What Are Birth Defects?

birth defects

Birth defects affect the growth of a baby in the womb. The newborn infant has a birth abnormality that might range from slight to severe. Almost 1 in every 33 babies in the USA only are born with these anomalies.

The birth defect might range from structural to functional. A baby’s appearance may change, or an organ may be damaged. Birth defects can also harm a baby’s mental development.

Most birth defects occur in the first trimester of pregnancy when organs are forming. Other occurs during the last 6 months when still the organs of babies are developing and growing. Some defects can be treated, while some may lead to the death of the babies.

What are the causes of birth defects?

The exact causes of birth defects are still unknown – however, they can occur due to the following reasons:

Genetic causes: Genetic causes occur when a mother or father passes on an abnormality to their children. It occurs when a gene is mutated, changed, or is missing. These types of defects cannot be prevented. In some cases, genetic defects may exist throughout the family history of one or both parents. If you have a family history of birth defects, it is ideal to talk to your doctor about any risks of defects in babies.

Exposure to chemicals: Exposure to certain toxic chemicals or high heat may also cause birth defects.

Lifestyle: The lifestyle and behavior of the mother are also responsible for abnormalities in babies. Drinking alcohol, smoking, or taking drugs during pregnancy may lead to birth defects. Obesity and certain medical conditions like diabetes may also cause defects in babies. 

Infections during pregnancy: Certain types of infections during pregnancy may cause abnormalities in babies. Viruses such as Zika and cytomegalovirus can infect a woman during pregnancy, pass on to the fetus, and cause birth defects.

Side effects of certain medications: Sometimes, women take certain medications during pregnancy. The side effects of these medications can harm the development of the baby. Like isotretinoin is a drug used to treat acne. The side effects of this medication may lead to improper baby development. It is good to ask your doctor before starting these medications during pregnancy.

A combination of any of these factors: Some birth defects can be due to a combination of one or two of the above-mentioned factors.

Risk factors

Pregnant women have the risk of developing birth defects if they have:

  • Family history of birth defects 
  • Some kind of genetic disorders in family 
  • Excessive use of drugs
  • Alcohol consumption and smoking
  • Maternal age over 35
  • Sexually transmitted infections
  • Some kind of bacterial or viral infections
  • Diabetes or some other serious medical condition
  • Use of certain medications

What are common birth defects?

Birth defects can be categorized into:

Structural: Structural defects are abnormalities of certain body parts. These body parts are either missing or deformed. Structural abnormalities include cleft palate, spina bifida, club foot, and heart defects.

Functional or Developmental: Functional and developmental defects affect the function of certain body parts. It affects the normal functioning of the body, like sickle cell disease. These defects influence the development of certain body parts or different systems.

Downs syndrome is an example of a developmental abnormality in which there is a delay in the development of the body, both mentally and physically.

Some defects are visible while some are not. A kid may have a disability for several years before developing a visible deformity.


Different birth defects can be diagnosed at the early stages of pregnancy. Your health care provider may perform a prenatal ultrasound to diagnose the defect. Other tests are performed for women having a family history of birth defects.

These tests are also offered for women having advanced maternal age or other known risk factors.

Blood test: Blood tests are performed to measure the level of different proteins and fetal DNA into the bloodstream of the mother. Abnormal results indicate the risk of abnormality in the baby.

Ultrasound: Ultrasounds look for the heart or other chromosomal defects in a baby by indicating the fluid level of the fetus. An anomaly ultrasound looks for the development of the baby, its size, and certain birth defects.

Fetal echocardiogram: In the case of high-risk pregnancies, a fetal echocardiogram is ordered to see the heart of the baby for any abnormality. Not all heart defects can be diagnosed with this test before birth.

Fetal MRI: In case of any suspected case, this test is performed to see the development of the brain and nervous system of the baby.

Amniocentesis: This test is performed to see any chromosomal abnormalities by collecting the amniotic fluid. This test is ordered for certain gene-related birth defects like Tay – Sachs disease or cystic fibrosis.

Not all defects can be detected before birth. Some are detected when a baby is born. Keep an eye on your child’s growth, and if you have any concerns about his or her health, contact your doctor right away.


Treatment varies for different types of abnormalities and their severity. Some birth defects can be diagnosed before birth, while some cannot.

Few defects may impair the children for the rest of their lives. Though it is stressful to live with a mild defect – but is possible to survive. Severe defects can cause a disability or even the death of a child like spina bifida.

If you notice any defect in your child, immediately talk to your doctor.

Medications: In a few cases, certain medications can be used to lower the risk of birth defects during pregnancy. Prenatal testing can help identify the abnormality. So it provides an opportunity to treat a certain defect with medications.

Surgery: Many defects can be fixed with help of surgeries like cleft palate or heart defects. These defects require cosmetic surgery just after the baby is born.

Special care for children with defects: Few defects cannot be treated with medications and surgeries. These children have to face this problem and grow with their disability throughout their lives. It is ideal for parents to follow the instructions of doctors while feeding, bathing, holding, and monitoring their babies with birth defects.


Many defects cannot be prevented – however, you may adopt different methods to lower the risk of birth defects.

  • If you are planning to have a baby, start taking folic acid supplements as these lower the risk of brain and spine defects. Take these supplements with the recommendation of your doctor before and during pregnancy.
  • If you take certain medications regularly, ask your doctor whether you should continue this medication during pregnancy.
  • Avoid smoking, alcohol, and other drugs before during, and after pregnancy as these may increase the risk of defects in your baby.
  • If you have a serious medical condition like diabetes talk, to your doctor. Maintain a healthy weight during pregnancy.
  • If you are pregnant, immediately contact your health care provider. Visit your doctor regularly and tell them everything about your family history of defects, or any medication or drugs you are taking.
  • A genetic counselor can also help you lower the risk of birth defects. If you are trying to conceive, or are pregnant – a genetic counselor may help you identify the possibilities of birth defects. They will ask you about your family history or may order a few tests to evaluate the genes of the baby or parents.
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