Planning a family is an exciting step and there’s a lot to think about. Reproductive Carrier Screening is recommended for anyone planning a pregnancy or already in the first trimester. For people with Ashkenazi Jewish ancestry, this is even more relevant, as there are a higher number of conditions that are more common — some of which standard testing may not cover.
Why? Because some serious (but preventable) inherited conditions are more common in this community. Let’s break it down…
What Is Reproductive Carrier Screening?
Carrier screening is a non-invasive genetic test that checks if you have a higher chance of having a baby with a serious genetic condition by looking at your and your partner’s DNA. It can test for a few conditions or several hundred.
Most people carry between 2–5 recessive genetic conditions. These genetic changes don’t usually affect your own health, but they can be passed on to your children. If both partners carry changes in the same gene, there’s a 25% (1 in 4) chance their child could be affected by that condition. Knowing this in advance empowers you to make proactive pregnancy plans, which may include prenatal testing or Preimplantation Genetic Testing (PGT) through IVF.
Members of the Jewish community have long benefited from programs that raise awareness of genetic risk factors, including school-based initiatives, and programs in Israel and the US. While many people are aware of Tay-Sachs disease, there are now a number of conditions worth screening for.
Conditions More Common in the Ashkenazi Jewish Community
Below is a list of conditions with higher carrier rates in people of Ashkenazi Jewish (AJ) descent:
| Disease | Gene | AJ Carrier Rate |
|---|---|---|
| Bloom syndrome | BLM | 1 in 134 |
| Canavan disease | ASPA | 1 in 55 |
| Cystic fibrosis | CFTR | 1 in 24 |
| Familial dysautonomia | ELP1 | 1 in 31 |
| Fanconi anaemia type C | FANCC | 1 in 99 |
| Fragile-X syndrome | FMR1 | 1 in 115 |
| Gaucher disease | GBA | 1 in 15 |
| Glycogen storage disease type I | G6PC | 1 in 64 |
| Mucolipidosis type IV | MCOLN1 | 1 in 100 |
| Niemann-Pick disease type A | SMPD1 | 1 in 115 |
| Spinal muscular atrophy | SMN1 | 1 in 40 |
| Tay-Sachs disease | HEXA | 1 in 27 |
Why Carrier Screening Matters
Reproductive carrier screening is recommended for all individuals or couples who are planning a pregnancy or are in their first trimester.
- More than 80% of people are found to be carriers of at least one condition when screened on an expanded panel (500+ conditions).
- About 2–3% of couples will have an increased chance of having a child affected by a serious genetic condition.
How Eugene Supports Families
At Eugene, our mission is to make genetic testing easy, supportive, and empowering — helping individuals and couples make proactive reproductive decisions through accessible, evidence-based screening. Every part of our service is designed to be simple and accessible.
What to Expect from Carrier Screening with Eugene
- Easy, at-home saliva collection kit
- No referral needed (but referrals welcomed)
- Expert genetic counselling to explain results
- A supportive, personalised experience
To get started with our most inclusive test, best suited for Ashkenazi Jewish families, click here.
