Congenital Anomalies

The heart develops during the first six weeks of pregnancy, and once formed, it begins to function. The major blood vessels connected to the heart also begin to develop during this period. Congenital heart defects result from abnormalities in heart development and can present in a wide range of forms, varying in severity. Each type of defect is defined and treated differently.
Diagnosis: Congenital heart defects are the most common type of congenital anomaly. During pregnancy, they are usually diagnosed using fetal echocardiography. Some defects cannot be detected during pregnancy and are identified only after birth, particularly when symptoms are present, such as bluish lips or nails, rapid breathing, fatigue during feeding, excessive sleepiness, and similar signs.
Treatment: Treatment depends on the type and severity of the defect and is tailored individually for each newborn. Some infants and children require monitoring only, while others may need surgery or catheterization procedures. In more complex cases, multiple surgeries and close medical follow-up may be required, and there may be long-term effects on quality of life.

Down syndrome is the most common chromosomal disorder. It is a condition in which there is an extra copy (a total of three copies) of chromosome 21. Down syndrome is often associated with additional anomalies, such as heart defects, cleft lip, 'club-foot', and others. Therefore, when a structural anomaly is suspected, it is often recommended to also assess whether the fetus may have Down syndrome.

For more information, see the article on Down syndrome.

Spina bifida is a defect in the development of the spine and the neural tube. The spinal column does not close properly, and exposure to amniotic fluid and friction within the uterus can cause damage. The severity depends on the location of the defect: the lower the location in the spine, the milder the condition, and vice versa.
Spina bifida may result in loss of bladder and bowel control, impaired bowel function and constipation, orthopedic complications such as scoliosis and limb deformities, and, in some cases, learning difficulties, reduced fertility, and skin problems. In severe cases, there may be brain involvement leading to varying degrees of developmental delay, paralysis, and lack of control over urination and defecation.

Diagnosis: Elevated maternal serum alpha-fetoprotein levels in second-trimester blood tests may indicate a defect in the development of the spine or brain, prompting further evaluation. In most cases, spina bifida can be detected by ultrasound during routine anomaly scans.

Treatment: Surgical repair is usually performed within the first 48 hours after birth to close the defect and prevent infection and further structural damage. It is important to note that damage that occurs during pregnancy cannot be reversed. Most children with spina bifida will require ongoing treatment, medical follow-up, and rehabilitative care, including orthopedic, urological, neurosurgical, and developmental support.

This condition results from incomplete development of the upper lip and the roof of the mouth.

The lips form between weeks 4 and 7 of pregnancy. A cleft lip occurs when the tissue forming the lip does not fully join, resulting in a separation or opening in the upper lip. Severity depends on the size of the cleft and whether it extends toward the nose. Children with a cleft lip may also have a cleft palate, a condition in which the tissue forming the roof of the mouth does not fully close, leaving an opening.
Cleft lip can occur without cleft palate and vice versa. These anomalies may appear together or separately and in different locations.

Diagnosis: Cleft lip is usually detected by ultrasound. Cleft palate without cleft lip is more difficult to detect before birth. If a cleft lip is identified, additional tests such as fetal echocardiography and amniocentesis may be recommended, as cleft lip is often associated with congenital heart defects and may also be linked to Down syndrome.

Treatment: Treatment depends on the severity of the condition and includes additional evaluations and follow-up (such as ENT, hearing assessment, and dental care). Surgical correction of cleft lip is typically performed before the age of one year to minimize the impact on speech and language development.