Nuchal Translucency Screening

What is nuchal translucency screening? When is it performed? What are the implications of the results?

What is Nuchal Translucency Screening?

During fetal development, between weeks 9 to 14 of pregnancy, fluid accumulates beneath the fetal skin, between the skin and the soft tissues below it, particularly in the area of the neck and nape. The accumulation of this fluid is characteristic of all fetuses and is considered normal. This fluid is lymphatic, and in a normal fetus, it gets absorbed into the body around weeks 15-16 of pregnancy.

What does the screening check for?

Nuchal translucency screening is an ultrasound examination. During this examination, the size of the fetus (the distance between the head and the tailbone, known as CRL) is measured, along with the thickness (in millimeters) of the translucent area in the fetal neck, which reflects the amount of fluid accumulated there (referred to as "nuchal translucency").

In cases where fluid accumulation is abnormal (meaning excess fluid is found, called subcutaneous edema in the fetal neck), there is an increased risk of chromosomal abnormalities (such as Down syndrome), anatomical abnormalities (such as severe heart defects), and rare genetic disorders in the fetus.

There is a direct correlation between the thickness of the fluid in the neck region and the likelihood of the fetus having chromosomal abnormalities, including Down syndrome, as well as other structural abnormalities like heart defects and major blood vessel abnormalities. Therefore, nuchal translucency screening can detect women at increased risk of giving birth to infants with such conditions.

This underscores the significant role of nuchal translucency screening in assessing the risk, and it is the responsibility of the performing specialist.
A nuchal translucency measurement of 3 millimeters and above is considered abnormally high.

What is the Meaning of the Result?

There is a direct correlation between the thickness of the fluid in the fetal neck and the risk of the fetus having chromosomal abnormalities. There are tables available that convert the result of nuchal translucency screening (along with maternal age and gestational age) into the statistical likelihood of the fetus having such a condition.
The size of the fetus, in combination with the thickness of the translucent area and maternal age and gestational age, is input into special software that calculates the statistical likelihood of the fetus having certain chromosomal abnormalities (in genes), including Down syndrome, as well as other heart and major vessel abnormalities. The sensitivity reported for this test, meaning the ability of the test results to predict an abnormal pregnancy, is around 50-70%.

Advantages of Nuchal Translucency Screening:

Nuchal translucency measurement is a simple, non-invasive test that does not pose a risk to the pregnancy.
Its early performance allows for early detection of the risk of Down syndrome.

Early detection enables:

Chorionic villus sampling (CVS) testing - performed in the early stages of pregnancy (weeks 16-17).
Early amniocentesis testing (weeks 10-12) without waiting for CVS results.
Detection of additional abnormalities (additional heart defects and anatomical abnormalities) in the early stages of pregnancy.

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