Welcome to HCM
This is Dr Amit.
In my opinion yes we can very well diagnose
Achondroplasia dwarfism by doing certain test during
pregnancy. Achondroplasia is a bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult.
During early fetal development, much of the skeleton is made up of
cartilage. Normally, most cartilage converts to bone. However, in people with dwarfism, a lot of the cartilage does not convert. This is caused by mutations in the FGFR3 gene. In more than 80 percent of cases, achondroplasia is not inherited.
Diagnosis-
1. Achondroplasia can be detected before birth by the use of prenatal
ultrasound. Some characteristics of achondroplasia are detectable during an ultrasound is
hydrocephalus or an abnormally large head and short limbs.
2. Genetic tests may be ordered. This tests look for the defective FGFR3 gene in a sample of amniotic fluid
Hope i have given satisfactory answer to your query
Regards