Beyond Carrier Screening: Understanding Genetic Testing and Genetic Counseling in Fertility Care
Reproductive genetics is not one test but a landscape of them. Expanded carrier screening, family-history assessment, genetic evaluation for selected infertility presentations, recurrent pregnancy loss evaluation, and emerging genomic technologies each answer different clinical questions.
Carrier screening is perhaps the most familiar part of this landscape. But infertility, pregnancy loss, significant family history, and other reproductive concerns may raise different genetic questions. As the options become more complex, genetic counseling can help patients and fertility clinicians clarify the questions being asked, consider which testing may be relevant, and understand what the results can and cannot tell them.
Understanding how these approaches differ is becoming an increasingly important part of fertility and reproductive care.
Expanded Carrier Screening
The American College of Medical Genetics and Genomics (ACMG) recommends offering broad, population-neutral Tier 3 carrier screening to individuals who are pregnant or planning a pregnancy.[1] More extensive Tier 4 screening may be considered when reproductive partners are biologically related or when personal or family history warrants it.[1] ACOG recognizes multiple approaches to carrier screening, including expanded carrier screening.[2][3]
A negative carrier screen lowers risk for the conditions evaluated but does not eliminate genetic risk. Carrier screening also does not evaluate the full range of genetic contributors to infertility or pregnancy loss.
When Family History or Consanguinity Changes the Approach
Biologically related reproductive partners are more likely to carry the same autosomal recessive disease-causing variant inherited from a shared ancestor.[4] ACMG recommends considering more extensive carrier screening for known or possible consanguineous relationships of second cousins or closer.[1]
A significant personal or family history may also warrant an individualized genetics evaluation. In some situations, targeted testing for a suspected condition or known familial variant may be more informative than an expanded carrier screening panel.
Genetic Testing for Infertility
Genetic testing has an established role in selected infertility presentations, although the indications and testing approaches differ depending on the clinical scenario.
Male Infertility
Current AUA/ASRM guidance includes specific indications for karyotype analysis, Y-chromosome microdeletion testing, and CFTR testing based on the clinical presentation.[5] For example, karyotype and Y-chromosome testing may be indicated in certain cases of azoospermia or very low sperm concentration, while CFTR testing has a role in men with vasal agenesis or idiopathic obstructive azoospermia.[5]
These tests address specific potential genetic causes of male infertility and may also provide information relevant to reproductive planning. Depending on the clinical scenario, further genetic evaluation or testing may be warranted.
Female Infertility
Genetic evaluation also has an established role in selected female infertility presentations. Primary ovarian insufficiency (POI) is one important example.
Current evidence-based POI guidance recommends chromosomal analysis and FMR1 premutation testing for women with non-iatrogenic POI.[6] Where available, additional genetic testing, including next-generation sequencing, may also be offered after comprehensive genetic counseling.[6]
Beyond established indications such as POI, the role of genetic testing depends on the clinical presentation and suspected underlying cause.
Genetic Testing for Recurrent Pregnancy Loss
Recurrent pregnancy loss (RPL) has a distinct genetic evaluation pathway.
Updated 2026 ASRM guidance recommends chromosome analysis of miscarriage tissue, when feasible, as a first step in RPL evaluation.[7] Array-based chromosome testing is recommended because of its technical advantages over traditional cytogenetic analysis.[7]
If an unbalanced structural chromosome rearrangement is identified, parental chromosome testing should be offered. Parental testing should also be offered when chromosome testing of miscarriage tissue is unavailable.[7]
Results from this evaluation can help guide whether additional genetic assessment is appropriate.
Genetic Testing for Unexplained Infertility
The role of broader genomic testing is less established in unexplained infertility. Researchers continue to investigate potential genetic contributors, including through exome and genome sequencing.
A 2023 New England Journal of Medicine study sequenced 197 women with unexplained infertility and identified pathogenic or likely pathogenic variants in medically actionable genes in 6.6% of participants.[8] However, the findings did not establish that these variants caused infertility, and the investigators did not recommend routine exome sequencing for unexplained infertility based on their findings.[8]
For now, established infertility evaluation remains the foundation. Broader sequencing is an evolving area, and its clinical utility and the patient populations most likely to benefit are still being defined.
Looking Ahead: A More Personalized Testing Landscape
Exome and genome sequencing are expanding our understanding of genetic contributors to infertility and reproductive disorders. As evidence grows and variant interpretation improves, broader genomic testing may become useful for more patients.
The future of reproductive genetics is not simply about more testing. It is about more individualized evaluation, with testing guided by the patient's presentation, history, previous results, and the information being sought.
Why Genetic Counseling Matters in Fertility Care
Navigating infertility and fertility treatments can be physically, emotionally, and financially demanding. Genetic testing can add another layer of decisions for patients and clinicians.
Genetic counselors can work alongside fertility physicians by reviewing personal and family history, supporting informed test selection, providing pre- and post-test counseling, and helping patients understand complex or uncertain results.
For fertility and IVF practices, integrating genetic counseling can expand access to genetics expertise while reducing some of the counseling and coordination demands that otherwise fall on fertility clinicians. This support does not necessarily require building an in-house genetics program; external genetic counseling services can also be integrated into existing care models.
The Takeaway
Genetic testing has different roles across fertility and reproductive care. The goal is not necessarily to order the broadest test available, but to match the genetic evaluation to the patient's history, presentation, and clinical question.
As reproductive genetics evolves, thoughtful integration of genetic counseling can help support informed, individualized, and patient-centered fertility care.
References
Gregg AR, Aarabi M, Klugman S, et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 2021;23(10):1793–1806.
American College of Obstetricians and Gynecologists. Carrier Screening in the Age of Genomic Medicine. Committee Opinion No. 690.
American College of Obstetricians and Gynecologists. Carrier Screening for Genetic Conditions. Committee Opinion No. 691.
Hamamy H, Antonarakis SE, Cavalli-Sforza LL, et al. Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genetics in Medicine. 2011;13(9):841–847.
Brannigan RE, Hermanson L, Kaczmarek J, Kim SK, Kirkby E, Tanrikut C. Updates to Male Infertility: AUA/ASRM Guideline (2024). Journal of Urology. 2024;212(6):789–799. doi:10.1097/JU.0000000000004180.
Panay N, Anderson RA, Bennie A, et al. Evidence-based guideline: premature ovarian insufficiency. Human Reproduction Open. 2024;2024(4):hoae065. doi:10.1093/hropen/hoae065.
Practice Committee of the American Society for Reproductive Medicine. Recurrent pregnancy loss: a committee opinion. Fertility and Sterility. 2026;125(6):1023–1041. doi:10.1016/j.fertnstert.2026.03.001.
Dougherty MP, Poch AM, Chorich LP, et al. Unexplained Female Infertility Associated with Genetic Disease Variants. New England Journal of Medicine. 2023;388:1055–1056. doi:10.1056/NEJMc2211539.
This article is intended for general educational purposes and summarizes selected U.S. professional guidance and peer-reviewed literature available at the time of publication. It is not medical advice and does not recommend any specific genetic test, testing strategy, diagnosis, or treatment for an individual patient. Appropriate evaluation depends on individual medical, family, and reproductive history and should be determined by qualified healthcare professionals.
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