Various medical tests are used to diagnose dwarfism during pregnancy and the first years of childhood or to monitor physical development of children with dwarfism. While these tests detect and observe specific signs of dwarfism, many of the following tests are commonly used to detect other conditions or health problems.

Ultrasound: Fetal Morphology and Nuchal Fold

During the first trimester, an ultrasound measures the nuchal fold, the thickness of the space behind the nape of the neck between the skin and the cervical backbone of the fetus. If this space is greater than the average 2 to 4 mm, it may indicate the presence of Down Syndrome or another genetic abnormality. This test is used more and more to assess the risk of dwarfism in the fetus. Performed at the end of the second trimester, the ultrasound examines the morphology of the fetus and evaluates the size of the different body parts to check for dwarfism.

Growth Charts

The medical professional regularly measures the child’s height and compares the results with growth charts, which have been made for the general population. By doing so, the professional is able to detect possible growth retardation or monitor the development of a child who has already been diagnosed with dwarfism.

X-Rays to Determine Bone Age

A medical professional takes x-rays of the child’s non-dominant hand and identifies the ossification points. By comparing these x-rays with standard ones corresponding to the child’s age, the specialist can determine whether or not the hand will continue to grow.

Magnetic Resonance Imaging – MRI

An MRI provides images of soft tissues: bone marrow, spinal cord and brain. Specialists can detect possible spinal cord compression and determine whether or not both types of bone marrow, red and yellow, are in correct proportion to one another. MRIs can also detect bone diseases or anomalies in bone growth and ossification.

Computerized Axial Tomography (CAT-Scan)

CAT scans show internal organs, the brain, spinal cord and bone marrow as if they were cut in thin consecutive slices. It also allows us to see swollen ventricles in the case of hydrocephalus and spinal stenosis (compression of the spinal cord).

Genetic Consulting and Testing

Genetic testing examines a person’s genes to see if that person carries the gene mutation responsible for dwarfism. These tests can diagnose dwarfism or evaluate the risks of little people who are parents (or of healthy parents who already have one child or several children with dwarfism) of having a child with dwarfism. However, although a few types of skeletal dysplasia are well known and thus easy to diagnose, other extremely rare forms of dwarfism are not as well understood by the scientific community. Therefore, in spite of a very thorough examination, using genetic testing to find an accurate answer is not always possible.