From the Research
Down syndrome can be detected during pregnancy using 4D antenatal imaging, which provides real-time three-dimensional images with the added dimension of time, allowing for the observation of key features such as facial abnormalities, cardiac defects, and other markers associated with the condition 1. The features of Down syndrome that can be observed in 4D antenatal imaging include:
- Facial abnormalities such as a flat facial profile, small nose with a flat nasal bridge, small ears positioned lower than normal, and excess skin at the back of the neck (nuchal fold thickening)
- Cardiac defects, particularly atrioventricular septal defects
- Shortened limbs
- Single palmar creases
- Sandal gap between the first and second toes
- Duodenal atresia which presents as a "double bubble" sign
- Increased nuchal translucency in the first trimester is a significant marker
- Hypoplasia of the nasal bone is another important indicator
- Brain abnormalities such as ventriculomegaly may also be visible These imaging findings should always be interpreted alongside other screening tests like NIPT (Non-Invasive Prenatal Testing) or diagnostic tests such as amniocentesis or CVS (Chorionic Villus Sampling) for definitive diagnosis, as ultrasound findings alone are not diagnostic 2, 1. It is essential to note that while 4D antenatal imaging can provide valuable insights into the presence of Down syndrome, it is not a definitive diagnostic tool and should be used in conjunction with other screening and diagnostic methods to ensure accurate diagnosis and appropriate management of the pregnancy and postnatal care 3, 4, 5.