in preventing osteoporosis in women post pregnancy.
- Iron: Iron is required to create RBCs, which is a growing requirement for both the fetus and the mother. It helps in providing adequate oxygen to the growing fetus. Iron deficiency is linked to anemia in the mother and blood disorders in the baby. Keep your iron intake between 27 mg to 45 mg per day. Anything beyond this range could be detrimental to both maternal and fetal health.
- Vitamin D: The average requirement of the sunshine vitamin is 400-600 IU. Deficiency of vitamin D during pregnancy can lead to gestational diabetes, pre-eclampsia, low birth weight, and preterm births.
Other essential nutrients that should be included are:
- Vitamin C: Higher immunity
- Thiamin: Brain and heart function
- Riboflavin: Vision, skin, and bone health
- Vitamin E: Averts congenital lung diseases
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