Congenital Malformations

March 9, 2023
Janelle Thomas MSN, RN
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Having a child with a congenital malformation can have a life-changing impact on your family, regardless of the type or severity. In any situation, it’s important to learn as much as possible about your child’s diagnosis and understand the treatment and care options available.

This guide will provide a clear overview of congenital malformations, also called birth defects, so that you can make the best possible care decisions for your little one and family.

What are congenital malformations?

Also called congenital anomalies, congenital disorders, or birth defects, congenital malformations refer to structural or functional problems that develop while a baby is still in the womb. According to the World Health Organization (WHO), approximately 6% of babies born worldwide have some form of congenital malformation.

A congenital malformation can occur anywhere on the body or internal organs and can cause severe dysfunction and minor difficulties. Some of the most common types of congenital malformations include:

What causes congenital malformations?

In many cases, the cause of a congenital malformation is not identifiable or understood.

In some children, a congenital malformation can be due to an inherited trait, such as a defective gene or missing chromosome. In other situations, environmental causes such as a nutritional deficiency or certain medications may be the cause. Birth defects can also occur due to a combination of environmental and inherited factors.

Preventing Birth Defects

While there is no way to entirely eliminate the risk of a congenital malformation, there are several steps that anyone can take to help prevent birth defects from developing in the womb. This includes:

  • Practicing a healthy lifestyle that includes good nutrition, regular activity, and maintaining a healthy weight
  • Getting the correct levels of essential vitamins and nutrients, particularly folic acid, which can help limit the risk of neural tube defects
  • Avoiding tobacco products, drugs, and alcohol, particularly during pregnancy
  • Avoiding exposure to dangerous substances and chemicals, such as pesticides, lead, and radiation
  • Avoiding eating undercooked or raw meat and avoiding contact with cat litter and cat feces to limit the risk of infections
  • Being aware of and managing conditions such as diabetes and high blood pressure

It is also essential for pregnant women to limit stress and potentially dangerous situations as much as possible to help promote healthy fetal development.

Preconception Examinations for Congenital Malformations

Preconception examinations such as genetic testing and infection screening can help couples looking to conceive better understand their potential risk for developing certain congenital malformations. Many choose these screenings to make more informed family planning decisions and gauge the possible likelihood of certain birth defects.

In general, there is no way to predict or confirm a specific defect until after conception. Still, many families find this information helpful and valuable, particularly for helping to plan for the healthiest possible pregnancy.

Diagnosing Congenital Malformations and Birth Defects

Congenital malformations are often diagnosed during pregnancy, sometimes as early as the first trimester. Diagnostic steps include:

  • Prenatal ultrasound, which can visibly identify certain issues
  • Blood testing
  • Amniocentesis

In other situations, congenital malformations are diagnosed sometime after birth, either through identification of visible issues or the development of symptoms which are later diagnosed through physical examination and diagnostic testing. Some congenital malformations may not be identified until later in life, either due to the development of complications or from identification during diagnosis of another condition.

Treatment Options for Congenital Malformations

Treatment options for congenital malformations can vary widely depending on the specific type of defect, the severity of symptoms, and the individual child. In most cases, congenital malformations are not curable, with treatment focusing on managing symptoms and improving function. Options may include:

  • Surgery to fix a blockage, remove a growth, or bypass a defective artery
  • Gene therapy to replace or repair a missing or defective gene, which has been attempted successfully for some rare diseases
  • Prescription medications
  • Physical therapy, occupational therapy, and rehabilitation to help children with defects learn specific skills and overcome disabilities
  • Prosthetics and aides to help with physical mobility and daily tasks

Caring for a Child with Congenital Malformations

Children who have been diagnosed with a congenital malformation very often require ongoing care. This can include surgeries, recurring appointments, and tests to ensure the body is functioning as well as possible. Many children with birth defects also need to modify daily activities and require specialized feeding and prescription medications.

Families can take a range of steps to help children with these diagnoses adapt to the long-term needs of their condition and enjoy a healthy, happy, and active childhood. This can include support groups and counseling to help manage the behavioral and emotional needs that children with congenital malformations may have.

Families often find it challenging to balance these extensive care needs with busy schedules and the needs of other children and family members. Pediatric home health care services can be a highly beneficial form of support in these situations.

A highly trained and caring home health professional can help children with congenital birth defects get the attention they deserve. Services can be personalized for a wide range of conditions and needs, including assisting with medication and nutrition, accompanying children to appointments, and providing respite care for much-needed personal time.

Contact Care Options for Kids for Home Health Care

It can be hard to balance your time between work, home, and caring for a child. That’s why our team of professionals at Care Options for Kids is here to help. We have been enforcing precautionary measures and following the Centers For Disease Control (CDC) guidelines for COVID-19 to ensure the safety and health of our clients and employees.

Our home health care services offer one-on-one support in the comfort of your home. We refer loving and competent nurses to provide customized care for families — from a few hours a day to around-the-clock supervision. Contact us directly to speak with a home health care professional or request a free in-home assessment. Together we can determine the best plan of action to keep your loved ones happy and healthy.

If you or a loved one are considering pediatric home health care services, contact the caring staff at Care Options for Kids. Call today at (888) 592-5855.