How Does a Diagnosis Affect Family Planning?
Jewish Wolfram Syndrome is recessively inherited, meaning both parents must carry the WFS1 variant for a child to be affected.
If you test positive:
Your partner should consider carrier testing before or during family planning.
Genetic counseling is highly recommended to understand inheritance risk and reproductive options.
Prenatal and preimplantation genetic testing (PGT) are available for families who wish to avoid passing on the condition.
Genetic testing is recommended for individuals of Ashkenazi Jewish ancestry to identify carriers before starting a family.
A carrier is someone who has one copy of the genetic mutation that causes this variant of Wolfram syndrome, but does not show symptoms.
The Ashkenazi subtype of Wolfram syndrome is a recessive condition, meaning that if both parents are carriers, there is a 25% chance with each pregnancy that their child will be affected by the disorder and a 50% chance that their child will be a carrier.
This screening process is guided by genetic counselors and geneticists and provides valuable information to help assess the risk of inheriting Wolfram syndrome in growing families.
For couples that are both carriers of Wolfram Syndrome, there are other reproductive options:
Robust prenatal testing of chorionic villus sampling or amniocentesis to monitor the fetus during pregnancy.
In vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD) to select embryos that are not affected.
Using donor sperm or eggs from someone who is not a carrier.
Adoption, for families who wish to avoid the risk altogether.
An official, standardized screening program is not yet in place, but you can explore current research efforts and learn how to contribute to their development here.