Understanding Birth Defects and Prevention


January is a month dedicated to increasing awareness of the many birth defects, causes of the afflictions, their impact and prevention. Birth defects are deemed those abnormal structural changes at (or before) birth that can affect almost any part or parts of the body. Defects can be mild or severe depending upon the body part affected. They can occur at any stage of pregnancy, but most defects occur in the baby’s first three months of development.

Birth defects are the leading cause of infant death affecting close to one out of every 33 babies born (approximately 120,000 children per year). The cause of most birth defects is unknown, but it is believed that the main factors are genetics, lifestyle and behavior, and toxic compounds or abnormalities in the parent’s environment. Factors that lead to a higher possibility of birth defect are obesity, drugs and medications, alcohol consumption, uncontrolled diabetes and age of mother (typically over 34 years).

Birth defects are categorized by affected structural group. Defects of the central nervous system are generally created when the neural tube forms incompletely. These include anencephaly (the skull and parts of the brain do not form), spina bifida (where part of the spine doesn’t form, causing the spinal chord to push out of the spine), and encephalocele (part of the brain protrudes through an opening in the skull). Defects of this type are usually fatal or produce severe handicap; although those with mild forms of spina bifida can live a long, fulfilled life.

The cause of most birth defects is unknown, but it is believed that the main factors are genetics, lifestyle and behavior, and toxic compounds or abnormalities in the parent’s environment.

Cardiovascular defects are characterized by malformation of the heart. Depending upon the severity of malformation, the defect can be fatal or fixed through surgery; although most with cardiovascular defects will continue to experience some hardship. Examples of cardiovascular defects include common truncus (chambers of the heart fail to form), tetralogy of Fallot (the aortic and pulmonary valve are mis-sized), atrioventricular septal defect (holes exist between the left and right chambers of the heart), and hypoplastic left heart syndrome (the left side of the heart fails to form properly).

Other systems affected by defects are musculoskeletal (which includes limb malformation, cleft lip and/or palate, and hernias), and gastrointestinal (which includes esophageal atresia and intestinal atresia). Chromosomal anomalies are also recognized as birth defects and occur when the body develops with extra chromosomes. The most common is trisomy 21, also known as Down Syndrome. Those with Down Syndrome are born with an extra copy of chromosome 21, causing musculoskeletal and mild to severe mental abnormalities. Other examples of chromosomal defects are Patau Syndrome and Edwards’ Syndrome (both are typically fatal within the first year of life).

If you are an aspiring mother, there are certain precautions you can take to better your chances of a healthy baby. These are:

  1. Take 400mcg (micrograms) of folic acid every day. Folic acid has been shown to greatly reduce the chances of a child developing a central nervous system defect. Aspiring mothers should start taking folic acid at least one month before pregnancy and continue the supplement throughout the pregnancy.
  2. Talk to your doctor before starting or stopping any medications. Both over-the-counter and prescription medications may increase the chances of a birth defect. Consulting with your doctor before you become pregnant can help create a health treatment plan for yourself and your baby.
  3. Become current on all vaccines. Illness including the flu and whooping cough can increase the chances of a birth defect, especially if the illness causes fever. Over-heating your baby correlates with increased chance of birth defect.
  4. Try to achieve a healthy weight before becoming pregnant. Obesity or being drastically underweight can increase the chances of a birth defect occurring. If you are struggling with diabetes, gain control before becoming pregnant and maintain control throughout the pregnancy. Begin to eat properly and find time to exercise – your baby will be healthier for it.
  5. Avoid harmful substances during pregnancy. These substances include tobacco, illicit drugs and alcohol. There is no safe amount of alcohol that you can consume while pregnant. Smoking during pregnancy can increase the chances of cardiovascular (and other) birth defects. If you are having problems with addiction and become pregnant, please seek a health professional and counselor as soon as possible. Other substances to avoid while pregnant are high-mercury or under-cooked fish, caffeine, raw meat and raw eggs, processed junk foods, kitty litter and more. Please speak with your health professional when pregnant for a comprehensive list.

The majority of birth defects can be detected before birth through the use of screenings such as ultrasound and amniocentesis; therefore, it is vitally important that parents regularly see the doctor during a pregnancy.



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