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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What are the genetic screening tests performed during pregnancy?

What are the genetic screening tests performed during pregnancy?

Screening tests performed during pregnancy are tests that try to determine whether the baby in the womb is at high risk for the disease being screened for. Screening tests are not definitive tests, that is, they do not provide a diagnosis. Screening tests select only pregnant women at risk and provide them with more successful tests.

In this article, we have compiled what you need to know about genetic screening tests performed during pregnancy.

To whom are genetic screening tests applied?

Genetic screening tests are specialized by country and are generally determined by ministries of health.

Tests frequently applied in our country are summarized below.

• Combined test, scientifically known as double test

• Triple Test

• Quadruple test

• Fetal DNA test (NIPT)

• SMA (Spinal Muscular Atrophy) carrier test

• Thalassemia carrier test

What is Dual Test or Combined Test and how is it done?

The main purpose is a screening test for Down Syndrome. The dual test, as the name suggests, consists of two parts. Firstly, if possible, an ultrasound is performed by a perinatologist and the baby’s organs are examined. During this time, three important measurements are made. The baby’s size, i.e. head-to-rump distance (CRL), nasal bone (NBL) and nuchal translucency (NT) are measured. Many more parameters are examined in this detailed ultrasound performed at 11-14 weeks, but only these are used in the double test.

In the second part, blood is taken from the expectant mother and two parameters are measured (PAPPA and BHCG). A result is obtained by adding the mother’s age to these. This result determines the unborn baby’s risk of Down syndrome.

The dual test is a test with 85% detection success for Down syndrome. Double test is performed when the CRL of the fetus is between 48-84 mm.

What is the triple test and how is it done?

The purpose of the test is to screen for Down Syndrome. It is performed in cases where the double test cannot be performed or is missed. Ideally, it is done between 15 and 19 weeks. It can be done up to the 22nd week. It is done by taking blood only from the pregnant woman in the weeks defined above. Three parameters are checked in this blood: AFP, HCG and E3. The success rate of this test in screening for Down Syndrome is approximately 70%.

What is the quadruple test and how is it done?

The purpose of the test is to screen for Down Syndrome. It is performed in cases where the double test cannot be performed or is missed. Ideally, it is done between 15 and 19 weeks. It can be done up to the 22nd week. It is done by taking blood only from the pregnant woman in the weeks defined above. Four parameters are checked in this blood: AFP, HCG, E3 and Inhibin A. The success rate of this test in screening for Down Syndrome is approximately 75%.

What are the genetic screening tests performed during pregnancy?

Screening tests performed during pregnancy are tests that try to determine whether the baby in the womb is at high risk for the disease being screened for. Screening tests are not definitive tests, that is, they do not provide a diagnosis. Screening tests select only pregnant women at risk and provide them with more successful tests.

In this article, we have compiled what you need to know about genetic screening tests performed during pregnancy.

To whom are genetic screening tests applied?

Genetic screening tests are specialized by country and are generally determined by ministries of health.

Tests frequently applied in our country are summarized below.

• Combined test, scientifically known as double test

• Triple Test

• Quadruple test

• Fetal DNA test (NIPT)

• SMA (Spinal Muscular Atrophy) carrier test

• Thalassemia carrier test

What is Dual Test or Combined Test and how is it done?

The main purpose is a screening test for Down Syndrome. The dual test, as the name suggests, consists of two parts. Firstly, if possible, an ultrasound is performed by a perinatologist and the baby’s organs are examined. During this time, three important measurements are made. The baby’s size, i.e. head-to-rump distance (CRL), nasal bone (NBL) and nuchal translucency (NT) are measured. Many more parameters are examined in this detailed ultrasound performed at 11-14 weeks, but only these are used in the double test.

In the second part, blood is taken from the expectant mother and two parameters are measured (PAPPA and BHCG). A result is obtained by adding the mother’s age to these. This result determines the unborn baby’s risk of Down syndrome.

The dual test is a test with 85% detection success for Down syndrome. Double test is performed when the CRL of the fetus is between 48-84 mm.

What is the triple test and how is it done?

The purpose of the test is to screen for Down Syndrome. It is performed in cases where the double test cannot be performed or is missed. Ideally, it is done between 15 and 19 weeks. It can be done up to the 22nd week. It is done by taking blood only from the pregnant woman in the weeks defined above. Three parameters are checked in this blood: AFP, HCG and E3. The success rate of this test in screening for Down Syndrome is approximately 70%.

What is the quadruple test and how is it done?

The purpose of the test is to screen for Down Syndrome. It is performed in cases where the double test cannot be performed or is missed. Ideally, it is done between 15 and 19 weeks. It can be done up to the 22nd week. It is done by taking blood only from the pregnant woman in the weeks defined above. Four parameters are checked in this blood: AFP, HCG, E3 and Inhibin A. The success rate of this test in screening for Down Syndrome is approximately 75%.

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