medical helvetica,sans-serif; font-size: 1em; background-color: #92d2dd; border: medium solid #333333; text-align: center;">Having another child is possible with the control of prenatal diagnosis.
Enlarge the family?
Having a child with Ataxia Telangiectasia does not mean parents have to give up enlarging the family. We saw in the articleTransmission there are 3 chances in 4 that the baby to come does not develop AT. Modern methods of medicine can verify it before birth.
How to check?
In the context of genetic counseling, a prenatal diagnosis of ataxia telangiectasia can be proposed. This is feasible when the genetic mutation is known. Indeed, there is no sonographic signs of whether the unborn baby will be affected by ataxia telangiectasia.
This antenatal diagnosis can be made at different times of pregnancy:
- from the third month of pregnancy: by a trophoblast biopsy (which will become the placenta)
- from the 16th week of pregnancy: by puncture of amniotic liquid (amniocentesis)
- from the 23rd week of pregnancy: by puncture of fetal blood
The gesture is usually done on a one-day hospitalization under general anesthesia, but this should be discussed with the gynecologist.
All these actions must be performed in a experienced gynecologic center given the risk of miscarriage induced. It is however low (1 to 1000) if compared to the risk of having another child with ataxia telangiectasia (1 of 4). Another less obvious risk is the psychologic: the relatively high probability of having an embryo suffering from ataxia telangiectasia (1 of 4) leads to the same probability of abortion, with sometimes significant psychological consequences. It is better to be prepared.
Preimplantation Genetic Diagnosis
It is also possible to consider a preimplantation genetic diagnosis, that is to say to select an embryo that is free of ATM gene mutations. This is to be discussed during the genetic counseling. Collaborating Centres of CEREDIH Network can help you in this process.