Prof. Dr. Ali EKİZ

Prof. Dr. Ali EKİZ

Gynecology and Perinatology (Risky Pregnancy) Specialist

With over 15 years of professional experience, dozens of national and international research articles, and most importantly, his smiling face, Gynecology and Perinatology Specialist Prof. Dr. Ali EKİZ is with you.

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Fetal Anomalies

What Are Fetal Anomalies? How Is It Treated?

Fetal anomalies are structural or functional disorders that occur in a developing fetus during pregnancy. These anomalies; It can be caused by genetic factors, environmental influences or combinations. Fetal anomalies usually occur in the early stages of pregnancy. However, some may appear in later periods. In this article, we have compiled what you need to know about fetal anomalies.

Which Organs Do Fetal Anomalies Affect?

Fetal anomalies can affect various organs and systems. Among them; There are many structures such as the heart, brain, spine, kidneys, lungs, digestive system, musculoskeletal system and reproductive organs. The degree of anomaly can vary, some may be mild, while others may be more serious and life-threatening.

What are Fetal Anomalies?

We can list some examples of fetal anomalies as follows:

• Cardiovascular system anomalies: Anomalies such as holes in the heart wall (ventricular septal defect, atrial septal defect), abnormalities in heart valves (aortic stenosis, pulmonary stenosis), and major major vessel anomalies (Conotruncal anomalies) can be given as examples.

• Central nervous system anomalies: Spina bifida is the most common. It can be exemplified by ventriculomegaly, hydrocephalus, brain tumors and cerebral hemorrhages affecting the brain. Anomalies such as diastometamyelia and hemivertebrae that affect the bones of the spine can be seen.

• Anomalies of the digestive system: Esophageal atresia (not developing the esophagus correctly), anorectal malformations (abnormal development of the rectum and rectum), gastrosciasis (failure to develop organs in the abdomen).

• Urinary system anomalies: Enlargement of the kidneys, urinary bladder anomalies and urinary bladder outflow tract stenosis can be counted.

How Are Fetal Anomalies Detected?

Fetal anomalies can be detected with routine pregnancy ultrasounds or advanced screening tests. The most important step in the diagnosis of anomalies is the Detailed Ultrasound performed by the Perinatology specialist. When diagnosed, treatment options and outcomes vary depending on the severity of the anomaly and gestational week. In some cases, medical intervention or surgery may be required. In other cases, postpartum treatment and care can be planned. Every pregnant woman should be examined by a perinatologist at least twice.

Fetal Anomali Açısından Riskli Gruplar Hangileridir?


Fetal anomalilerin oluşma riski pek çok faktöre bağlıdır. Fetal anomali risk gruplarından bazılarını aşağıdaki gibi sıralayabiliriz:

  • Genetik faktörler: Ailede genetik geçiş gösteren hastalıklara karşı taşıyıcılık olması ve özellikle birinci derece akraba evliliği olması gibi faktörler sayılabilir.
  • Anne adayının yaşı: Anne yaşının ilerlemesi, fetüsün anomalilerle karşılaşma riskini artırır. Özellikle anne 35 yaşın üzerinde ise Down sendromu riskini arttırır.
  • Anne adayının sağlığı: Anne tarafından kullanılan bazı ilaçlar, alkol tüketimi, sigara – uyuşturucu kullanımı ve bazı enfeksiyonlar (örneğin; kızamıkçık, sitomegalovirüs) fetal anomalilerin riskini artırabilir.
  • Önceki gebeliklerde fetal anomaliler: Daha önceki gebeliklerde fetal anomaliler yaşanmışsa, bu gelecek gebeliklerde de anomalilerin oluşma riskini artırabilir. Örneğin bir kez spina bifidalı bebek sahibi olmak sonraki gebelikte riski yaklaşık % 4 e çıkarır.
  • Çevresel faktörler: Anne tarafından maruz kalınan bazı çevresel etkenler fetal anomalilerin riskini artırabilir. Örnek olarak radyasyon, bazı kimyasallar verilebilir.
  • Gebelik süreci: Erken dönemdeki gebelik kayıpları, plasenta problemleri, gebelik diyabeti ya da gebenin aşırı kilolu olması gibi durumlar fetal anomalilere yol açabilen risk faktörlerini oluşturur.

Altı çizilecek konu ise her ne kadar birçok risk faktörü belirlenmiş olsa da anomalilerin büyük çoğunluğu düşük riskli grupta meydana gelir. Bu nedenle tüm gebeleri Perinatoloji uzmanı tarafından anomali taraması yapılması gerekmektedir. 

How Is Fetal Anomalies Treated?

Treatment of fetal anomalies; It may vary depending on the type, severity, gestational week and other factors of the anomaly. We can list some of the methods used in the treatment of fetal anomaly as follows:

• Special management for controlled birth: A special follow-up and planned delivery is carried out during pregnancy in order to prepare for interventions after delivery for some fetal anomalies. For example; In the case of Great Artery Transposition, which is a fetal heart anomaly, the baby must be operated immediately after birth. Although he is a baby who can continue his normal life with a successful operation, it is not possible for him to survive if he cannot be operated on.

• Surgical intervention: In some cases, surgical intervention for fetal anomaly can be performed during pregnancy. You can read about these surgeries performed in the womb in much more detail in the fetal surgery section.

• Treatment with medication in the womb: The baby’s heart rhythm can be corrected by giving anti-arrhythmic drugs to the mother for some heart rhythm disorders in the mother’s womb.

The treatment approach should include providing counseling and support to the family while aiming to maximize the fetus’ quality of life and chance of survival. The treatment plan and expectations for each condition vary depending on the progress of the pregnancy, the condition of the baby, and other factors. The coordination and control of all treatments should be done by the Perinatology Specialist.

MAKE YOUR APPOINTMENT WITH PROF. DR. ALİ EKİZ!

You can make your appointment with Perinatology (Risky Pregnancy) Specialist Prof. Dr. Ali Ekiz via the WhatsApp button.

Other Fetal Surgery Topics

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