How Genetics Influences Fertility
- Chromosomal Abnormalities: Structural or numerical changes in chromosomes can affect egg and sperm quality, embryo development, and the ability to conceive or maintain a pregnancy. For example, conditions like Turner syndrome or Klinefelter syndrome can lead to ovarian or testicular dysfunction, respectively, resulting in reduced fertility[1][2].
- Inherited Genetic Disorders: Single-gene mutations, such as those causing cystic fibrosis or sickle cell anemia, can be passed from parent to child. Carrier screening and preimplantation genetic testing (PGT-M) can identify embryos at risk, allowing for informed family planning and reducing the chance of transmitting serious genetic diseases[3][4].
- Hormonal and Ovarian Function: Genetics can affect hormone production and ovarian reserve, impacting conditions like polycystic ovary syndrome (PCOS), premature ovarian insufficiency, or early menopause. These conditions often run in families and can influence the timing and success of conception[5][2].
- Male Factor Infertility: Genetic changes, such as Y-chromosome microdeletions or mutations in the CFTR gene, can impair sperm production, motility, or transport, leading to male infertility[1][2].
The Role of Genetic Testing in Fertility Care
Advances in genetic testing now allow for comprehensive assessment of genetic factors affecting fertility:
- Preimplantation Genetic Testing (PGT): Used during IVF, PGT can screen embryos for chromosomal abnormalities (PGT-A), single-gene disorders (PGT-M), and structural rearrangements (PGT-SR), improving implantation rates and reducing miscarriage risk[6][3][4].
- Carrier Screening: Identifies whether one or both partners carry genes for inherited conditions, informing reproductive choices and guiding the use of assisted reproductive technologies[4].
- Personalized Treatment: Understanding your genetic profile helps fertility specialists tailor treatment plans, optimize chances of success, and minimize risks to both parent and child[7][8][4].
When to Consider Genetic Screening
Genetic testing is particularly recommended for:
- Couples with a history of recurrent miscarriages
- Individuals or couples with a known family history of genetic disorders
- Women of advanced maternal age
- Couples experiencing unexplained infertility[3][5][4]
Patient Reflection
If you have undergone genetic screening, you may have gained clarity about the causes of infertility, identified potential risks for inherited conditions, or received guidance on selecting the healthiest embryos during IVF. Sharing your experience can help others understand the value of genetics in fertility care and encourage informed, proactive decision-making.
