What are Birth Defects and Congenital Anomalies?
Birth defects are classified as structural birth defects or developmental birth defects. Birth defects are also known as “congenital anomalies” or “congenital abnormalities”.
- Developmental Birth defects can be very mild or severe. They affect how the body or the senses work. Some birth defects could be life-threatening, in which a baby may live for only a few months.
- Structural Birth defects are abnormal growth changes that affect the organs or a single body part of your child’s body. A healthcare provider can detect birth defects during pregnancy, after your baby is born or during your child’s life. Not all birth defects are visible.
The most common Structural birth defects are:
- Congenital heart conditions / Heart defects
- Cleft lip/palate – an abnormal gap in the upper lip.
- Spina bifida – This condition is an incomplete closing of the backbone and membranes around the spinal cord.
- Clubfoot – This condition is when the foot points inward instead of forward.
- Scoliosis – This is a type of abnormality of the spine wherein the spine bends in one direction causing loss of alignment.
- Knock knees or genu valgum – In this condition, the leg bends inward causing knock knees.
- Bow leg or Genu Varum – In this condition, the leg bends outward causing bowlegs.
- Hip dysplasia – This is a condition in which an infant’s hip joint is not formed properly. In hip dysplasia, the “ball” part of the hip joint does not fit securely into the “socket” portion.
- Deformity Correction – Deformities are injuries and diseases that affect the musculoskeletal system resulting from a congenital condition or from an injury.
The most common developmental birth defects are:
- Sickle cell disease – Sickle cell anemia is an inherited red blood cell disorder in which sufficient healthy red blood cells or Hemoglobin is not available to carry oxygen throughout your body.
- Cystic Fibrosis – Cystic Fibrosis (CF) is a genetic condition that causes severe damage to the respiratory system, digestive system and reproductive system.
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Birth defects can be a result of:
- Lifestyle choices and behaviors
- Exposure to certain medications and chemicals
- Infections during pregnancy
- Genetics
- Environmental factors
- A combination of the above factors (also known as multifactorial birth defects)
What are the risk factors for Birth Defects?
Certain factors or health conditions can put you at risk of having a child with a birth defect. These may include:
- Diabetes.
- Obesity.
- Age of a birthing parent (over 35 years).
- A genetic condition existing in your biological family history (genetic predisposition).
How are Birth Defects Diagnosed?
Some birth defects are diagnosed during pregnancy through ultrasound, amniocentesis, or chronic villus sampling (CVS). Blood test screening is done to diagnose a baby with a specific birth defect, such as Down syndrome and spina bifida. The other signs of a birth defect during pregnancy include:
- Protein levels from a blood test are higher or lower than expected.
- Extra fluid behind a fetus’ neck during an ultrasound.
- Structural abnormalities of a fetus’ internal organs, like the heart, during a fetal echocardiogram.
In some cases, a birth defect is diagnosed after birth through physical examination or a blood test that screen for several disorders in newborns. Some birth defects are visible shortly after birth. The common signs and symptoms of birth defects among infants and toddlers include the following:
- An abnormal rhythm of their heart.
- Difficulty breathing on their own.
- Not responding to their name being called or loud noises.
- Their eyes cannot follow you or an object in front of them.
- Difficulty feeding.
- Their head, face, eyes, ears or mouth have unique characteristics.
- Development delay in children.
How to Lower the Chances of having a child with a Birth Defect?
There are many steps that a woman can take to lower her chances of bearing a child with a birth defect during her pregnancy.
- Stop smoking: Infants born to mothers who smoke tend to be underweight. Additionally, exposure to secondhand smoke can harm the fetus.
- Maintain a healthy diet: Having a balanced diet before and during pregnancy is not only good for the mother’s overall health, but it is essential for providing the developing fetus with essential nutrients for growth and development.
- Maintain a healthy weight: Women who are overweight may experience medical problems such as high blood pressure and diabetes, and women who are underweight may give birth to babies with low birthweight.
- Pregnancy complications: can lead to birth defects include such as amniotic sack that holds the fetus breaks during pregnancy. This can lead to amniotic band syndrome and possible limb amputations. Additionally, when there is not enough fluid that surrounds the fetus in your uterus. This can cause pressure on the fetus and damage its lungs (pulmonary hypoplasia).
- Medical management of preexisting conditions: Treating any current or preexisting medical problems, such as diabetes or high blood pressure.
- Folic acid: Taking 400 micrograms of folic acid every day lowers the risk of neural tube defects, or birth defects of the brain and spinal cord. The vitamin is also found in some green leafy vegetables, citrus fruits, nuts, beans, and fortified breakfast cereals.
- Avoid exposure to alcohol and drugs during pregnancy: Alcohol consumption and certain drugs during pregnancy can increase the risk that an infant will be born with abnormalities. So, be sure to inform your physician of any medications and herbal supplements you are taking, since they can all have adverse effects on the developing fetus.
- Avoid exposure to harmful substances: These include pesticides, lead and radiation (i.e., x-rays), which may harm the developing fetus.
- Avoid certain foods & lower your risk of infection. Pregnant women must avoid eating undercooked meat and raw eggs and all exposure to cat feces and cat litter, which may contain a parasite, toxoplasma gondii, that causes toxoplasmosis.
- Take a vitamin daily: Begin taking a prenatal vitamin daily, prescribed by your health provider, so that your body gets all the necessary nutrients and vitamins needed to nourish a healthy baby.
- Serious Injury during pregnancy or dealing with domestic violence: Women who suffer serious injury during pregnancy and women who are abused before pregnancy increase the risk of a birth defect in an infant.
How are Birth Defects Treated?
Treatment options vary according to the health condition and level of severity. Treatment for congenital anomalies depends on the diagnosis. It usually focuses on reducing the symptoms or repairing any structural abnormalities. They may include:
- Surgery – This helps to fix certain defects or ease harmful symptoms. Many babies with heart defects will need surgery. Whereas some people with physical birth defects such as cleft lip may undergo plastic surgery.
- Medications – This is used to treat some birth defects or to lower the risk of complications from certain birth defects. In other cases, medication may be prescribed to the mother to help correct an abnormality before birth.
- Using devices like hearing aids, glasses, a brace or a wheelchair.
- Educational support in school (special education).
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