Congenital Anomalies

These are problems that occur in the structure/physical appearance of the baby during the development of the fetus in the womb, due to reasons such as hereditary disease, deformity in the womb, and exposure to radiation.

What is a congenital anomaly?

These are problems that occur in the structure/physical appearance of the baby during the development of the fetus in the womb, due to reasons such as hereditary disease, deformity in the womb, and exposure to radiation. While some of these may be harmless, such as the formation of a third nipple, some may develop within the heart tissue and be life-threatening.

Congenital anomalies that occur with shape or function disorders are known as malformations. For example, cleft 6th finger or lip in newborns are examples of this. While abnormal physical differences in organs such as the heart are called defects; Congenital deformities in the physical structure are called deformities.

How common are congenital anomalies?

It can be seen in an average of 3 percent to 5 percent of newborn babies. With advances in diagnostic methods, anomalies can be detected earlier.

What are the risk factors of congenital anomalies?

• Family or personal history of congenital disorders
• Disorder in siblings
• Some medications used during pregnancy
• Late age pregnancy (over 35 years of age)

The most common congenital anomalies

Diaphragmatic hernia

It is a condition in which some of the organs in the abdominal cavity enter and herniate into the chest cavity due to a defect in the diaphragm. In mild cases, a life without sequelae is possible after surgical intervention.

Congenital Cystic Adenoid Malformation

It occurs when unusual cysts are found in the lungs. The problem is diagnosed immediately after birth and can be treated surgically.

Thyroglossal cyst, Branchial cyst and sinuses

They are located in the front or sides of the neck region. They cause cosmetic problems and are detected as hard small masses on manual examination. USG is the most frequently used auxiliary examination method in diagnosis and differential evaluation. They are easily removed surgically.

Esophageal Atresia and Tracheo-Esophageal Fistulas

It is characterized by a blocked or underdeveloped esophagus. It occurs in different variations. In the majority of cases, there is also a fistula between the underdeveloped esophagus and the trachea. Approximately half of the cases are accompanied by other congenital anomalies. The diagnosis is made immediately after birth, and they should be treated without wasting time.

Anterior Abdominal Wall Anomalies

It is caused by developmental disorders of the anterior abdominal wall and primitive intestines. Babies are born with their intestines outside the abdominal cavity. It is seen in two different types, defined as omphalocele and gastroschisis. It is frequently accompanied by multiple system anomalies. There are surgical and conservative treatments depending on the type and the condition of the baby.

Small and Large Intestinal Atresias

Small intestinal atresia is the most common cause of intestinal obstruction in newborns. It has been shown that they occur as a result of vascular disorders during development. Diagnosis is made with a typical intestinal obstruction after birth. Treatment is surgery without delay.

Hirschsprung Disease / Megacolon

It is known as the absence of nerve cells in the last parts of the large intestine. It manifests itself as partial or complete intestinal obstruction. Diagnosis is made in the neonatal period or in any later period of life. 95% of normal newborn babies are diagnosed in the first 24 hours, and the remaining 5% in the second. He/she must remove meconium within 24 hours. Those who cannot remove meconium within 48 hours or who ejaculate sufficiently with assistance should be considered as Hirschsprung’s disease until proven otherwise and should be investigated accordingly. Diagnosis is made by radiological, rectal manometric study and rectal biopsy. Treatment is surgical.

Ano-Rectal Malformations

The breech is congenitally absent or closed. It is a group of anomalies with a wide spectrum. At one end of the spectrum, there are mild anomalies that require minimal surgery, and at the other end, there are very severe and complex defects. They constitute 1/4 of the digestive system anomalies that require surgical treatment in the neonatal period. Male/female ratio It is generally in favor of men. Treatment depends on the shape of the defect.

Congenital Kidney Anomalies and Uretero-Pelvic Junction Stenosis

They occur due to problems during the development of the urogenital system. Some of them are incompatible with life, and in some cases, monitoring is sufficient without any surgical intervention. Kidney structural anomalies (number, rotation, migration, fusion), parenchymal anomalies (hypoplasia, dysplasia, cystic), multicystic diseases and uretero-pelvic There may be junctional stenosis or obstruction. Some of them are diagnosed during pregnancy and during routine USG evaluation. They need to be followed closely by the Pediatric Nephrology unit. Treatment is conservative or surgical depending on the type and degree of the anomaly.

Posterior Urethral Valve

It is known as obstruction due to obstruction at the beginning of the urinary tract with the outflow of the urinary bladder. It is detected by prenatal USG or after investigating problems such as difficulty urinating and frequent urinary tract infections after birth. The treatment is surgical, and the approach is based on the age of diagnosis or the degree of kidney damage that has occurred. is planned.

hypospadias

It is popularly defined as “congenitally circumcised/half-circumcised”. There are three important elements: the urinary hole is in a lower position than it should be at the tip of the penis, the penis shaft is curved forward to a certain degree, and the foreskin is in the form of a cape on the back of the penis but is not present in the front. These children should definitely not be circumcised. Their treatment is surgical. and the ideal time is between 6-12 months.

Bladder Extrophia, Epispadias

It is an anomaly that occurs due to the failure of the reservoir-like structure of the urinary bladder to form in the womb. It is difficult to detect in the prenatal period. In male babies, the neck of the bladder and the top of the penis are open (Epispadias). The treatment is surgical and the procedure should be performed within the first 72 hours after birth without wasting time.

Indeterminate Gender

It should be a warning that the appearance of the newborn baby’s external genital structure raises doubts about whether it is a girl or a boy. It occurs as a result of deviations or structural deficiencies at various stages during the development of the baby in the womb. Chromosomal anomalies, endocrine system disorders and target organ disorders are the main topics. They should be diagnosed correctly without delay and It is essential that they be managed in a multidisciplinary manner. Only in this way is a realistic and healthy treatment possible. Treatments are often in the form of surgery and hormone support.