Birth Defects

Birth Defects

Birth defects are structural variations that can affect practically any area of the body (such as the heart, brain, or foot) and are evident at birth. The body’s functionality, appearance, or both may be impacted.

Birth Defects

Birth defects are irregularities in the body’s structure or functionality that can result in physical impairment, intellectual and developmental disabilities, and other health issues. This material focuses on the causes, prevention, and therapies of structural birth abnormalities, such as heart, limb, or brain deformities. The Intellectual and Developmental Disabilities (IDD) information section addresses functional/developmental birth abnormalities in further detail.

Birth Defects

The fundamental motivation for the creation of NICHD was to better understand human development across the lifetime, including birth abnormalities and the problems they may cause or result in. The Institute is a pioneer in studying birth abnormalities, their origins, how to prevent and treat them, and how they affect people’s long-term health.

The NICHD is aware that the phrase “birth defects” carries a negative connotation and that it does not accurately describe the wide range of skills and capabilities possessed by persons who are afflicted by these issues. Alternative terminology for characterising these birth issues are being discussed in communities. This page refers to certain health issues as “birth defects” until agreement is achieved.

What are birth defects?

Birth defects are unnatural growth alterations in your body that take place while you are still a foetus. Any aspect of your child’s body might be impacted by these changes. A medical professional can identify birth defects before your kid is born, after your baby is born, or later on in your child’s life. Within your child’s first year of life, most medical professionals find a birth defect. Not every birth deformity is obvious.

While certain birth abnormalities can be fatal, how they affect your child’s life depends on their specific diagnosis. While some birth abnormalities just impair a child’s look, others might have an impact on how they think, move, and behave.

Genetics and birth defects

Genetic factors account for around 20% of birth abnormalities.

Each of the 46 chromosomes found in a typical human body cell has hundreds of genes. Each gene has a blueprint that directs the growth or operation of a certain bodily component. People with either too many or too few chromosomes receive a jumbled message about how to develop and operate from their cells.

What can I expect if my child has a birth defect?

The subject of birth abnormalities may be difficult and very sensitive. It might be upsetting and frightening because there isn’t a treatment for most birth abnormalities or a means to prevent them.

Your questions may run wild if your child is given a diagnosis. There are medical professionals, genetic counsellors, and other healthcare professionals available to assist you learn more about the birth condition and how you can support your kid.

Keep in mind that birth abnormalities are widespread. The majority of reasons are arbitrary and outside your control. There isn’t a prophylactic strategy that can shield your child from all birth defects. However, some of the best presents you can offer your child are your love, support, and care.

Birth Defects

You should routinely arrange visits with your kid’s doctor if you are the parent of a child who has a birth1 defect. You should have a full conversation with their healthcare practitioner about any potential reasons, tests, treatments, and recommendations for experts and support groups. You can ask the care staff for your kid for advice if you have any queries.

Birth Defects Are Common

In the US, a newborn child is born with a birth defect every 4 1/2 minutes. This indicates that birth abnormalities impact close to 120,000 infants annually.1

Birth defects are structural variations that can affect practically any area of the body (such as the heart, brain, or foot) and are evident at birth. The body’s functionality, appearance, or both may be impacted. Mild to severe birth abnormalities are possible. Which organ or body component is involved and how much it is impacted determines the wellbeing of each kid who has a birth defect. The projected lifetime of a person with a birth defect may or may not be impacted, depending on the severity of the issue and which body component is affected.

Identifying Birth Defects

Before, during, or after birth, a birth defect might be discovered. The majority of birth defects are found within the first year of life. While certain birth anomalies, like cleft lips, are obvious, others, like heart deformities or hearing loss, require specialised testing, such x-rays, hearing tests, or echocardiograms (an ultrasound image of the heart).


Birth malformations can happen at any point in the pregnancy. In the first three months of pregnancy, when the baby’s organs are developing, the majority of birth abnormalities occur. This period of growth is crucial. Some birth abnormalities do, however, appear later in pregnancy. The tissues and organs continue to grow and develop throughout the final six months of pregnancy.

We are aware of the aetiology of several birth abnormalities, such as foetal alcohol syndrome. The majority of birth abnormalities, however, have unknown origins. Most birth abnormalities, in our opinion, are brought about by a complicated medley of causes.

These variables comprise our genes (knowledge passed down from our parents), our behaviours, and the environment. However, scientists do not completely comprehend how these elements could combine to result in birth abnormalities.

Even while we still have a lot of work to do, previous research has taught us a lot about birth abnormalities. For instance, the following factors might make it more likely to have a child with a birth defect:

  • consuming alcohol, smoking, or using certain drugs while pregnant.
  • having certain health conditions, such as obesity or uncontrolled diabetes, during and during pregnancy.
  • using certain drugs, such isotretinoin (a medicine used to treat severe acne).
  • having a family member with a birth condition. You can speak with a clinical geneticist or a genetic counsellor to find out more about your risk of giving birth to a child with a birth defect.
  • pregnancy-related illnesses such the CMV and Zika virus.
  • an increased body temperature brought on by heat exposure or a fever higher than 101oF.
  • being a mother who is older, as chromosomal abnormalities are more common with age.


Not every birth defect is preventable. However, there are a number of things a woman may do both before and during pregnancy to increase her chances of having a healthy baby:

  • Make careful to schedule routine visits with your doctor and begin prenatal treatment as soon as you suspect you could be pregnant.
  • Start taking 400 mcg of folic acid daily at least a month before trying to conceive.
  • Avoid smoking and drinking alcohol.
  • If you are taking any drugs or are considering taking any, discuss them with a healthcare professional. Medications on prescription, over-the-counter, and dietary or herbal supplements fall under this category. Without first consulting a doctor, never start or stop taking any kind of medicine.
  • learn how to avoid infections while pregnant.
  • When feeling unwell or following a vaccination, be proactive in diagnosing and treating fever. Avoid hot tubs, saunas, and other situations that might increase a temperature that is greater than 101 degrees Fahrenheit by taking Tylenol┬« (or store-brand acetaminophen) instead.

Living with a Birth Defect

Babies with birth abnormalities may require specialised care and procedures in order to live and develop normally. State birth defect tracking programmes offer one approach to find and send kids to assistance as early as feasible. For these infants to have better outcomes, early intervention is essential. Inquire with your kid’s doctor about available services and treatment options in your area if your child has a birth defect. Another resource is professionals like geneticists and genetic counsellors.

Birth Defects

What are birth defects?

A birth defect is a disorder that appears when the unborn child is developing within the mother.. The first three months of pregnancy are when most birth abnormalities occur. In the US, one in every 33 newborns is born with a birth defect.

A congenital defect may have an impact on how the body functions, appears, or both. Some birth anomalies, such as neural tube malformations and cleft lips, are structural issues that may be simple to spot. Specialised testing are used to identify others, such as heart problems. Mild to severe birth abnormalities are possible. Which organ or body part is affected and how serious the problem is both have a major role in how a birth defect impacts a child’s life.

What causes birth defects?

The aetiology of various birth abnormalities is known to researchers. However, the precise reason for a lot of birth abnormalities remains unknown. According to researchers, a complex confluence of elements, including but not limited to:

  • Genetics. It’s possible that one or more genes have a modification or mutation that stops them from functioning correctly. For instance, with Fragile X syndrome, this occurs. Different illnesses can have missing genes or genes in part.
  • Issues with the chromosomes. A chromosome or a portion of a chromosome may occasionally be absent. This is what the Turner syndrome entails. In some situations, the kid has an additional chromosome, such as with Down syndrome.
  • Exposures to drugs, chemicals, or other harmful materials. For instance, foetal alcohol spectrum disorders might result from alcohol abuse.
  • Pregnancy-related infections. For instance, Zika virus infection during pregnancy can result in a catastrophic brain damage.
  • A deficiency in some nutrients. Getting insufficient folic acid is dangerous before and during pregnancy.

How are birth defects diagnosed?

Prenatal testing enables medical professionals to identify some birth abnormalities during pregnancy. It is crucial to have frequent prenatal care for this reason.

It’s possible that further problems won’t be discovered until after the kid is delivered. They could be discovered by providers during neonatal screening. Some flaws, like a club foot, are immediately noticeable. Sometimes a problem is not identified by a doctor until the kid exhibits symptoms later in life.

What are the treatments for birth defects?

Children who have congenital abnormalities frequently require specialised care and therapies. The therapies for birth abnormalities differ because the issues and symptoms they create vary. Surgery, medications, aids, physical therapy, and speech therapy are all potential therapies.

Children with birth abnormalities may require a range of treatments and may require consultations with numerous doctors. The child’s special care requirements can be coordinated by the child’s main healthcare practitioner.

Birth Defects

How Are Birth Defects Diagnosed?

Usually, genetic testing on tiny samples of blood or saliva (spit) identifies birth abnormalities. Tests might be performed in advance of delivery, immediately following birth (like newborn screening), or at a later time.

Additionally, during pregnancy, chorionic villus sampling or amniocentesis can be used to evaluate the genetic makeup of the placenta or amniotic fluid. In vitro fertilisation (IVF) can also include genetic testing. Before being implanted in the uterus, the embryo might be evaluated.

How are inherited flaws handled?

Depending on the illness and severity degree, there are many treatment choices. Some congenital abnormalities can be fixed either before or soon after birth. However, some birth abnormalities might have a lifelong impact on a kid. Although minor flaws might be upsetting, most people’s quality of life is usually unaffected. Debilitating birth abnormalities like cerebral palsy and spina bifida can result in lifelong disabilities or even death. Consult your doctor to determine the best course of action for your child’s condition.

Medication: Medication may be used to treat or lessen the risk of consequences from various birth abnormalities. In rare circumstances, the mother may be given medicine to help treat an anomaly before delivery.

Surgery: Surgery is able to correct some flaws or lessen undesirable symptoms. Plastic surgery may be performed on certain persons with physical birth abnormalities, such as cleft lips, for either therapeutic or aesthetic reasons. Additionally, many newborns with cardiac abnormalities will require surgery.

What can be done to avoid birth defects?

Although there are some techniques to reduce the chance of giving birth to a child with a birth defect, many birth abnormalities cannot be avoided. Before conception, pregnant women should begin taking folic acid supplements. The entire pregnancy should be spent using these nutrients. Spinal and brain abnormalities can be avoided using folic acid. Taking prenatal vitamins is advised throughout pregnancy.

Alcohol, narcotics, and cigarette use should be avoided by women both during and after pregnancy. When using specific drugs, they should also exercise caution. When taken by a pregnant woman, several drugs that are often harmless can result in significant birth abnormalities. Any medications you may be taking, including over-the-counter medicines and vitamins, should be disclosed to your doctor.

Pregnancy is safe for the majority of vaccinations. In actuality, several vaccinations can aid in preventing birth abnormalities. Some live-virus vaccinations have the potential to damage an unborn child, hence they shouldn’t be administered to pregnant women. The safest and most required immunisations should be discussed with your doctor.

Retaining a healthy weight also lowers the chance of pregnancy problems. Women who already have diseases like diabetes should take extra care to control their health.

It’s crucial to show up to your prenatal visits on time. In order to find problems, your doctor may do extra prenatal screening if your pregnancy is thought to be high risk. Your doctor might be able to fix the problem before the baby is born, depending on the kind.


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