Definition

Fetal anomalies are structural or functional abnormalities that occur during pregnancy. They can also be referred to as congenital abnormalities or birth defects. These conditions develop in utero and are usually identified before or at birth, but they can also be diagnosed during a specific year of life. It is estimated that 6% of babies worldwide are born with anomalies, leading to hundreds of thousands of deaths related to fetal abnormalities. Some fetal anomalies can be managed with surgical or non-surgical treatment options, such as cleft lip, hernias, and clubfoot. Others, like heart defects, neural tube defects, and Down syndrome, can have long-term impacts on life.

Read about heart disorders in children here: Congenital Heart Disease - Definition, Cause, Symptom, And Treatment

Fetal anomalies are one of the global diseases that WHO pays attention to, especially in low and middle-income countries. On average, in these countries there are also inadequate facilities to treat fetal abnormalities, thereby increasing morbidity and death rates for fetuses and newborns.

Causes

There are several causes of fetal anomalies, including genetic factors, socioeconomic factors, environmental factors, and unknown causes, which will be discussed further below:

• Genetic Factors

Some cases of fetal anomalies are caused by genetic abnormalities, such as chromosomal defects formed early in pregnancy. Examples include trisomy 21, also known as Down syndrome, or genetic disorders like cystic fibrosis.

Consanguinity, or the blood relationship between two parents, raises the risk of infant and child death, intellectual disability, and other disorders in addition to increasing the incidence of genetic fetal abnormalities.

• Socioeconomic and Demographic Factors

Low-income countries and regions contribute indirectly to the incidence of fetal anomalies. It is estimated that 94% of fetal anomalies occur in low- and middle-income countries. This is related to the lack of access to nutritious food for pregnant women, exposure to factors such as alcohol and infections, and inadequate health facilities and screenings. The mother’s age is also a risk factor, with those over 35 years old being at higher risk for chromosomal abnormalities and Down syndrome.

• Environmental Factors (Including Infections)

Other factors arise from the environment, such as infections in the mother like syphilis or rubella, exposure to radiation, certain pollutants, nutritional deficiencies in the mother (e.g., iodine, folic acid), maternal diseases like gestational diabetes, or certain medications like alcohol and phenytoin.

• Unknown Causes

Besides the interaction between genetic and environmental factors, fetal anomalies can also be caused by unknown factors, such as congenital heart defects, cleft lip, and clubfoot.

Risk Factor

As mentioned earlier, there are many risk factors associated with fetal anomalies, including:

• Nutritional deficiencies, such as lack of folic acid
• Maternal age over 35 or under 18 years
• Maternal diseases, such as diabetes and thyroid disorders
• Infectious diseases like syphilis or rubella
• Alcohol and drug abuse
• Obesity
• Smoking
• Use of certain medications without medical supervision
• Environmental pollution
• Low socioeconomic status
• Genetic factors and consanguinity

Symptoms

Fetal anomalies can be detected during pregnancy, but the symptoms of each anomaly will differ due to the wide variety of conditions. Pregnant women may not experience specific symptoms, but they should be cautious if they have the following symptoms:

• Fever
• Excessive vomiting
• Shortness of breath
• High blood pressure
• Obesity
• Gestational diabetes

If you experience these symptoms, consult a doctor, as many fetal anomalies can be detected through ultrasound examinations.

Diagnosis

The diagnosis of fetal anomalies can be performed through medical interviews between the patient and doctor, physical examinations, and additional tests.

• Medical Interviews: The doctor may ask about the patient’s complaints during pregnancy, previous pregnancy history, daily activities, lifestyle, work, medication history, and family medical history.
• Physical Examination: The doctor will examine the general condition of the patient, including blood pressure, respiratory rate, body temperature, and pulse. They will also perform a pregnancy examination, measuring the distance from the pubic bone to the top of the abdomen, palpating the abdomen to assess the baby’s position, and, if necessary, examining the vagina.
• Additional Examination: The doctor will perform an ultrasound to assess the baby’s position, estimate its current weight, and detect any structural or functional abnormalities. If specific concerns arise, further tests like blood or uri

Management

Some fetal disorders can be treated with medical or surgical treatment. This will depend on the available health facilities. Surgery therapy can reduce pain, especially in cases of congenital heart disorders, cleft lip, and several structural disorders or anatomical disorders.

As for some fetal disorders, especially chromodynamic disorders, there is no special therapy that can be done to cure these conditions. Treatment will be in the form of supportive or as support so that children can grow and develop without obstacles.

Complications

Complications from fetal anomalies vary, ranging from developmental delays to death in severe cases.

Prevention

Preventing fetal anomalies requires cooperation from all parties, including health ministries, governments, and communities. Important efforts include:

• Ensuring that adolescent girls and pregnant women receive adequate nutrition, including fruits and vegetables, and maintain a normal body mass index.
• Ensuring the intake of vitamins and minerals for adolescent girls and pregnant women.
• Encouraging pregnant women to avoid harmful substances such as alcohol and cigarettes.
• Avoiding travel to areas with certain endemic diseases, especially for pregnant women, to reduce the risk of infection.
• Reducing or eliminating exposure to environmental pollutants and pesticides during pregnancy.
• Managing diabetes before and during pregnancy, using insulin if necessary.
• Ensuring that pregnant women are not exposed to excessive radiation, considering the benefits and risks of such exposure.
• Promoting vaccination, particularly against rubella, for both mothers and children.
• Increasing awareness and prevention of fetal anomalies among healthcare providers and the public.
• Conducting screenings for infectious diseases when planning pregnancy and ensuring regular prenatal check-ups during pregnancy.

When to See a Doctor?

It is important to visit the doctor regularly during pregnancy. Prenatal check-ups should be conducted at least three times during pregnancy: once in the first trimester, once in the second trimester, and twice in the third trimester. Follow the advice of your doctor or midwife to reduce the risk of fetal anomalies.

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