Genetic ultrasound
Absent nasal bone, which belongs to the markers of Down’s syndrome and other genetic disorders
Nuchal oedema, which belongs to the markers of genetic disorders
Echogenic focus in the fetal heart, which belong to the markers of Down’s syndrome
Genetic ultrasound at 16-23 weeks
The aim of detailed genetic ultrasound at 16- 23 weeks is to look for congenital defects and markers being found more frequently in fetuses with chromosomal defects (Down’s syndrome but also Edwards’s and Patau’s syndrome and others) than in normal ones. Using the scan results you can refine the risk of Down’s syndrome established by previous testing (screening for Down’s syndrome at 12-14 weeks, biochemical screening in the second trimester, population risk and other).
During genetic ultrasound we examine for you:
- Placental position
- Amount of amniotic fluid
- All fetal organs in details including specialized fetal echocardiography
- Presence of all typical markers of genetic defects
- Fetal gender
During the scan, we will keep you informed about the parts of fetal anatomy displayed on the screen. If you wish to see the real image of your future baby, you can ask us to add a 3D-4D scan. We would be happy to include this imaging option for you.
At the end of the scan we will share with you fetal weight and describe growth on charts on the computer. We will inform you about the risk of genetic disorders and explain to you the result of the scan. In case of an abnormal finding we will discuss with you the prognosis and suggest further management. If there is an increased risk of genetic disorders you may decide to opt for invasive testing (amniocentesis), which we would be able to perform, usually on the day of your scan. If you opt for alternative methods to obtain a more accurate result, we would offer these tests to you also at our centre.
The whole examination with counselling takes around 45 minutes and you are welcome to bring your partner or someone close to accompany you through the examination. You will obtain two printed images of your baby and a detailed report with results will be sent to you by email within a week.