Infertility can be heartbreaking discovery to both individuals and couples. Genetics in infertility has always been a neglected topic. It was always considered that fertility and genetics are two different streams and were only considered in couples having history of inherited genetic condition. However, due to newer ongoing research in the field of infertility, genetics and genetic factors are studied now a days especially in case of repeated failure of pregnancy and failure of IVF cycles.
Genetics play an important role in unexplained causes of infertility that constitute 1/3rd of infertility cases. Genetics also play a role in unexplained failure of IVF.
GENETIC DISORDERS CAUSING FEMALE INFERTILITY
Genetics contribute to approximately 10% of female infertility. Certain genetic factors that impact female infertility include an inherited chromosome change or a single – gene variant passed from parent to child. In addition, individuals with a family history of certain medical conditions, such as early menopause or endometriosis have increased chance of getting the same health issues.
Specific genetic and chromosome conditions that may cause female infertility include:
- Turner’s syndrome
- Primary ovarian insufficiency
- Congenital adrenal hyperplasia (CAH)
- Chromosomal rearrangements
GENETIC DISORDERS CAUSING MALE INFERTILITY
Genetics are known to contribute to approximately 15% of male infertility. Specific genetic conditions and chromosome issues that may cause male infertility include:
- Klinefelter syndrome
- Kallman syndrome
- Cystic fibrosis
- Y chromosome microdeletions
- Chromosome rearrangements
One of the best ways to address the age – associated decline in fertility is through Pre – implantation Genetic Testing (PGT). Preimplantation Genetic Testing (PGT) is a procedure used in Assisted Reproductive Technology (ART) or IVF to screen embryos for genetic abnormalities before they are transferred to the uterus. Because only unaffected embryos are transferred to the uterus for implantation, PGT is the only method available for screening embryos before pregnancy and provides an alternative to current post conception diagnostic procedures (like amniocentesis or CVS) which are frequently followed by the difficult decision of determining the pregnancy’s outcome.
INDICATIONS FOR GENETIC SCREENING
These include:
- Women of advanced maternal age
- Couples with a history of recurrent pregnancy loss
- Couples with repeated IVF failure
- Male partner with severe male factor infertility
Some of the uses of Preimplantation Genetic testing (PGT) include:
- To discover any health condition that you may not be aware of
- To learn about current genetic conditions that affect your ability to conceive
- To eliminate the risk of passing down genetic conditions to your children
- In some countries, you can determine the sex of the embryo before transferring in IVF.
Preconception or prenatal genetic counselling at Fertility Foundation/ SISU Hospital can help you understand the potential causes of infertility and can help guide you through your reproductive journey. For further assistance please be free to contact our fertility experts.
