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Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • ACH
  • Achondroplastic dwarfism
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Your Question

Is prenatal diagnosis available for achondroplasia?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is prenatal diagnosis available for achondroplasia?

Yes, prenatal diagnosis is available for achondroplasia. If one or both parents have achondroplasia, then testing can be performed during the first or second trimester. In these pregnancies, fetal DNA is obtained by amniocentesis (usually performed at about 15-18 weeks gestation) or chorionic villus sampling (CVS) (at about 10-12 weeks gestation). Genetic testing is performed on the fetal DNA to look for a mutation in the FGFR3 gene known to cause achondropasia. It is generally preferred that the parent with achondroplasia have genetic testing first before prenatal testing is performed.[1]

About 80 percent of people with achondroplasia have average-size parents; these cases result from new mutations in the FGFR3 gene. Routine prenatal ultrasounds may identify short fetal limbs around 27 or 28 weeks gestation and raise the possibility that the fetus could have achondroplasia.[2] A 3D ultrasound may be used to look for other features of achondroplasia. To confirm the diagnosis, fetal DNA can be obtained by amniocentesis and analyzed for FGFR3 mutations.[1]

If you are interested in pursuing prenatal diagnosis for achondroplasia, you should discuss your options with a health care provider or a genetic counselor.

Last updated: 2/20/2013

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013

  • Francomano CA. Achondroplasia. GeneReviews. January 2006; Accessed 8/4/2011.
  • Twinning P, McHugo JM, Pilling DW. Textbook of Fetal Abnormalities. London: Churchill Livingstone; 2002;