Want to learn about birth defects? Don't be afraid, let's talk about it!

When you are expecting to become a mother, or when you are expecting a new member to join your family, the greatest wish in your mind is a healthy baby. But sometimes, unexpectedly, the baby can be born with some changes in its development. This is what we call “ Birth Defects”. It is normal to feel a little scared and sad when you hear this word. But don’t worry. It is very important to have a proper understanding of this. Today, we will talk about this in detail and very simply.

What is a birth defect?

Simply put, a birth defect is an abnormal development that occurs during fetal development. These changes can affect any part of the baby's body. Some birth defects can be detected by doctors during pregnancy . Others can be detected after the baby is born or when the baby is a little older. Most of the time, these conditions are detected within the first year of a baby's life. However, it is important to remember that not all birth defects are visible on the outside .

While some birth defects can be life-threatening, not all are. The way they affect a child depends on the condition being diagnosed. Some birth defects may only change the way a child looks. But others can affect the way a child thinks, moves, and performs daily tasks.

What are the most common birth defects?

These are some of the most common birth defects:

• Cleft lip and/or cleft palate.
• Abnormalities in bone development, such as short stature , loss of limbs, or scoliosis.
• Congenital heart conditions.
• Chromosome abnormalities – An example is a condition called Down syndrome .
• Clubfoot .
• Conditions caused by the mother's use of alcohol during pregnancy (Fetal alcohol syndrome).
• Sickle cell anemia.

This list is not complete, there may be many other birth defects like this.

How common are birth defects?

In fact, birth defects are not as rare as you might think. For example, according to statistics in the United States, a baby is born with a birth defect every four and a half minutes. That means that about one in every 33 babies born may have some kind of birth defect. This suggests that this is a fairly common condition.

Is it correct to use the term "congenital disorder"?

“Birth defect” is a medically correct term. It is used to describe changes in the structure of the body during the embryonic stage. Therefore, there is nothing wrong with calling a condition a “birth defect.”

But, most importantly, don't call someone with a birth defect "disabled" or "disabled." Their physical differences don't define who they are. It's important to avoid using hurtful, negative language when talking about birth defects, or people with birth defects.

If you have difficulty using the word "birth defect," you can use other words like these:

• Congenital abnormalities – that is, abnormalities that are present at birth.
• Congenital conditions.
• Physical malformations.

What are the symptoms of birth defects?

Symptoms of birth defects can range from mild to severe. They can affect any part of the body, including the bones and internal organs.

Symptoms seen during pregnancy

During pregnancy, doctors use various screening tests to check for signs of birth defects. Symptoms that may appear at this time include:

• Protein levels in a blood test that are lower or higher than expected.
• An ultrasound examination shows that there is extra fluid behind the fetus's neck.
• A scan that examines the fetal heart (fetal echocardiogram) shows abnormalities in the structure of internal organs, such as the heart.

Symptoms seen after the baby is born

Some birth defects are not apparent until the baby is born, or only a few days after birth. Common symptoms seen in infants and toddlers include:

• An abnormal rhythm of the heartbeat.
• Difficulty breathing alone.
• Not responding to being called by name or loud noises.
• Not following yourself or an object in front of you with your eyes.
• Difficulty eating and drinking milk.
• Having a specific, unusual appearance in the head, face, eyes, ears, and mouth.
• Failure to reach age-appropriate developmental milestones (e.g., not rolling over or sitting up).
• Constant restlessness and irritability.

This is not a complete list.If you notice anything strange or different about your child, or if you see any of these symptoms, see your child's doctor immediately.

What are the causes of birth defects?

There can be several reasons for birth defects. The main ones are:

• Genetic changes.
• As a side effect of some medications.
• Exposure to certain substances or chemicals.
• Pregnancy complications.

All of these factors affect the development of the fetus. Most of the time, these are things beyond our control, so there is very little we can do to prevent them.

A little about the stages of fetal development

There are two main stages of development for a baby after it is conceived in the womb.

1. Embryo stage: This is the first 10 weeks after conception. This is when the baby's major body systems and organs begin to form. The risk of birth defects is highest during this embryonic stage, as the organs are still developing. For example, if the mother is exposed to a harmful substance between two and ten weeks after conception, it can cause serious harm to the fetus.

2. Fetal stage: This is the remainder of the pregnancy. During this period, the developing organs continue to develop and the fetus generally grows.

According to medical science, the causes of only about 30% of birth defects are currently known. That means that for about 70%, a clear cause has not been found. Perhaps between 50% and 70% of birth defects are just random, and the cause is unknown.

Genetic Factors and Birth Defects

About 20% of birth defects are caused by genetic factors. Our body cells have chromosomes, usually 46. Each chromosome contains thousands of genes. Each gene contains the plan for a certain part of our body to grow or function. If someone has too many or too few chromosomes, the message that the cells receive is confused.

Changes in chromosomes can occur in the following ways:

• Having an extra chromosome: An example is Down syndrome. People with this condition have an extra copy of chromosome 21.
• Chromosomal deficiency: Turner syndrome is a condition in which a person is born without part or all of the X sex chromosome.
• Deleted chromosomes: An example is Prader-Willi syndrome, where a portion of the genetic information on chromosome 15 is missing.
• Relocated chromosomes / Translocation: Chromosomes moving from their normal location to a different location.

Some birth defects are inherited.That means that someone in the family may have it and it may also occur in the child. Others occur sporadically, meaning that no one in the family has had it before.

Some medications and birth defects

Some medications can affect the developing fetus and cause birth defects. Some examples:

• Isotretinoin (an acne medication – Accutane® or Roaccutane®)
• Some medications given for fits (Antiepileptic medications), e.g. valproic acid
• Lithium
• Warfarin (a medicine that prevents blood clotting)

If you are planning to become pregnant or are already pregnant, talk to your doctor about all medications, vitamins, and supplements you are taking. Also ask about the side effects of any medications your doctor prescribes. Do not stop taking any medications without your doctor's approval.

Because of some substances and chemicals

Some substances and chemicals in our environment can affect the development of the fetus and cause birth defects.

• Alcohol.
• Addictive substances – e.g. caffeine (if taken in excess), over-the-counter medications, narcotics.
• Pesticides or herbicides.
• Environmental pollution.

In some parts of the world, birth defects were common due to the use of dangerous pesticides and herbicides. An example of this is the herbicide Agent Orange used during the Vietnam War.

Due to complications during pregnancy

Birth defects can also occur due to certain complications during pregnancy. These are often things beyond the parents' control, so when things like this happen, it can be very painful.

Examples:

• Uterine constraint: The amniotic sac that contains the fetus ruptures during pregnancy. This can cause conditions like amniotic band syndrome, which can damage limbs.
• Lack of amniotic fluid: Insufficient amount of fluid around the fetus in the uterus. This can put pressure on the fetus and cause lung damage (pulmonary hypoplasia).
• Infection: Some infections, such as toxoplasmosis and cytomegalovirus, can affect the developing fetus.

To avoid these complications, talk to a doctor about ways to keep yourself and your developing fetus healthy during pregnancy.

What are the risk factors that increase the risk of birth defects?

Certain factors or health conditions may increase the risk of having a child with a birth defect.

• Diabetes.
• Obesity.
• Mother's age (over 35 years).
• Having a genetic predisposition in someone in the family.
• Substance-use disorder.
• Taking certain medications.

If you have a condition like this, your doctor can help you manage it. They can also do tests to assess your risk of developing a genetic disease.

How are birth defects diagnosed?

A doctor can diagnose a birth defect during pregnancy, after the baby is born, or later in life when symptoms appear. Tests confirm the diagnosis.

Screening Tests During Pregnancy

During pregnancy, you may choose to have screening tests for birth defects and genetic conditions. These may be ultrasounds or blood tests. If a screening test shows any abnormalities, your doctor may recommend a diagnostic test.

First-trimester tests: Check the fetus for heart abnormalities and chromosomal conditions like Down syndrome.

• Blood screen: Measures protein levels or circulating free fetal DNA in the mother's blood. Abnormal results may indicate an increased risk of a chromosomal condition in the fetus.
• Ultrasound: This checks for extra fluid behind the fetus's neck. This could be a sign of heart disease or a chromosomal condition.

Second-trimester tests: Check for structural problems in the fetus.

• Serum screen: Blood tests done in the second trimester can screen for chromosomal conditions and/or conditions like spina bifida.
• Anomaly ultrasound: This checks the size of the fetus and also checks for birth defects.

Diagnostic Tests

If the results of a previous test are abnormal, the doctor may suggest further tests. These tests are also done in high-risk pregnancies.

• Fetal echocardiogram: This is an ultrasound scan that specifically looks at the fetal heart. However, it cannot detect all heart conditions before birth.
• Fetal MRI: This examines the fetus's brain or nervous system.
• Chorionic villus sampling (CVS): This test takes a very small piece of the placenta and tests it for chromosomal or genetic conditions.
• Amniocentesis: A small amount of amniotic fluid is removed. The cells in it are tested for chromosomal abnormalities and genetic changes. It can also detect some infections, such as cytomegalovirus (CMV).

Some birth defects are only diagnosed by doctors after the baby is born. Some conditions, such as cleft lip, can be diagnosed at birth. Others are diagnosed during childhood or adulthood.Be attentive to your baby's health, and tell your child's doctor if you notice any symptoms.

What are the treatments for birth defects?

Treatment depends on the diagnosed condition. Treatment is usually aimed at reducing symptoms or correcting structural abnormalities. These may include:

• Surgery.
• Medications.
• Physical therapy.
• Using devices such as hearing aids, glasses, braces, and wheelchairs.
• Educational support at school (special education).

Can birth defects be completely cured?

In general, there is no cure for birth defects, especially genetic conditions. Treatment can help reduce a child's symptoms and, if symptoms are severe, reduce the risk of life-threatening complications.

Can birth defects be prevented? What should you do to have a healthy pregnancy?

Many birth defects cannot be prevented. However, there are some things you can do to ensure a healthy pregnancy:

• See your doctor regularly. If you are trying to get pregnant, or if you are sexually active and not using birth control, take a prenatal vitamin that contains 400 mcg of folic acid.
• If you think you are pregnant, see a doctor immediately.
• Don't drink alcohol.
• Talk to your doctor about the medications and supplements you take.
• Do not take any medication that has not been prescribed by a doctor.

What should I think if my child has a birth defect?

Birth defects are a complex and sensitive issue. The fact that there is no cure or prevention for many birth defects can be frustrating and frightening.

If you are diagnosed with a birth defect, you may have many questions. Doctors, specialists, and genetic counselors can help you understand more about the birth defect and how to help your child.

Remember, birth defects are common. Many causes are beyond your control, and they happen randomly. There is no way to prevent your child from every birth defect. But you can love your child, advocate for them, and take care of them. That is the greatest gift you can give them.

If you are the parent of a child with a birth defect, see your child's doctor regularly. You and the doctor should talk carefully about possible causes, tests, treatments, referrals to specialists, and support groups. If you have any questions, ask your child's care team for help.

When should I see a doctor?

If your baby shows any signs of a birth defect, see a doctor.In particular, pay attention to your child's developmental milestones. For example, when they take their first steps, and whether they are doing things that are appropriate for their age. If your child is missing any milestones, see your doctor.

When do you need to go to the Emergency Treatment Unit (ETU) ?

Go to the emergency room if your child shows these severe symptoms:

• Difficulty breathing.
• Skin turning blue, pale, or gray.
• Yellowing of the whites of the eyes or yellowing of the skin.
• An abnormal heartbeat.
• Difficulty waking up.
• Not eating/not drinking milk.

Questions to ask your doctor

• What caused my child's birth defect?
• Do I need to have a cesarean section?
• What treatment options are available to help my child?
• Are there any side effects of the treatment?
• What symptoms should I look out for?
• Can you recommend support groups that help families?

Are dimples a birth defect?

No, dimples are not a birth defect. Dimples are small, deep depressions that appear on your cheeks when you smile. Although they can be hereditary, they are not considered a developmental abnormality.

Finally, things to remember (Take-Home Message)

One of the hardest things an expectant parent can hear is that there is something wrong with their fetus or newborn. While many birth defects cannot be prevented, there are steps you can take before and during pregnancy to reduce the risk of birth defects.

Remember, you are not alone. Your doctors understand the challenges of raising a child with a birth defect. They will share information with you about tests, medications, and other ways to help your child reach his or her full potential. Your love, care, and advocacy are the most valuable things a child can receive.