Definition

Congenital abnormalities are structural or functional abnormalities that appear during fetal development. These conditions, also known as congenital defects, congenital anomalies, or congenital malformations, occur before birth and can be detected later in life (e.g., hearing loss). In general, congenital means occurring before birth.

Congenital malformations affect approximately 6% of all babies born worldwide, resulting in hundreds of thousands of deaths. Every year, an estimated 295,000 newborns die before the age of four weeks due to congenital abnormalities and complications. Furthermore, congenital disorders kill 170,000 children aged 1 month to 5 years every year.

Many congenital disorders are socially stigmatized and discriminated against, resulting in embarrassment, isolation, and decreased community interaction. These conditions are also expensive. Long-term disabilities have a significant impact not only on the individual, but also on their family, the healthcare system, and society.

Causes

Approximately 50% of congenital abnormalities cannot be attributed to a single cause. However, known causes include single gene defects, chromosomal abnormalities, multifactorial inheritance, environmental teratogens, and micronutrient deficiency. Genetic causes can result from either inherited genes or mutations.

Risk Factor

Blood-related parents increase the risk of congenital abnormalities while also doubling the risk of newborn and young child mortality. Older maternal age increases the risk of chromosomal abnormalities like Down syndrome. Some diseases, such as the Zika virus, syphilis, and rubella, have been linked to an increased risk of congenital abnormalities. Other disorders, like cystic fibrosis and hemophilia C, are more prevalent in certain ethnic groups.

The vast majority of congenital disorders (94%) occur in low- and middle-income countries. Nine out of ten children born with severe congenital abnormalities live in low- and middle-income countries. Possible causes include a lack of prenatal screening and care, a lack of access to nutritious food for pregnant women, the use or contact with alcohol or tobacco, and increased environmental exposure to infections or contaminants.

If you want to know more about hemophilia, you can read it here: Hemophilia - Definition, Cause, Symptom, And Treatment

Symptoms

Some of the most common congenital abnormalities include:

• Cleft lip or palate
• Bone growth abnormalities leading to short stature, loss of limbs, or scoliosis
• Congenital heart defects
• Chromosomal abnormalities (Down syndrome)
• Clubfoot
• Fetal alcohol syndrome
• Sickle cell anemia

Congenital abnormalities cause symptoms that range from mild to severe and can affect almost every part of the body, including bones and organs.

During pregnancy, your doctor will examine you for signs of congenital abnormalities. Signs of congenital abnormalities during pregnancy can include

• Protein levels on blood tests are higher or lower than they should be
• Fluid buildup at the back of the fetal neck on ultrasound
• Structural abnormalities in the internal organs of the fetus, such as the heart, during a fetal echocardiogram

Some congenital abnormalities are not detected until the child is born or shortly after birth. Signs and symptoms of congenital abnormalities that commonly occur in infants and toddlers include:

• Abnormal heart rhythm
• Difficulty breathing on their own
• Not responding to being called or to noise
• Eyes do not follow objects in front of them or make contact with you
• Feeding difficulties
• head, face, eyes, ears, or mouth have distinct characteristics
• Does not achieve age-appropriate developmental milestones
• Irritable

Diagnosis

Some congenital abnormalities can be detected before birth using ultrasound, amniocentesis, or chorionic villus sampling (CVS). Most women have blood tests to determine their risk of having a baby with specific congenital abnormalities, such as Down syndrome and neural tube defects. While these screenings are not typically intended to cure congenital abnormalities, they can be used to help parents prepare emotionally and mentally for caring for a child with congenital abnormalities.

In other cases, congenital abnormalities are diagnosed after birth through a physical examination or blood tests to screen for some abnormalities in newborns.

Management

Some congenital abnormalities can be managed with medical or surgical intervention.

Well-controlled surgery can frequently reduce the risk of death (e.g., congenital heart defects) or pain (e.g., congenital talipes, cleft lip/palate) caused by structural congenital abnormalities. Early detection leads to a better outcome.

Medical treatment for certain metabolic, endocrine, and hematological conditions can improve quality of life. Congenital hypothyroidism is a clear example of how early detection and treatment can allow a healthy adult to develop fully physically and mentally. Meanwhile, a delayed diagnosis or a lack of therapy increases the risk of severe intellectual disability.

Children with certain congenital disorders may require long-term care, such as physical therapy, speech therapy, occupational therapy, and family and community support.

Complications

Some congenital abnormalities, such as cleft lip and palate, clubfoot, and hernia, can be treated surgically or nonsurgically. Others, such as heart defects, neural tube defects, and Down syndrome, can have long-term consequences or even death, depending on the body part and extent of involvement.

Congenital abnormalities can cause physical problems, intellectual disabilities, and developmental disorders. Intellectual disabilities and developmental disorders are caused by abnormalities in the brain's functioning, which cause problems or delays in physical development, learning, communication, self-care, and social interaction.

Prevention

Prevention involves reducing risk factors and increasing protective factors against congenital abnormalities. Preventive measures include:

• A healthy diet for adolescent girls and pregnant women that includes a variety of vegetables and fruits while keeping an ideal body weight
• Adolescent girls and pregnant women should have a diet rich in vitamins and minerals, particularly folic acid
• Pregnant women should avoid harmful substances such as alcohol and tobacco.
• Pregnant and childbearing women should avoid traveling to areas experiencing outbreaks of infections associated with congenital abnormalities
• Reducing or limiting exposure to hazardous substances such as heavy metals or pesticides during pregnancy
• Managing diabetes before and during pregnancy through regular checks, weight management, and a healthy diet
• Ensuring a pregnant woman's exposure to medications or radiation, such as X-rays, is discussed in terms of benefits and risks
• Vaccination, especially against rubella virus, for children and women
• Screening for infections, especially rubella, varicella and syphilis, and treatment if indicated

When to See a Doctor?

Contact your doctor if your child shows signs of congenital abnormalities. To ensure that your child's development is age-appropriate, keep a record of their milestones, such as the first time they walked. If your child is experiencing growth or developmental delays, see a doctor.

Looking for more information about other diseases? Click here!