Genetics and Their Role In Fertility  

If your mother and grandmother never had fertility problems, does that mean you are genetically predisposed to be as fertile as well?

A wide variety of factors can contribute to infertility, such as hormone imbalances or structural abnormalities affecting the reproductive organs. One factor that most women are unfamiliar with is genetics. Even though your mother or grandmother may not have ever experienced periods of infertility, you could have inherited genes that predispose you to conditions associated with infertility.

What is a Genetic Disorder?

Inside each cell in your body are structures called chromosomes that hold your individual genetic material. One chromosome may contain thousands of genes that determine things like your eye color, the shape of your nose, and even your personality. As genes are passed down among dozens of generations over hundreds of years, some may mutate abnormally for unknown reasons. Genetic mutations are the reason some people ultimately develop a disease or disorder.

In many cases, genes may carry the “code” for a certain disease but the person having those genes may never suffer from the disease. Geneticists think that some disorder-carrying genes have to be triggered by an internal or external stimulus to actually cause symptoms of the disorder. For example, someone may carry genes for schizophrenia but never develop symptoms because they were not exposed to the amount of psychosocial stress needed to trigger the gene. Here are a few genetic disorders affecting fertility in women.

Polycystic Ovary Syndrome (PCOS)

PCOS is a disorder of the endocrine system that disrupts hormone levels necessary for ovulation. Causes of polycystic ovary syndrome arise from a combination of lifestyle practices, general health, and genetics. Research indicates women who have mothers, sisters or grandmothers with PCOS may have a 50 percent risk of developing PCOS.

Uterine Fibroids

Ongoing research suggests that the development of uterine fibroids involves inherited genetic mutations. In most cases, noncancerous uterine fibroids are asymptomatic and remain undetected until a woman undergoes testing to find out why she is having trouble getting pregnant.

Fibroids can reduce fertility by blocking Fallopian tubes, changing the shape of the cervix, or changing the shape of the uterus. Sperm may be prevented from entering your uterus or prevent a fertilized egg from implanting itself following conception. Fibroids may also cause miscarriage when they interfere with blood flow to the uterus.


Environmental and genetic influences contribute to endometriosis, a disease characterized by abnormal accumulation of endometrial cells outside your uterus. Signs of endometriosis include infertility, severe cramping before and during periods, painful intercourse, and heavy or lengthy menstrual periods. Other genetic disorders known to cause infertility include sickle cell anemia, cystic fibrosis and Tay Sachs disease.

Genetic Testing and Infertility

Genetic testing involves examining genetic material called deoxyribonucleic acid (DNA) for evidence of genetic abnormalities. When infertility cannot be attributed to a certain disorder or disease, genetic testing can help identify possible causes of infertility so that appropriate treatment can begin. Reproductive endocrinologists can recommend what kind of genetic test would be helpful to determine if an inherited disorder is interfering with your ability to get pregnant.

When genetic disorders are ruled out as reasons for your infertility, our Melbourne fertility clinic provides fertility evaluations and state-of-the-art testing to pinpoint the exact reasons behind your infertility. Blood testing for ovarian reserve and hormone imbalances, imaging scans to ensure the uterus and fallopian tubes are healthy and pelvis ultrasounds are tests we offer to diagnosis what may be causing infertility. Male fertility tests are also available involving sperm and urological examinations, hormone blood tests, and genetic testing.

Viera Fertility Clinic has been helping women and their partners achieve pregnancy through fertility treatments, in vitro fertilization, intrauterine insemination and other reproductive technologies for over 15 years. If you have been trying to get pregnant for one year without success, call our fertility clinic in Melbourne today to schedule a consultation appointment with Dr. Chamoun.