Frequently Asked Questions
Roughly 1 in 40 Ashkenazi Jews are carriers of the BRCA genetic mutation, which increases the risk of breast and ovarian cancer. Though this increased risk is genetically transmitted, BRCA is not typically included among the disorders included in the standard testing panels for Jewish genetic diseases. Individuals with a family history of breast or ovarian cancer are encouraged to consider separate testing for the BRCA mutations.
I am going through IVF and have been recommended PGS (preimplantation genetic screening), is it necessary?
Preimplantation Genetic Screening (PGS) is commonly offered when a patient’s is undergoing in vitro fertilisation (IVF) treatment. The test identifies common chromosomal abnormalities in the embryos. Severe abnormalities will not be compatible with life and therefore this test improves pregnancy success rates and reduce miscarriages. It is important to consult with a genetic counsellor.
Non-Invasive Prenatal Test (NIPT) is an early prenatal screen for Down syndrome and other common chromosomal conditions such as trisomy 13 and 18. The test only involves a simple blood draw from the pregnant mother and can be undertaken from 10 weeks’ gestational age. We know that a baby’s DNA circulates in the mothers blood. This test is a SCREENING test- it is not diagnostic. This means that it may or may not indicate there is a concern, much like an ultrasound. It is recommended that an amniocentesis is done if there is a positive NIPT.
I have already had children who are healthy and we still plan to have more. Surely I don’t need to be tested?
Unfortunately there is a misconception that because you have healthy children, neither parent is a carrier for the same condition. Ashkenazi conditions follow an autosomal recessive inheritance pattern. This means both mother and father need to be a carrier for the same condition. If they are, with EACH pregnancy- there is a 25% chance of having an affected child, 25% unaffected and 50% carrier. Carriers are asymptomatic and it will not affect them
Yes, although the chance of being a carrier is slightly smaller. You still have one parent who is Ashkenazi Jewish. We know that 1 in 6 people is a carrier for one of the 9 common conditions. This means that there is a chance you are a carrier and that you can have an affected child. If both parents are Sephardic- some conditions still need to be tested for as they are more common. This is dependent on the country of origin.