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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Prenatal Diagnosis

What is Prenatal Diagnosis?

Prenatal diagnosis is known as the general name of the medical tests and examinations performed to determine whether a fetus or baby in the womb has a genetic disease. Such medical interventions enable early detection of potential genetic or congenital diseases, abnormalities or other health problems during pregnancy, helping parents make more informed decisions. In this article, we have compiled what you need to know about prenatal diagnosis.

What are Prenatal Screening Tests?

Prenatal diagnostic tests are usually performed on expectant mothers who are found to be at increased risk. These tests are; It is used to evaluate the chromosomes of the fetus and therefore its genetic structure. Some tests are used to detect pregnant women at increased risk for prenatal diagnostic tests.

• Double, triple and quadruple tests: The aforementioned tests are tests performed by combining the hormones secreted from the baby’s partner, called the placenta, in the blood taken from the mother, and ultrasound measurements. These tests basically screen for Down Syndrome. Pregnant women with high risk are referred to diagnostic tests.

• Extracellular DNA test (Fetal DNA Test): The main purpose of this test is to screen for Down syndrome. The chance of success is generally 99%. It is done only by taking blood from the mother. Although these tests do not have the same success rate, they also screen for many other diseases. Pregnant women who are at risk are directed to diagnostic tests.

• Detailed ultrasound: Diagnostic tests are recommended for pregnant women with anomaly detected in detailed ultrasound to determine whether there is a genetic anomaly as the cause of the detected anomaly.

What are Prenatal Diagnostic Tests?

The concept of prenatal diagnostic test defines the tests that give precise information about the disease under investigation. We can list these tests as follows:

• Amniocentesis: Amniocentesis is the process of genetic analysis by taking a sample from the fluid in the baby’s womb. It is possible to conduct genetic examination for all kinds of genetic diseases in the removed baby.

• Chorionic Villus Sampling (CVS): Chorionic villus sampling is done by taking a small tissue sample from the placenta of the baby in the womb. This tissue sample contains the baby’s genetic material and can be examined for any genetic disease.

• Cordocentesis: Cordocentesis is performed by taking a small amount of blood (usually 1-2 cc) from the baby’s umbilical cord in the later stages of pregnancy. With this test, which is performed after the 20th week of pregnancy, it is possible to diagnose various diseases. Examination of the baby’s blood is one of the most valuable methods. It enables the determination of many blood diseases and blood groups as well as genetic diseases.

All diagnostic tests should be performed by a Perinatology specialist, as they require special training and high experience.


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