Congenital Anomalies in Pregnancy

Congenital anomalies can occur before the birth of your baby, from conception to the end of pregnancy. They include congenital malformations and chromosomal abnormalities. 

These anomalies in pregnancy are a medical emergency and should identify by you immediately. This article will tell you what congenital anomalies are? What can cause them? And much more.

What are Congenital Anomalies?

A congenital anomaly is a condition that is present from childbirth. Genetic illnesses can transmit from generation to generation or by environmental circumstances. 

Their effect on a child's health and growth isn't necessarily severe, and it might be relatively minor in some cases. A child with a congenital condition, on the other hand, may have a disability or health difficulties throughout their life.

If you're pregnant or planning a pregnancy, it's natural that you will be concerned about congenital illnesses, especially if your family has a history of one.

It’s possible to test for some congenital problems, but not all during pregnancy. You can also take treatments to lower your baby's risk of being born with a genetic condition.

What are Some of the Most Common Congenital Conditions?

Let us have a look at the following common congenital disorders: 

• Cleft palate and cleft lip: are usually discovered during routine prenatal scans.
• Congenital heart illness­: include a hole in the heart, a valve issue, or a blood vessel issue. These are frequently found via regular prenatal screenings or newborn screening.
• Cerebral palsy: Like most cases, it diagnoses in the first few years of life.
• Fragile X syndrome: might diagnose via genetic testing during pregnancy or in the initial years of life.
• Down syndrome: diagnosed using genetics during pregnancy.
• Spina bifida: analyzed during routine scans in pregnancy.
• Cystic fibrosis: interpreted during newborn baby screening.

What Causes Birth Deficiencies?

You must be thinking about how these abnormalities can occur during pregnancy? So the answer is the majority of birth abnormalities are caused by genetic or environmental elements or a mixture of the two. 

However, in vast cases, the reason remains unknown. The following is a list of genetic or inherited causes:

• Chromosomal flaws: are caused by an imbalance of chromosomes, either too few or too many, or structural issues with the chromosomes, like down syndrome and a duplicate copy of chromosome 21 and sex chromosome anomalies.
• Single gene flaws: are caused by a mutation in one gene.
• Inheritance of dominance: happens when one parent who may or may not hold the disorder departs along a single defective gene, such as achondroplasia and Marfan syndrome.
• Inheritance in a recessive manner: happens when both parents, who do not have the disease, convey the disease gene to the child, for example, cystic fibrosis and GM2 gangliosidosis.

The atmospheric cause can contain drugs, alcohol, or disease the mother holds that grows the possibility of the baby being born with a birth flaw. An agent that can generate a congenital disability is called a teratogen.

A combination of genetic and environmental factors causes complex birth abnormalities. In other words, an individual can inherit a gene that boosts sensitiveness to an environmental trigger.

What Methods Uses to Diagnose Birth Deficiencies?

It's not hard for doctors to find deficiencies in your baby. Various methods like ultrasound, amniocentesis, and chronic villus sampling (CVS) can help detect birth abnormalities before the baby is born.

Also, blood tests are used to determine whether a woman is at risk of having a baby with a particular birth problem, such as down syndrome or spina bifida.

While prenatal diagnosis does not always result in a treatment for the baby's birth problem, it can help parents mentally prepare for a child with a genetic abnormality.

In other situations, congenital disabilities will discover after the baby is born through a physical examination or a blood test that looks for various illnesses in newborns.

What are the Treatments for Congenital Anomalies?

The majority of congenital abnormalities are incurable. Treatment focuses on managing the symptoms. However, there are ways to treat specific congenital disabilities in some cases.

The focus of treatment is on symptom management. However, in rare circumstances, there are some treatments available for particular birth abnormalities, which  you can see below:

1. Therapy of Gene:

Gene therapy substitutes gene that is either misplaced or defective. SCIDs (severe combined immunodeficiency disorders) are a group of rare diseases and can cure via gene therapy.

2. Enzymes Substitution Treatment: 

Enzymes are proteins for which genes are responsible. So when a gene is mutated and does not make the gene product, an enzyme becomes missing or deficient. 

One method to treat this genetic problem is replacing the enzyme that isn't making a gene. The Gaucher disease is an example of a disorder for which enzyme replacement therapy is created.

3. Prenatal Therapy:

Some birth abnormalities are detected and treated before the child is born. For example,  prenatal surgery can cure babies with urinary tract blockages and rare lung tumors.

How can you Reduce your Chances of Having a Baby with a Congenital Disability?

I want to share some of the numerous convenient steps you can take during pregnancy to lower the chances of having a child with a congenital disability. 

You need to stay healthy before choosing to become pregnant. Since a woman usually does not know she is pregnant in the initial few weeks, which is essential for the health and growth of the baby.

1. Stop Smoking: 

You should stop smoking cigarettes. Babies born from mothers who smoke grow with lower birth weight. Also, smoke can harm the fetus.

2. Have a Healthy Diet: 

When you eat a balanced diet before and during pregnancy, it will improve your overall health and provide the growing fetus with vital nutrients.

3. Keep a Healthy Weight: 

Overweight women might experience medical issues like high blood pressure and diabetes, and underweight women might deliver babies with low birthweight. So always try to maintain a balanced weight during pregnancy.

4. Medical Cures for Preexisting Diseases: 

You should control any medical concerns, such as diabetes or high blood pressure during pregnancy.

5. Consume More Folic Acid: 

Regularly taking 400 micrograms of folic acid can help decrease the hazard of neural tube defects or childbirth flaws of the brain and spinal cord. This vitamin is available in green leafy vegetables, beans, nuts, citrus fruits, and fortified breakfast grains.

6. Avoid Openness to Alcohol and Medical Drugs: 

Having alcohol or any medical drugs is very harmful to the unborn baby. So you should tell your physicians of any medications and herbal supplements you are taking since they can all have negativee impacts on the developing fetus.

7. Bypass Exposure to Poisonous Substances: 

You should avoid getting in contact with dangerous substances like lead, pesticides, and radiation, i.e., x-rays, which can harm the developing fetus.

8. Take a Vitamins Daily: 

Begin taking a prenatal vitamin daily. You can consult with your doctor to prescribe vitamins enriched food to help your body get the necessary nutrients and vitamins vital for the baby. 

Bottom Line - 

It's natural to worry about your baby's health when pregnant—especially if you have any genetic risk factor or family member with a genetic health disorder. It can also be stressful to go through routine prenatal screenings and wait for results.

However, there are multiple treatment options and services available to help you and your baby’s congenital issue. So straight get medical help if you are facing any such condition. 

I hope this article has helped you to gain knowledge about congenital anomalies. If you have further questions, feel free to comment to us.