Yes, Edwards syndrome, or trisomy 18, can be seen on an ultrasound. This genetic disorder is caused by an extra chromosome 18 in the baby’s cells and can be seen during the first and second trimester of pregnancy. The first indication of Edwards syndrome on an ultrasound will generally be an enlarged head, due to brain malformations. The baby's skull may have an abnormal shape, and the face may have malformations, such as a smaller than normal jaw, a small nose, and a cleft lip or palate. The baby may also have a low-lying placenta and a collection of fluid around the baby. The baby’s limbs may also be deformed, and the baby may have a short rib cage, leading to an increased risk of heart or lung defects.
In addition to physical abnormalities, Edwards syndrome can lead to serious medical complications. Babies born with Edwards syndrome often have severe mental and physical delays, as well as medical complications such as heart defects, kidney problems, and digestive problems. Many babies born with Edwards syndrome do not survive to adulthood.
If Edwards syndrome is suspected from an ultrasound, a follow-up test such as an amniocentesis or chorionic villus sampling can be done to confirm the diagnosis. A genetic counselor can provide further information and support to families affected by Edwards syndrome.