Genetic ultrasound

Genetic ultrasound – when to perform?

A genetic ultrasound is otherwise known as a first trimester ultrasound. Its name is due to the fact that the main focus of the study is, among other things. On detecting possible genetic defects. The ultrasound is performed between 11. a 14. week of pregnancy. Genetic ultrasound is among the mandatory ultrasound examinations performed during pregnancy, in addition to the mid-term (2nd trimester) ultrasound, the 3rd trimester ultrasound. trimester and an ultrasound at the time of delivery.

First trimester ultrasound should not be abandoned in favor of the increasingly popular free fetal DNA tests. According to current recommendations, NIPTs are recommended in cases of suspected genetic defects or intermediate risk in a composite test. Genetic ultrasound plays a very important role in diagnosis in early pregnancy.

Genetic ultrasound – what does it evaluate?

In a genetic ultrasound, the gynecologist assesses the location of the pregnancy, its viability, fetal anatomy and calculates the risk of chromosomal aberrations, as well as preeclampsia in what is known as a “genetic ultrasound. A composite test (which includes biochemistry in addition to ultrasound). The gestational age is also assessed on the basis of the parietal and sitting dimensions. If the calculated due date differs by 7 days or more from that of the last menstrual period, it becomes the leading date until the end of the pregnancy. It should not be modified in subsequent ultrasounds.

An important part of genetic ultrasound is the evaluation of nuchal translucency. An abnormal image can be associated with diseases such as Down Syndrome. To make the risk estimation more accurate, in addition to nuchal translucency, the mother’s medical history and blood parameters such as free beta-hCG, PAPP-A and PlGF should be taken into account.

Genetic ultrasound on NFZ

The compound test is reimbursed for a specific group of women. The prerequisites for prenatal diagnosis on the National Health Fund include:

• Mother’s age over 35
• The occurrence of a chromosomal aberration in a previous pregnancy
• The occurrence of chromosomal aberrations in the mother or father
• Abnormalities on ultrasound or biochemical tests

In other situations, first trimester ultrasound is also reimbursed, but does not include additional biochemical tests.

Read more: PAPP- A test – its new application