Is a blood test necessary for the gene test?
Not absolutely. Some labs can do the test with a DNA sample from a cheek swab, others will prefer blood.
FAQ Category: General Genetics Topics
What is HRAS, and what does it have to do with Costello syndrome?
The HRAS protein acts very much like an on/off switch that helps regulate a cell's growth. When HRAS is in its "active form" (on), it tells the cell to grow and divide. When it is…
When I was pregnant with my child with Costello syndrome, I had a lot of amniotic fluid. They told me it was called polyhydramnios. is this common?
Yes, polyhydramnios (excess amniotic fluid) is extremely common in pregnancies of babies with Costello syndrome. In two retrospective studies (reviewing mothers? pregnancy histories) examining pregnancy complications in women who carried babies with Costello syndrome, polyhydramnios…
How common is polyhydramnios in Costello syndrome pregnancies?
In two retrospective studies (reviewing mothers? pregnancy histories) examining pregnancy complications in women who carried babies with Costello syndrome, polyhydramnios was reported in more than 90% of women.
What else happens during pregnancy?
Other features that can be seen on prenatal ultrasound in fetuses with Costello syndrome are: macrosomia (large size) Increased nuchal (skin behind the neck) thickness Shortened long bones (short humeri and femurs) More specific clues…