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Can A Genetic Test Be Performed To Determine The Chances Of Achondroplasia Dwarfism?
is it possibleo use a genetic test on the parents in order to discover if a child may have achondroplasia dwarfism? I heard that it is a dominant trait, and most individuals with this form of dwarfism don't inherit it, but rather it arrises as an error during meiosis. I still wonder if there is some way to test for it in the parents. Thanks... (I'm doing this for a grade 11 genetics project in biology)
Thu, 19 Mar 2015
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
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
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