Birth Defects: Types, Causes, Diagnosis & Prevention

by Jinal Gangar last updated -

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Birth defects affect one in every 33 babies born in the United States each year. Being the leading cause of infant deaths, it incontrovertibly becomes a fundamental duty of each parent to know more about them, why they are so common, and what can be done to prevent them from affecting babies.

What Are Birth Defects?

Birth defects, also known as congenital anomalies, are problems that occur while the baby is developing in the mother’s womb, as per the Centers for Disease Control and Prevention (CDC). They are structural or functional changes present in any part of the body when the baby is born. Birth defects can range from mild to severe. The well-being, as well as the life-span of the child, depends on the affected body part as well as the acuteness of the defect.

A happy girl suffering from a birth defect- Down syndrome

Types of Birth Defects

There are broadly two main categories of birth defects. They are:

Structural Birth Defects

A structural birth defect means there is an anomaly with the structure of a body part. Common birth defects include:

  • Cleft lip, which means there are openings in the lip and the roof of the mouth
  • Congenital heart disease, which means that there is a misshaped or a missing valve
  • Spina bifida, wherein the brain and the spinal cord face issues during their development
  • Club foot, a condition where the foot of the baby is out of shape

Functional or Developmental Birth Defects

Functional birth defects are problems that are related to the working of a particular part of the body.

  • Nervous system disorders like Down syndrome
  • Metabolic disorders like phenylketonuria
  • Problems with sensory organs like hearing and vision loss
  • Genetic disorders like Edwards’ syndrome
  • Degenerative disorders are issues that get worse as the baby grows

Causes of Birth Defects

Birth defects can occur at any stage of your pregnancy and there are many causes of birth defects like:

  • Genetics
  • Lifestyle choices like smoking and drinking alcohol
  • Health condition during pregnancy like obesity
  • Use of medications like thalidomide for the morning sickness, isotretinoin (Accutane) for acne, etc.
  • Infections like Zika virus
  • Inbreeding


A birth defect can be identified at any time before birth, at the time of birth or even after birth. Various prenatal tests, newborn screenings, and post-birth tests are used for diagnosing birth defects. Some defects like a hearing loss even take years to get noticed by the parents. Hence, knowing about the problems as early as possible can help the parents and the doctors plan the treatment properly. This makes it undeniably essential for a mother to undergo tests to check if the baby’s health requires any special attention.

What Can You Do To Prevent Birth Defects?

While the truth is that many birth defects cannot be prevented, there are safety measures that can be surely taken to keep the baby healthy while it is preparing to see the world its new eyes.

While planning the baby, make sure to get yourself checked to make sure you do the following things without fail:

  • Check for health conditions that can affect your pregnancy like diabetes, obesity, and even sexually transmitted diseases (STDs) or infections.
  • Avoid the use of alcohol, drugs, and cigarettes.
  • Consult with your doctor for all the do’s and don’ts of prenatal care.
  • Start getting your daily recommended amount of folic acid 30 days before getting pregnant.
  • Talk to your doctor and check if the ongoing medicines and supplements are safe for fetal development. Also, make sure to take your doctor’s advice before starting or stopping any medicine or changing your diet.

If there a history of birth defects in the family, you should definitely take extra care and support from your genetic counselor as well as the doctor.

Risk Factors To Avoid

Other risk factors that can lead to a birth defect are:

  • Smoking and passive smoking
  • Being pregnant an older mother (over the age of 34 years)
  • Consumption of alcohol
  • Use of illicit drugs
  • Unhealthy diet

An expectant mother should make sure to avoid these risk factors as much as possible to reduce the chances of her baby coming in with a health problem.

When Your Baby Has A Birth Defect

Living with a birth defect affects the family along with the baby. CDC has been able to help such families find support through various means. It also places emphasis on following things that parents can do to stay hopeful and positive during hard times.

  • Celebrating the birth of your child gives you a positive outlook.
  • As a parent, acknowledge your emotions of grief and talk to your loved ones.
  • Get more information on the birth defect that has affected your child.
  • Talk with families that have experienced or are experiencing the same situation as you.
  • Seeing a counselor can be instrumental as it may help you see things in a different way.
  • Connect with support groups with the help of your health care provider.
  • Seeking medical intervention as early as possible is one of the best ways to not let go of even a minute possibility of improving the outcome.

There are many national and community organizations who are also helping to treat and prevent birth defects. Protection Status
About the Author
As the content and outreach specialist at Organic Facts, Jinal Gangar is responsible for the ideation and execution of content for social media. Jinal, an ex-banker who has completed her MBA in finance from Mumbai University, is passionate about health and wellness. She has completed an online program on “Introduction to Food and Health” from Stanford University, US. On weekends you can find her in cafes or movie theaters. Positivity drives her and she finds peace in cooking, reading, and coffee!
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