Diagnosis and Testing
If a mother is a carrier of Aarskog syndrome, is there testing that can be performed during the pregnancy to see if her baby is affected?
If a mother is a known carrier of or affected by Aarskog syndrome and has a known FGD1 gene mutation, genetic testing can be performed during the pregnancy. Chorionic villus sampling (CVS) and amniocentesis are both available. CVS involves removing a piece of the placenta and sending the sample to a laboratory for genetic testing. CVS can be performed around 10-12 weeks of gestation. Amniocentesis involves taking a sample of amniotic fluid and sending it to the laboratory for genetic testing. This testing can be performed starting at 15 weeks of gestation. Testing involves looking for the specific FGD1 gene mutation found in the mother. To note, clinical features cannot be predicted before birth. Because both CVS and amniocentesis are invasive, there is a small risk for miscarriage. If one is interested in this prenatal diagnostic testing, they can speak with a reproductive genetic counselor in their area. Genetic counselors can be found on the National Society of Genetic Counselors website.