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Understanding Birth Defects

Causes, prevention efforts, and the ongoing search for answers

(Eric Gay, Copyright 2020 The Associated Press. All rights reserved.)

Birth defects affect millions of families worldwide each year, shaping lives long before a child takes their first breath. Ranging from mild physical differences to serious medical conditions, these disorders develop during pregnancy and can influence a child’s health, development, and quality of life. Understanding how and why birth defects occur—and the challenges faced by those living with them—is essential to improving prevention, care, and support for families.

Birth defects — also known as congenital anomalies — are structural or functional conditions present at birth that can affect almost any part of the body, including the heart, brain, or limbs. These conditions range from minor, easily treatable differences to serious abnormalities requiring lifelong care.

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About 1 in 33 babies is born with a birth defect in the United States each year, according to the Centers for Disease Control and Prevention. While not all birth defects are preventable, medical research and public health experts emphasize the importance of awareness, early care, and healthy habits before and during pregnancy to help improve outcomes for families and infants.

What causes birth defects?

The development of a baby is a highly intricate process, and disruptions at any stage — especially during the first three months of pregnancy when major organs are forming — can lead to birth defects. Although, public health authorities explain that most birth defects occur due to a complex mix of factors, and the exact cause often remains unknown, research has identified several key contributors that may increase the risk:

  • Genetic Influences: Changes or mutations in genes and chromosomes can lead to conditions such as Down syndrome or inherited metabolic disorders.
  • Maternal Health and Medical Conditions: Preexisting health issues (like diabetes that isn’t well‑controlled) and the use of certain medications during pregnancy may increase risks.
  • Lifestyle Factors: Smoking, drinking alcohol, and using illicit drugs during pregnancy are established risk factors linked to a variety of defects.
  • Environmental and Infectious Exposures: Exposure to harmful chemicals or infections such as rubella or cytomegalovirus during pregnancy has been associated with birth defects.
  • Nutritional Deficiencies: Not getting enough of vital nutrients like folic acid before and during early pregnancy has been linked specifically to neural tube defects, which affect the brain and spine.

While some factors, like genetics, are beyond a parent’s control, many risks can be managed or reduced through awareness, medical guidance, and healthy habits.

Reducing the risk of birth defects

Although not all birth defects can be prevented, many cases can be reduced through planning, medical care, and healthy habits. Public health guidance highlights several practical steps expecting parents can take:

  • Prenatal Care: Early and regular checkups with a healthcare provider allow for monitoring fetal development and managing health conditions.
  • Folic Acid Supplementation: Taking 400 micrograms (mcg) of folic acid every day before conception and in early pregnancy significantly lowers the chances of neural tube defects.
  • Healthy Lifestyle Choices: Avoiding alcohol, tobacco, and illicit drugs is strongly recommended, as these substances have been linked to serious complications.
  • Vaccinations and Infection Prevention: Staying up to date on vaccines (e.g., for rubella) and practicing good hygiene can help prevent infections that may harm fetal development.
  • Genetic Counseling: For families with a history of inherited conditions, genetic counseling can help identify risks and inform planning.

A woman’s health before pregnancy matters, and actions such as managing chronic conditions and knowing your medical history contribute to a healthier start.

Hope through awareness

Birth defects remain a significant public health challenge worldwide, contributing to infant mortality and lifelong disability for many children. Understanding the causes of birth defects, recognizing risk factors, and taking preventive steps — from prenatal care to proper nutrition — can empower parents and caregivers to support healthy pregnancies. While science may never eliminate all birth defects, informed choices and timely medical support remain the best tools societies have to reduce their impact and help every child thrive.


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