Genetic ultrasound – characteristics, course of examination and dates

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A genetic ultrasound is a test that pregnant women can choose to check that the baby is developing properly in their abdomen. Due to genetic ultrasound, genetic defects and diseases can be diagnosed very early. How is genetic ultrasound performed and when should it be performed?

Is genetic ultrasound safe?

Ultrasound examination is one of the safest tests performed as part of prophylaxis or diagnostics. It uses harmless ultrasonic wavesthat do not cause side effects and can be freely used in examining pregnant women and children of all ages. Also in the case of genetic ultrasound there is no risk to the fetus, but the test provides important information about its structure and allows you to assess whether it is developing properly.

How does an ultrasound machine work? A special head is placed on the surface of the skin covered with gel. The ultrasounds emitted by it are reflected at the medium boundary, and then are read by the receiver and processed into an image.

What is genetic ultrasound?

Genetic ultrasound is a very detailed imaging examination performed by a gynecologist. This test is performed in 3D and 4D technology, and the image itself is colorful and stands out with high resolution. Genetic ultrasound is used to diagnose or rule out specific diseases and malformations. The genetic ultrasound is so accurate that it can be compared with the test performed just after the baby is born. During the ultrasound examination, the gynecologist assesses the correct structure of individual parts of the child’s body, i.e. bones and sutures of the jaw, axial skeleton, arms, legs, face, eyes, ears, neck, chest, lungs, heart, stomach, intestines, liver, kidneys. , gallbladder or diaphragm.

Genetic ultrasound – indications

Genetic ultrasound can be performed by any pregnant woman, but it is especially recommended in the following cases:

  1. pregnancy after 35 years of age,
  2. genetic diseases in the families of the future mother and father,
  3. earlier birth of a sick child,
  4. genetic disease of the future mother,
  5. use of drugs during pregnancy that could affect the condition of the fetus,
  6. future mother’s contact with toxic substances,
  7. abnormal test results during pregnancy.

The test is performed when the patient receives an appropriate referral from a doctor. If the pregnant woman wants to do control genetic ultrasound on their own, they can do it privately without a referral.

  1. See also: Prenatal tests. How much do they cost and when are they refunded?

Genetic ultrasound – the course of the examination

Genetic ultrasound is a non-invasive prenatal examination performed with a transabdominal transducer. The belly skin of the future mother is lubricated with a special gel that enhances the flow of ultrasound. Then, the head is placed on the abdomen and guided depending on the position of the child. In the case of significant overweight and obesity, genetic ultrasound is performed vaginally.

During the examination, the image is observed on the monitor which is part of the ultrasound equipment. The doctor assesses the structure of the fetus and pays attention to possible abnormalities.

When to perform a genetic ultrasound?

Genetic ultrasound is usually performed between the 11th and 14th week of pregnancy. During this time, the results of most measurements are the most reliable. The first genetic ultrasound can be performed if the so-called parietal-seated length of the fetus is from 45 to 84 mm.

  1. Read also about half ultrasound – when to do, what is the preparation and course like

In the first trimester of pregnancy, other prenatal tests are also performed, which supplement the diagnosis of the health of the fetus. Non-invasive tests also include screening tests, i.e. the double test, the PAPP-A test or the Harmony test.

What does genetic ultrasound detect?

Genetic ultrasound allows you to accurately diagnose possible genetic defects, such as Down syndrome, Edwards syndrome or Turner syndrome. It also helps in detecting malformations, including neural tube defects or cleft palate. Having a genetic ultrasound after 20 weeks of pregnancy may be helpful in diagnosing a baby’s congenital heart disease. If the test is performed later, e.g. in the 27th week of pregnancy, the diagnosis of heart disease will not be possible, as the developing skeleton and lungs will obscure this muscle and interfere with the operation of the ultrasound scanner.

How much does a genetic ultrasound cost?

Genetic ultrasound is one of the four basic ultrasound tests performed during pregnancy and is reimbursed by the National Health Fund. Having a referral for this examination means that it can be performed free of charge. The cost of performing a genetic ultrasound without referral, eg in a private facility, is in the range of PLN 200-250.

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