Starting a family is one of life's most meaningful decisions. For Jewish families, particularly those with Ashkenazi ancestry, that journey should include an important first step: genetic carrier screening. Because of the elevated carrier rates for more than a dozen inherited conditions in the Jewish community, understanding your genetic status before or during pregnancy isn't just a medical formality. It is a powerful act of planning, of love, and of informed preparation for everything that comes next.

It’s important to know that approximately 1 in 4 Ashkenazi Jews carries a mutation for at least one Jewish genetic disease,¹ and 80% of affected children are born to parents with no known family history of that condition.² Screening before pregnancy gives you the most time to take all family planning options into consideration.

This guide takes you from the very beginning (understanding why screening matters for Jewish families), all the way through to your reproductive options if you and your partner are both carriers for the same condition. Whether you are considering dating, newly engaged, actively trying to conceive, already pregnant, or planning to expand your family, this roadmap is designed to help you move forward with clarity and confidence.

What's in This Guide

• Step 1: Understanding Why Jewish Families Should Be Screened
• Step 2: Who Should Get Tested — and When
• Step 3: What the Screening Process Looks Like
• Step 4: Understanding Your Results
• Step 5: Your Options If Both Partners Are Carriers
• Step 6: Prenatal Testing During Pregnancy
• The Role of Genetic Counseling at Every Stage
• Frequently Asked Questions

Step 1: Understanding Why Jewish Families Should Screen

Jewish genetic diseases are a group of inherited conditions that occur at significantly higher rates in people of Jewish descent, particularly those with Ashkenazi (Eastern European) ancestry, compared to the general population.³  This is the result of a well-documented historical phenomenon called the founder effect: the entire modern Ashkenazi Jewish population descends from a relatively small group of founders, and specific gene mutations became concentrated over time.

The carrier rates for some of these conditions are striking. Approximately 1 in 30 Ashkenazi Jews carries the Tay-Sachs gene mutation.³ About 1 in 10 to 1 in 15 is a carrier for Gaucher disease, the most common Jewish genetic disorder.¹ For cystic fibrosis, the carrier rate is approximately 1 in 24 to 1 in 27 among Ashkenazi Jews.¹ Across all conditions combined, roughly 1 in 4 Ashkenazi Jews carries at least one mutation.³

It’s important to note that carriers are generally healthy individuals. They live normal lives and usually have no idea they carry a mutation.⁴ However, when both partners carry the same mutation, there is a 25% chance of an having affected child with any given pregnancy.¹ And because 80% of affected children are born to parents with no known family history of the condition,² waiting for a family health event to prompt screening means waiting too long. Carrier screening programs work. The incidence of Tay-Sachs disease in the Ashkenazi Jewish community has been reduced by more than 90% since the 1970s³ as a direct result of community-wide preconception screening programs.

Step 2: Who Should Get Tested — and When

Guidelines from the American College of Obstetricians and Gynecologists (ACOG) recommend that expanded carrier screening be offered to all individuals considering pregnancy, regardless of ancestry.^5,6 For those with Jewish ancestry, screening is especially important.

You should pursue carrier screening if:

• You or your partner has any Ashkenazi Jewish ancestry — even one Jewish grandparent warrants screening.⁵
• You or your partner has Sephardic or Mizrahi Jewish ancestry, as elevated carrier rates for certain conditions also exist in these populations, though the specific mutations differ.³
• You are an interfaith couple; if one partner is Jewish, both should be screened. If the Jewish partner tests positive for a condition, the non-Jewish partner should be tested for that specific condition.⁶
• You are using donor eggs or sperm, as donor screening alone may not cover every condition on a comprehensive expanded panel.⁸
• You have a personal or family history of any known genetic condition, Jewish or otherwise.⁴

The Best Time to Screen: Before Pregnancy

Preconception screening, screening before you become pregnant, is strongly recommended by ACOG, ACMG, and the National Society of Genetic Counselors (NSGC) because it gives you the most time to understand your results and explore the full range of reproductive options.^4,5 When both partners know their carrier status before conception, they can plan accordingly with the least emotional and logistical pressure.

That said, carrier screening can also be done early in pregnancy. If you are already pregnant and have not been screened, it is not too late. While preconception screening is ideal, screening during pregnancy remains highly valuable as it provides essential information for immediate medical management, allowing families to pursue definitive prenatal diagnosis, make critical decisions, and, if needed, coordinate specialized care.⁹

Step 3: What the Screening Process Looks Like

Genetic carrier screening is simple, non-invasive, and can be done from home. Through jscreen's at-home reproductive carrier screen, the process works as follows:

1. Order your kit at jscreen.org — no doctor's appointment needed. Complete a brief health questionnaire during registration.
2. Receive your saliva collection kit in the mail within 7–10 business days.
3. Collect your saliva sample at home.
4. Mail your sample using the prepaid envelope.
5. Receive your results within just a few weeks, reviewed with a certified genetic counselor via telehealth — included with every jscreen test at no additional charge.

Wondering about cost? Many major insurance plans cover the cost of carrier screening. For those without coverage or with high deductibles, self-pay options and financial assistance programs are available.

Both Partners Should Screen

Carrier screening is most useful when both reproductive partners are tested. If only one partner screens and tests positive, the other partner should also be tested as soon as possible.⁵ jscreen's process makes dual testing easy; both partners can order kits and screen at the same time.

About the Expanded Panel

jscreen's reproductive carrier screen tests for 200+ conditions across all ethnicities — not just Jewish genetic diseases. This matters because expanded carrier screening (ECS) catches conditions that ethnicity-based panels miss.

Step 4: Understanding Your Results

If you choose to test with jscreen, when your results arrive a certified genetic counselor will review them with you in a telehealth session included with your test. Understanding what your results mean is essential to taking the right next steps.

Negative Result

A negative result means no mutations were detected on the panel. For most Ashkenazi Jewish conditions, detection rates are 95% or higher, making a negative result highly reassuring.¹ A negative result does not guarantee you are not a carrier for all possible variants, as no panel detects 100%, but it significantly reduces risk.

Positive (Carrier) Result

A positive result means you carry one mutation in a gene associated with a recessive condition. Remember, carriers are healthy and are not expected to develop the condition themselves.⁴ Carrier status matters most for reproductive planning. If both you and your partner are carriers for the same condition, each pregnancy carries a 25% chance of an affected child, a 50% chance of your child being an unaffected carrier, and a 25% chance of a non-carrier unaffected child.⁴

If you test positive, your genetic counselor will arrange testing for your partner right away. The results of both partners together determine what options and next steps make sense for your family.

Step 5: Your Options If Both Partners Are Carriers

Finding out that both you and your partner carry the same mutation as you plan for a pregnancy is a significant moment and it can bring up a lot of emotions. The most important thing to know is that you have real, evidence-based options, and none of them require you to make an immediate decision. Your genetic counselor will walk you through each one carefully. 

Option 1: Preimplantation Genetic Testing for Monogenic Conditions (PGT-M) with IVF

PGT-M is the most proactive option for carrier couples who want a biological child with with the goal ofavoiding a genetic condition. Embryos are created through in vitro fertilization (IVF) and tested for the specific mutations before transfer to the uterus, with the goal of achieving a healthy pregnancy. Only unaffected (carrier, or non-carrier) embryos are selected for transfer.¹¹ According to the American Society for Reproductive Medicine (ASRM) 2023 committee opinion on PGT-M, this approach is recommended when a significant reproductive risk is identified.¹¹

Option 2: Natural Conception with Prenatal Diagnostic Testing

Couples who conceive naturally can use prenatal diagnostic testing to determine whether a pregnancy is affected. Chorionic villus sampling (CVS) can be performed between 10 and 13 weeks' gestation, while amniocentesis is typically offered from 15 weeks onward.⁹ Both procedures carry a miscarriage risk of less than 0.5% when performed by experienced providers.⁹ Results provide definitive information about whether the fetus has inherited the condition, allowing couples to make informed decisions about the pregnancy.

Option 3: Donor Eggs or Sperm from a Screened Non-Carrier

Using donor eggs or sperm from a screened non-carrier virtually eliminates the risk of passing the mutation to the child. Reputable sperm and egg banks screen donors for a broad panel of genetic conditions before making their gametes available.⁸ This option allows one partner to maintain a biological connection to the child while eliminating the risk associated with the mutation.

Option 4: Natural Conception with Full Awareness

Some couples choose to conceive naturally and use prenatal diagnostic testing (CVS or amniocentesis) to determine whether the pregnancy is affected. If the fetus is found to carry the condition, couples may choose to continue the pregnancy with preparation and specialist support, or to terminate the pregnancy. A genetic counselor can walk you through what a diagnosis would mean for your specific condition and help you think through all of your choices in a supportive, non-directive way.

Option 5: Adoption or Other Paths to Parenthood

Adoption, foster parenting, embryo donation, and other family-building paths are meaningful and valid choices. Many carrier couples choose these routes. A genetic counselor and mental health professional can support you in exploring all options without judgment.

Remember, No Decision is Required Immediately  

Finding out you are both carriers does not require an immediate choice. Your genetic counselor will review all options with you, provide resources, and support whatever timeline and path feels right for your family. jscreen's caring clinical team remains available throughout the process.

Step 6: Prenatal Testing During Pregnancy

If you are already pregnant, or if you conceived naturally as a carrier couple, prenatal testing options are available to determine your baby's genetic status during pregnancy.⁹

Professional societies agree that prenatal diagnostic testing should be offered to all pregnant individuals who desire definitive information during pregnancy, in addition to those with abnormal prenatal screening results or a family history of genetic conditions.⁹

Chorionic Villus Sampling (CVS)

CVS involves taking a small sample of placental tissue for genetic analysis. It can be performed between 10 and 13 weeks' gestation, making it the earliest available option for definitive prenatal diagnosis.⁹ The risk of miscarriage following CVS is approximately 0.22% when performed by a trained specialist.⁹ 

Amniocentesis

Amniocentesis involves sampling the fetal cells found in the amniotic fluid surrounding the baby and is typically performed from 15 weeks' gestation onward.⁹ The procedure-related miscarriage risk is approximately 0.13–0.27%.⁹ Unlike CVS, amniocentesis can also evaluate for neural tube defects and provides additional information about the amniotic environment.

Both CVS and amniocentesis are performed by maternal-fetal medicine specialists with ultrasound guidance, and both are highly accurate for detecting specific mutations identified through carrier screening.⁹

The Role of Genetic Counseling at Every Stage

Throughout the entire journey, from initial screening to understanding results to navigating reproductive options, genetic counseling is the thread that holds everything together. Certified genetic counselors are trained both in the science of genetics and in the emotional and psychosocial dimensions of genetic risk.

Post-result counseling helps couples understand their carrier status, the inheritance pattern of relevant conditions, the full range of reproductive options, and what to expect from each.⁶ The emotional implications of genetic testing are real and well-documented. Research confirms that receiving carrier results, especially when reproductive risk is significant, can produce significant anxiety, grief, and decision-making pressure. Skilled genetic counselors provide both accurate medical information and a safe, supportive space to process the emotional dimensions of that information.

Every jscreen test includes a telehealth appointment with a certified genetic counselor at no extra charge. If both partners test positive, jscreen's care navigators are also available to help coordinate next steps, connect you with reproductive specialists, and provide ongoing support. 

Frequently Asked Questions

We are an interfaith couple. Does only the Jewish partner need to be screened?

Both partners should be screened. If the Jewish partner is a carrier for a condition, the non-Jewish partner should be tested at minimum for that specific condition to determine whether both are carriers.⁵ Because many serious autosomal recessive conditions exist across all ancestries, expanded pan-ethnic carrier screening for both partners is the most comprehensive approach regardless of background.⁸

Can we be screened for Sephardic or Mizrahi Jewish genetic conditions?

Yes. While Ashkenazi Jewish genetic conditions are the most widely known, elevated carrier rates for certain conditions also exist in Sephardic and Mizrahi Jewish populations. A 2024 Israeli study by Reches et al. demonstrated that an expanded targeted preconception screening panel tailored to the diverse Israeli Jewish population, including Sephardic and Mizrahi subgroups, significantly increased identification of carrier couples.¹³ jscreen's expanded pan-ethnic panel covers conditions across all Jewish ancestries and all ethnic backgrounds.

We've already started trying to conceive. Is it too late to be screened?

No. Carrier screening can be done during early pregnancy as well.⁹ If you are already pregnant and both partners are found to be carriers, prenatal diagnostic options including CVS and amniocentesis remain available. While preconception screening allows for more time and more options, prenatal screening is still highly valuable.

What if we disagree on what to do after getting results?

This is not uncommon, and it is exactly why genetic counseling matters. Reproductive decisions when both partners are carriers can be emotionally complex, ethically nuanced, and deeply personal. Genetic counselors are trained to provide non-directive guidance; they present options and information without advocating for any particular choice. Many couples also find it helpful to work with a mental health professional alongside their genetic counselor during this process.

Your Family's Future Starts with Knowledge

Carrier screening is one of the most proactive and loving steps a family can take. Knowing your status doesn't change who you are, it simply gives you the information you need to make informed decisions, explore your options, and move forward with confidence. Every family's path looks a little different, but the goal is the same: bringing healthy children into the world and building a future full of possibilities. Whether you're just beginning to think about starting a family or are already on your way, jscreen is here to support you every step of the way. Order your at-home screening kit today at jscreen.org — because healthier futures start with knowledge.

Related Reading from jscreen

• Ashkenazi Jewish Genetic Diseases: A Complete Guide to Testing
• Understanding Carrier Status: What It Means for Jewish Families
• BRCA Gene Inheritance Explained: Making Testing Decisions for Your Family
• What to Do If Both Partners Are Carriers
• Reproductive Carrier Screen: What's Included and Why It Matters
• Hereditary Cancer Screening: BRCA1, BRCA2, and Beyond

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References

1. ARUP Consult. Ashkenazi Jewish Genetic Diseases. ARUP Laboratories, University of Utah. Updated 2024. https://arupconsult.com/content/ashkenazi-jewish-genetic-diseases https://arupconsult.com/content/ashkenazi-jewish-genetic-diseases

2. Mayo Clinic Health System. Carrier screening for family planning. Published June 23, 2023. https://www.mayoclinichealthsystem.org/hometown-health/speaking-of-health/carrier-screening-for-family-planning https://www.mayoclinichealthsystem.org/hometown-health/speaking-of-health/carrier-screening-for-family-planning

3. Cleveland Clinic. Ashkenazi Jewish genetic diseases: common conditions and carrier risks. Cleveland Clinic website. Published January 14, 2025. Accessed April 17, 2026. https://my.clevelandclinic.org/health/articles/ashkenazi-jewish-genetic-diseases 

4. Sagaser KG, Malinowski J, Westerfield L, et al. Expanded carrier screening for reproductive risk assessment: an evidence-based practice guideline from the National Society of Genetic Counselors. J Genet Couns. 2023;32(3):540-557. https://doi.org/10.1002/jgc4.1676

5. American College of Obstetricians and Gynecologists. Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Reaffirmed 2023. https://www.acog.org https://www.acog.org

6. American College of Obstetricians and Gynecologists. Committee Opinion No. 690: Carrier Screening in the Age of Genomic Medicine. Reaffirmed 2023. https://www.acog.org https://www.acog.org

7. Goldberg JD, Pierson S, Johansen Taber K. Expanded carrier screening: what conditions should we screen for? Prenat Diagn. 2023;43(4):496-505. https://doi.org/10.1002/pd.6306

8. Santoli F, Esteves SC, Yarali H, et al. An overview of current prenatal genetic screening and diagnosis guidelines. Pregnancy. 2025. doi:10.1002/pmf2.70016 https://doi.org/10.1002/pmf2.70016

9. National Human Genome Research Institute. Genetic Discrimination. Reviewed 2024. https://www.genome.gov/about-genomics/policy-issues/Genetic-Discrimination https://www.genome.gov/about-genomics/policy-issues/Genetic-Discrimination

10. Möller A-C, Nyfors A, Ravn K, Laulund L, Petersen OB, Skovbo P. Pregnancy planning and genetic testing: exploring advantages and challenges. J Clin Med. 2024;13(19):5671. https://doi.org/10.3390/jcm13195671

11. Practice Committees of the American Society for Reproductive Medicine. Indications and management of preimplantation genetic testing for monogenic conditions: a committee opinion. Fertil Steril. 2023;120(3):561-570. https://www.asrm.org/practice-guidance/practice-committee-documents/indications-and-management-of-preimplantation-genetic-testing-for-monogenic-conditions-a-committee-opinion-2023/

12. Wang T, Kiss D, McFadden K, et al. Clinical utility of reproductive carrier screening for preconception and pregnant couples for multiple genetic conditions: a systematic review and meta-analysis. Expert Rev Mol Diagn. 2023;23(5):419-429. https://doi.org/10.1080/14737159.2023.2198464

13. Reches A, Ofen Glassner V, Goldstein N, et al. Expanded targeted preconception screening panel in Israel: findings and insights. J Med Genet. 2024;61(8):783-787. https://doi.org/10.1136/jmg-2023-109629

14. Parikh F, Athalye A, Madon P, et al. Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M). Front Reprod Health. 2023;5:1213546. https://doi.org/10.3389/frph.2023.1213546

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Medical Disclaimer: This article is intended for informational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider or certified genetic counselor before making medical decisions. Carrier rates and statistics cited are based on published population studies and may vary.

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