Most fertility problems are not genetic, but in some couples genetic factors play a part. Genetic tests can help explain infertility or recurrent miscarriage and guide treatment. Which tests are needed depends on your history and other results.
When is genetic testing recommended?
- Severe male infertility, such as a very low sperm count or no sperm
- Early menopause or very low ovarian reserve at a young age
- Recurrent miscarriage
- A family history of a genetic condition, or both partners being carriers
- Repeated unsuccessful IVF in some cases
Common genetic tests in fertility care
Karyotype (chromosome analysis)
A blood test that looks at the number and structure of chromosomes. It may be recommended for couples with recurrent miscarriage or severe male infertility, to look for balanced rearrangements or conditions such as Klinefelter syndrome in men or Turner syndrome in women.
Y chromosome microdeletion test
For men with very low or absent sperm, this test checks for small missing sections of the Y chromosome that affect sperm production. It helps predict whether sperm retrieval may succeed. See micro-TESE.
CFTR (cystic fibrosis gene) testing
Men born without the tubes that carry sperm (congenital absence of the vas deferens) are often carriers of cystic fibrosis gene changes. Testing both partners helps assess the risk to children.
Fragile X (FMR1) testing
Women with early menopause or very low ovarian reserve may be offered this test, as a change in the FMR1 gene is linked with premature ovarian insufficiency.
Carrier screening
Tests for conditions common in a population, such as thalassaemia, can show whether both partners carry the same condition.
Preimplantation genetic testing (PGT)
During IVF, embryos can be tested for chromosomal problems or for a specific inherited condition before transfer. See preimplantation genetic testing.
Genetic counselling
Results can be complex. Genetic counselling helps you understand what a result means for you, your partner and future children, and what options are available. Read genetic infertility.
Frequently asked questions
Do all couples need genetic testing for infertility?
No. Genetic tests are recommended only in specific situations, such as severe male infertility, early menopause or recurrent miscarriage.
What is a karyotype test?
A blood test that checks the number and structure of chromosomes in each partner.
Can genetic problems be avoided in IVF?
For couples with a known inherited condition, IVF with preimplantation genetic testing can help select embryos without that condition.
If you have questions about your own situation, you can meet our doctors at our Basavanagudi, Koramangala and Ballari centres, or contact us to book an appointment.
This article is for general information and does not replace medical advice. Treatment decisions should be made with a qualified doctor who knows your history.