When pregnancy doesn’t happen, understand why
Cellaviva Fertility Insight
When pregnancy doesn’t happen as expected, time, uncertainty, and unanswered questions can take a toll.
With a simple saliva test, you can gain insight into genetic factors that may be affecting your fertility, including causes that standard investigations may not always detect. This will help you make more informed decisions about the next step forward.
Explore the test
Fertility challenges are more common than you think
Infertility is defined as difficulty achieving pregnancy despite regular attempts for at least one year. It is a common medical condition affecting approximately 1 in 6 adults of reproductive age 1.
Infertility can have many different causes. In conventional fertility investigations, a cause is identified in around two-thirds of couples 2. For the remaining couples, genetic analyses may provide additional valuable information and contribute to more precise and individualised diagnostics.
Mapping your genetic profile may help identify underlying causes and create better conditions for selecting the right treatment approach. It is estimated that 10–15% of infertility cases can be fully or partly explained by genetic factors 3.
These analyses can provide clearer answers as to why pregnancy may be difficult to achieve. The results give you and your doctor a stronger foundation for choosing treatment tailored to your individual circumstances, helping improve the chances of achieving pregnancy.
Who Cellaviva Fertility Insight may be relevant for
The test may be relevant for individuals or couples in situations such as:
Unexplained infertility, for couples or individuals struggling to conceive
Couples or individuals who have experienced more than one miscarriage
Women with irregular or absent menstrual periods
Men with low sperm count or poor sperm quality
Candidates for sperm or egg donation
Cases of known infertility within the family
Couples or individuals planning assisted reproductive technology (ART)
Infertility analyses for female and male infertility:
The panels analyse different genetic changes that may be associated with infertility, including variations affecting the sex chromosomes.
The analyses are intended to complement clinical investigations and provide additional information for you and your healthcare provider to support more personalised fertility treatment decisions.
Cellaviva also offers a thrombophilia and NAIT panel, analysing genetic variants associated with recurrent miscarriage and pregnancy-related immune complications.
What we can help you analyse:
Fertility panel for couples
A combined genetic analysis for couples who want a broader understanding of their fertility together.
By analysing both partners simultaneously, the test may provide a more comprehensive understanding of possible genetic factors affecting fertility and contribute valuable information for further evaluation or treatment.
The Thrombophilia & NAIT panel can be added as an optional add-on.
This package includes the complete female and male fertility panels and may provide valuable information for further fertility investigations, fertility treatment, or future family planning.
• Complete female fertility panel
• Complete male fertility panel
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Female fertility panel (55 genes)
Genetic insights related to female fertility and reproductive health.
The panel analyses genetic variants associated with reduced ovarian reserve, hormonal disorders, absent ovulation, and other conditions that may affect fertility.
The Thrombophilia & NAIT panel can be added as an optional add-on.
The analysis tests for genetic variants associated with female infertility, including:
• Premature ovarian insufficiency (POI) 4
• Polycystic ovary syndrome (PCOS) 5
• Absent ovulation 6
• Low ovarian reserve (low AMH)
• Ovarian hyperstimulation syndrome 7
• Metabolic and endocrine conditions, such as Kallmann syndrome 8
Genes: AIRE, ANOS1, BMP15, CAPN10, CHD7, CYP11A1, CYP17A1, CYP19A1, DENND1A, DUSP6, EIF2B2, EIF2B3, FEZF1, FGF8, FGF17, FGFR1, FIGLA, FLRT3, FMR1, FOXL2, FSHB, FSHR, GALT, GDF9, GNAS, GNRH1, GNRHR, HESX1, HS6ST1, IL17RD, INS, INSR, IRS1, IRS2, KISS1, KISS1R, LHB, LHCGR, NOBOX, NR5A1, NSMF, POF1B, POLG, PROK2, PROKR2, PSMC3IP, SEMA3A, SPRY4, STAG3, TAC3, TACR3, THADA, WDR11, WT1, ZP1
Early identification of women with Premature Ovarian Insufficiency (POI) may help assess the need for egg retrieval and fertility preservation through egg freezing at a younger age, supporting future fertility and the possibility of pregnancy later in life.
Price:
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Male fertility panel (40 genes + sex chromosomes)
Genetic analysis related to sperm production and male fertility.
The panel analyses genetic variants associated with azoospermia, hormonal disorders, sex chromosome abnormalities, and other factors that may affect fertility.
The Thrombophilia & NAIT panel can be added as an optional add-on.
The analysis tests for genetic variants that may cause male infertility:
• Sex chromosome abnormalities 9
• Hormonal disorders, such as Kallmann syndrome 8
• Azoospermia, absence of sperm in semen
Genes: ANOS1, AR, AURKC, CATSPER1, CFTR, CHD7, DAZL, DDX25, DUSP6, FEZF1, FGF8, FGF17, FGFR1, FLRT3, FMR1, FSHB, FSHR, GNRH1, GNRHR, HESX1, HS6ST1, IL17RD, KISS1, KISS1R, LHB, LHCGR, NR5A1, NSMF, PRM1, PROK2, PROKR2, SEMA3A, SPRY4, SRD5A1, SRY, TAC3, TACR3, USP26, USP9Y, WDR11
Some men have no sperm in the semen, azoospermia, due to small deletions or changes on the Y chromosome. Genetic testing may help identify the cause and determine whether surgical sperm retrieval from the testicles (TESE) is a meaningful option. Of the three major genetic alterations associated with azoospermia, only one may allow sperm retrieval through TESE.
Price:
Coming soon
Thrombophilia & NAIT panel (22 variants, 17 genes)
Genetic analysis related to blood coagulation and pregnancy-related immune conditions.
The panel analyses genetic variants associated with increased risk of blood clotting, recurrent miscarriage, and immune reactions during pregnancy.
The analysis includes 22 genetic variants across 17 genes associated with thrombophilia and NAIT:
• Recurrent miscarriage
• Increased risk of blood clots (thrombophilia)
• Neonatal alloimmune thrombocytopenia (NAIT), a rare condition in which the pregnant woman’s immune system produces antibodies against the fetus’ platelets during pregnancy or after birth 10
Gener: NM_000130.4(F5):c.1601G>A (p.Arg534Gln). NM_000130.4(F5):c.3980A>G (p.His1327Arg). NM_000129.3(F13A1):c.103G>T (p.Val35Leu). NM_000212.2(ITGB3):c.176T>C (p.Leu59Pro). NM_000173.7(GP1BA):c.482C>T (p.Thr161Met). NM_000419.5(ITGA2B):c.2621T>G (p.Ile874Ser). NM_000212.2(ITGB3):c.506G>A (p.Arg169Gln). NM_002203.4(ITGA2):c.1600G>A (p.Glu534Lys). NM_000212.2(ITGB3):c.1544G>A (p.Arg515Gln). NM_000602.5(SERPINE1):c.-820G[(4_5)]. NM_005957.5(MTHFR):c.665C>T (p.Ala222Val). NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala). NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_14382. NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln). NM_000041.2(APOE):c.526C>T (p.Arg176Cys). NM_000041.4(APOE):c.388T>C (p.Cys130Arg). NM_000254.2(MTR):c.2756A>G (p.Asp919Gly). NM_002454.3(MTRR):c.66A>G (p.Ile22Met). NM_000029.4(AGT):c.803T>C (p.Met268Thr). NM_031850.3(AGTR1):c.*86A>C. NM_000852.4(GSTP1):c.313A>G (p.Ile105Val). NM_000506.5(F2):c.*97G>A.
Kan väljas som tillägg till kvinnlig eller manlig panel eller som fristående analys.
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From insight to the next step
Early genetic diagnostics provide a stronger foundation for treatment decisions and may improve prognosis. The analyses provide a detailed understanding of your reproductive health and identify genetic factors that may affect fertility. This enables more personalised and effective treatment approaches.
Once the results are available and the underlying cause of fertility challenges has been identified, different treatment approaches may be considered. Treatment decisions are based on the identified cause, age, and your individual circumstances, with the goal of maximising the chances of pregnancy.
Possible treatment approaches:
• Lifestyle adjustments to improve overall health
• Medical treatment, such as hormone therapy to regulate ovulation cycles or sperm production, or ovulation-stimulating medication
• Surgical procedures, including sperm retrieval (TESE)
• Fertility preservation, such as egg, sperm, or embryo freezing
The results may provide valuable information for further discussions with your doctor or fertility specialist, as well as support a better understanding of possible next steps and fertility-related conditions. Medical treatment decisions should always be made in consultation with a qualified healthcare provider, based on the identified cause, age, and individual circumstances, to maximise the chances of pregnancy.
Results are typically available within 2–4 weeks from the time your sample reaches the laboratory.
This timeframe allows for comprehensive genetic analysis using clinically validated methods, ensuring reliable and high-quality results.
In many cases, standard fertility investigations focus on hormonal levels, anatomy, and general reproductive function.
Genetic factors are not always part of routine evaluation, which means that underlying causes may remain unexplained.
This analysis focuses specifically on inherited and chromosomal variations that may affect fertility, providing an additional layer of insight when other results are inconclusive.
The analysis is based on advanced genetic sequencing with high sensitivity and specificity, designed to reliably identify clinically relevant genetic variants.
The methods used are established in clinical practice and built on validated scientific research.
This ensures that the results provide a dependable foundation for further medical evaluation and decision-making.
The test can be taken individually or as a couple.
Since fertility challenges can be influenced by factors in both women and men, analysing one or both partners may provide a more complete understanding.
The appropriate approach depends on your situation and can be discussed with your healthcare provider or fertility specialist.
Genetic testing can be relevant both before and during fertility treatment.
In cases where treatment has not led to the expected outcome, it may help explain why and guide adjustments in approach.
It can also support more informed decisions before starting treatment, helping to reduce uncertainty and avoid unnecessary interventions.
Yes. Identifying genetic factors may influence which treatments are most appropriate.
Depending on the findings, this may help prioritise certain approaches, avoid ineffective options, or support earlier decisions around fertility preservation.
The results are intended to support, not replace, clinical evaluation, and should always be interpreted together with your healthcare provider or fertility specialist.
Not all fertility challenges have a genetic explanation.
If no clinically relevant genetic variants are identified, the results can still be valuable by helping to rule out certain causes and narrowing the focus for further investigation.
This can support more efficient decision-making and reduce uncertainty in the next steps.
How does it work?
The test is performed using a simple cheek swab collected at home, and the analyses provide a clearer understanding of your genetic conditions related to fertility and pregnancy.
After sampling, your DNA is analysed by an accredited laboratory partner using next-generation sequencing (NGS). The analysis includes gene panels associated with fertility, hormonal regulation, and reproductive health.
The tests have very high sensitivity and specificity for reliably identifying pathogenic and likely pathogenic genetic variants 11.
The analyses are based on the latest scientific research and use clinically validated and scientifically established methods. They are established in clinical practice and validated to ensure reliable results.
Clearer answers, based on your genetics. This analysis provides insight into genetic factors that may affect fertility in both women and men and may help explain why pregnancy can be difficult to achieve, even when standard fertility investigations have not provided clear answers.
At Cellaviva, we believe fertility decisions should be guided by knowledge and understanding, not unanswered questions. Cellaviva Fertility Insight is designed for individuals who want a clearer understanding of their own conditions and how these may affect the possibility of pregnancy.
The results provide you and your doctor with a stronger foundation for choosing the right next step, whether that means adjusting treatment, avoiding unnecessary procedures, or acting earlier.
Because in many cases, the difference is not continuing without answers, but understanding what may actually be holding you back.
Take control of your fertility earlier
You cannot always predict the future, but you can understand your fertility sooner. The earlier you gain insight, the clearer the next step becomes, before time becomes a limiting factor.
References
- Harris, E. Infertility Affects 1 in 6 People Globally. JAMA 329, 1443, doi:10.1001/jama.2023.6251 (2023).
- Cariati, F., D’Argenio, V. & Tomaiuolo, R. The evolving role of genetic tests in reproductive medicine. J Transl Med 17, 267, doi:10.1186/s12967-019-2019-8 (2019).
- Ferlin, A., Arredi, B. & Foresta, C. Genetic causes of male infertility. Reprod Toxicol 22, 133-141, doi:10.1016/j.reprotox.2006.04.016 (2006).
- Heddar, A. et al. Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine. EBioMedicine 84, 104246, doi:10.1016/j.ebiom.2022.104246 (2022).
- Khan, M. J., Ullah, A. & Basit, S. Genetic Basis of Polycystic Ovary Syndrome (PCOS): Current Perspectives. Appl Clin Genet 12, 249-260, doi:10.2147/TACG.S200341 (2019).
- Yatsenko, S. A. & Rajkovic, A. Genetics of human female infertilitydagger. Biol Reprod 101, 549-566, doi:10.1093/biolre/ioz084 (2019).
- Rizk, B. Symposium: Update on prediction and management of OHSS. Genetics of ovarian hyperstimulation syndrome. Reprod Biomed Online 19, 14-27, doi:10.1016/s1472-6483(10)60041-7 (2009).
- Dode, C. & Hardelin, J. P. Kallmann syndrome. Eur J Hum Genet 17, 139-146, doi:10.1038/ejhg.2008.206 (2009).
- Jedidi, I., Ouchari, M. & Yin, Q. Sex chromosomes-linked single-gene disorders involved in human infertility. Eur J Med Genet 62, 103560, doi:10.1016/j.ejmg.2018.10.012 (2019).
- Bogdanova, N. & Markoff, A. Hereditary thrombophilic risk factors for recurrent pregnancy loss. J Community Genet 1, 47-53, doi:10.1007/s12687-010-0011-3 (2010).
- Patel, B. et al. Comprehensive genetic testing for female and male infertility using next-generation sequencing. J Assist Reprod Genet 35, 1489-1496, doi:10.1007/s10815-018-1204-7 (2018).
