Hi, My Wife 4 Brothers And 1 Sister (they Are
she is 27 years old.
2 of her brothers ( 17 and 25 years old ) are on the autism spectrum.
1. what are the chances that our children will also suffer from autism disorder?
2. is the fact that she is perfectly fine and has no symptoms of autism , means that she is certainly not a carrier of the autism genes?
3. is it possible to verify that she is a carrier or not of the autism genes?
4. is it possible to verify during the pregnancy whether the fetus will have autism or not?
thanks a lot!
Need genetic workup
Detailed Answer:
Hello XXXXXXX
Welcome to Ask A Doctor service
I have gone through your query and understand your concern. I will try to clear your queries numberwise:
1. Chance of your children being affected:
Autism is a disease with strong genetic back ground. But, this is not caused by a single genetic abnormality, rather, more than 400 abnormalities has been described. The chance of our baby getting affected depends on the exact genetic cause running in wife's family, and whether wife is a carrier or not.
In short, the chance of getting affected is more than that for general population, but we can not quote the exact percentage.
2. The fact that she is asymptomatic does not mean that she is not a carrier. Because, many such genetic abnormalities are recessively transmitted, and one can have the genetic abnormality while being asymptomatic. This is called carrier stage.
3. Yes, it is possible to identify carrier stage, but first we need to find out the genotype running in the family. Once that is found out(by doing genetic testing of an affected member), we can screen both for carrier stage and for fetus being affected(antenatal testing)
4. Can be possible, if the prototype genetic abnormality is identified.
In short, we have to consult a geneticist and proceed with genetic testing of the affected members first. This can help us to screen both the mother and the fetus, if a genetic cause is found out(occasionally the cause may not be found even after genetic testing)
Anyhow, there are few measures which we can do to reduce the chance in baby:
1. Get your wife vaccinated against Rubella. Perinatal Rubella infection increases the chance.
2. Complete the family early- Maternal age above 40 years and Fathers age above 50 years increases the risk
3. Two pregnancies should be more than 2 years apart, as a shorter interval increases the chance.
4. Maternal obesity also is an avoidable risk factor
I hope this answer will help
Let me know if I can assist you further
Wishing everything to be fine
Regards, Dr Aslam