Congenital Anomalies

Congenital anomalies are issues that arise in the structure or physical appearance of a baby due to factors such as hereditary diseases, malformations in the womb, or exposure to radiation during fetal development.

What is a Congenital Anomaly?

Congenital anomalies refer to problems that occur in the structure or physical appearance of a baby during the development process in the womb due to reasons such as hereditary diseases, malformations in the womb, or exposure to radiation. Some of these anomalies may be harmless, like the formation of an extra nipple, while others can develop within heart tissue and pose a life-threatening risk.

Congenital anomalies that manifest as shape or functional disorders are known as malformations. For example, having a sixth finger or a cleft lip in newborns are examples of this. Abnormal physical differences in organs such as the heart are referred to as defects, while congenital shape abnormalities in the physical structure are termed deformities.

How Common are Congenital Anomalies?

What are the Risk Factors for Congenital Anomalies?

• A family or personal history of congenital disorders
• The presence of disorders in siblings
• Certain medications taken during pregnancy
• Advanced maternal age (over 35 years)

Most Common Congenital Anomalies

Diaphragmatic Hernia
This condition occurs when a portion of the organs in the abdominal cavity enters the chest cavity due to a defect in the diaphragm, resulting in herniation. In cases that progress mildly, it is possible to lead a life without complications after surgical intervention.

Congenital Cystic Adenoid Malformation
This condition arises from the presence of unusual cysts in the lungs. The diagnosis is made immediately after birth and can be treated surgically.

Thyroglossal Cyst, Branchial Cysts, and Sinuses
These conditions are located in the front or sides of the neck. They can cause cosmetic issues and are detected as hard, small masses upon physical examination. Ultrasound (USG) is the most commonly used auxiliary examination method for diagnosis and differential evaluation. They can be easily removed surgically.

Esophageal Atresia and Tracheoesophageal Fistulas
This condition is characterized by a blocked or underdeveloped esophagus. It can present in different variations. In the vast majority of cases, there is also a fistula between the underdeveloped esophagus and the trachea. Approximately half of the cases are accompanied by additional congenital anomalies. Diagnosis should be made immediately after birth, and treatment must be initiated without delay.

Abdominal Anterior Wall Anomalies

These anomalies arise from developmental disorders of the abdominal anterior wall and primitive intestines. Babies are born with their intestines outside the abdominal cavity. They are classified into two types: omphalocele and gastroschisis. Multiple system anomalies often accompany these conditions. Depending on the type and the baby's condition, there are surgical and conservative treatment options available.

Intestinal Atresias (Small and Large)
Small bowel atresias are the most common cause of intestinal obstruction in newborns. They have been shown to result from vascular disorders during development. Diagnosis is made postnatally with typical signs of intestinal obstruction. Treatment is surgical and should be performed without delay.

Hirschsprung Disease / Megacolon
This condition is characterized by the absence of nerve cells in the distal parts of the colon. It presents as partial or complete bowel obstruction. Diagnosis can be made during the neonatal period or at any later stage of life. Ninety-five percent of normal newborns will pass meconium within the first 24 hours, and the remaining 5% will do so within the second 24 hours. If meconium is not passed within 48 hours or if the baby is unable to empty their bowels with assistance, they should be considered as possibly having Hirschsprung disease until proven otherwise, and further investigation should be conducted. Diagnosis is made through radiological examination, rectal manometry, and rectal biopsy. The treatment is surgical.

Ano-Rectal Malformations
This condition refers to the congenital absence or closure of the anus. It is a broad spectrum of anomalies. At one end of the spectrum are mild anomalies requiring minimal surgery, while at the other end are severe and complex defects. They account for one-quarter of all gastrointestinal anomalies requiring surgical intervention in the neonatal period. The male-to-female ratio is generally in favor of males. Treatment depends on the shape of the defect.

Congenital Kidney Anomalies and Ureteropelvic Junction Narrowing

These anomalies arise due to issues during the development of the urogenital system. Some are incompatible with life, while in others, monitoring may be sufficient without any surgical intervention. Structural anomalies related to the kidneys (number, rotation, migration, fusion), parenchymal anomalies (hypoplasia, dysplasia, cystic), multicystic diseases, and ureteropelvic junction narrowing or obstructions can occur. Some are diagnosed during pregnancy, during routine ultrasound evaluations. They need to be closely monitored in collaboration with the pediatric nephrology unit. Treatment is either conservative or surgical, depending on the type and severity of the anomaly.

Posterior Urethral Valve
This condition is known as obstruction due to a membrane at the exit of the bladder and the initial part of the urinary tract. It is detected through prenatal ultrasound or after birth when investigating issues such as difficulty urinating or recurrent urinary tract infections. Treatment is surgical, and the approach is planned based on the age of diagnosis or the degree of kidney damage that has occurred.

Hypospadias
This condition is commonly described with expressions like "congenitally circumcised/semi-circumcised." It has three significant components: the urinary opening being located lower than normal at the tip of the penis, a certain degree of curvature of the penile shaft towards the front, and the absence of foreskin at the front, despite the foreskin being present as a "cape" on the dorsal side of the penis. Children with this condition should not undergo circumcision. Treatment is surgical, and the ideal time for surgery is between 6 to 12 months of age.

Bladder Exstrophy, Epispadias
This anomaly arises due to the failure to form the reservoir structure of the bladder during fetal development. It is difficult to detect during the prenatal period. In male infants, the neck of the bladder and the upper part of the penis are also exposed (epispadias). Treatment is surgical, and intervention should be performed within the first 72 hours after birth without delay.

Ambiguous Genitalia

Suspicion about the appearance of a newborn's external genitalia being male or female should be a cause for concern. This condition arises due to deviations or structural deficiencies at various stages of development in the womb. Chromosomal anomalies, endocrine system disorders, and target organ disorders are the main categories. It is essential that they receive an accurate diagnosis without delay and are managed in a multidisciplinary manner. Only then can realistic and healthy treatment be possible. Treatment often involves surgery and hormonal support