Why is a fetal ultrasound performed?

A genetic fetal ultrasound allows the development of the whole body to be assessed. During the examination, the doctor can look at:

  • the structure and function of the major internal organs, such as the heart, brain, kidneys and stomach,
  • the development and structure of the different parts of the body – the trunk, limbs and head
  • the nuchal translucency, i.e. the distance between the skin and the subcutaneous tissue in the neck of the foetus – an abnormal result may indicate a genetic abnormality,
  • nasal bone structure – abnormal development of the nasal bone can be a sign of a genetic defect, e.g. Down’s syndrome,
  • fetal movement,
  • normal structure and function of the uterus.

What does fetal genetic ultrasound detect?

A genetic test during pregnancy aims primarily to assess the likelihood of the baby being born with a genetic defect. Genetic ultrasound can detect the most common diseases associated with a mutation in the number of chromosomes. The most common defects are:

  • Down syndrome, or trisomy of chromosome number 21,
  • Edwards syndrome, or trisomy of chromosome number 18,
  • Patau syndrome, or trisomy of chromosome number 13.

Other defects that an ultrasound in pregnancy can detect include neural tube, spina bifida or palate clefts.

Does a bad result necessarily indicate a defect?

Genetic ultrasound is a screening test, so results that suggest a risk of genetic defects are not at all a confirmation of them. Further tests, such as the SANCO test or invasive tests, need to be carried out to be sure that a mutation in the number of chromosomes is indeed occurring.

What does a genetic ultrasound look like?

Genetic ultrasound is a completely non-invasive test. During the examination, the patient is in a supine position. A special ultrasound machine uses ultrasound to read an image of the abdomen, which is then displayed in full 3D on a monitor. The examination is painless and does not involve any danger to the baby.

When to perform a genetic ultrasound?

The optimal time when the doctor is able to correctly assess the risk of fetal abnormalities is between 11.6-13+6 weeks of pregnancy. Genetic ultrasound is carried out during this period. It is also very important that the parietal and sitting length of the fetus is between 45 mm and 84 mm at this time. Therefore, the exact date of the examination should be agreed with your doctor.

Genetic ultrasound – how to prepare for the examination

Prenatal ultrasound does not require any special preparation on the part of the patient.