Infertility is a complex yet common medical condition. It is estimated that 10 to 15 percent of couples experience infertility.
Treatments include a range of options from fertility preservation; sperm, egg and embryo donation; gestational surrogacy; intrauterine insemination; and in vitro fertilization.
Infertility is defined as the inability to achieve pregnancy within:
- 12 months of unprotected intercourse or therapeutic donor insemination in women younger than 35 years, or
- six months in women older than 35 years
The Numbers
- 1/3 (33%) of cases of infertility are related to female factors Genetics are known to contribute to approximately 10% of female infertility
- 1/3 (33%) of cases of infertility are related to male factors Genetics are known to contribute to approximately 15% of male infertility
- 1/3 (33%) of cases of infertility are due to either unknown causes or a combination of both female and male factors
Causes of Female Infertility
Female infertility can have multiple causes, including hormone changes, issues with ovulation, endometriosis or structural changes of the reproductive system. Additional components may influence female infertility including age, exposures, weight or a history of sexually transmitted diseases.
The American College of Obstetricians and Gynecologists (ACOG) has published guidelines regarding the initial evaluation that should be performed by your doctor if infertility is suspected.
Evaluations including obtaining a medical history, physical examination, and analysis of ovarian reserve, ovulatory function and structural abnormalities may be recommended.
Genetic testing can be done to determine whether you carry a genetic change that could be impacting your fertility. The two main types of genetic testing available for women experiencing infertility are:
- Genetic carrier screening, including the genes for Fragile X syndrome and congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
- A karyotype, which is a blood test to analyze the number and structure of one’s chromosomes. A karyotype can detect conditions such as Turner syndrome and chromosomal rearrangements.
Causes of Male Infertility
Male infertility can be caused by low sperm production, abnormal sperm function or blockages that prevent the delivery of sperm. Other factors such as chronic illnesses, injuries, lifestyle choices and genetics may also contribute to male infertility.
Evaluation for males with infertility involves taking a thorough medical history, a physical exam, semen analysis, blood work and possibly ultrasound exams.
Genetic testing can be done to determine whether a man carries a genetic change that could be impacting his fertility. The three main types of genetic testing available for men experiencing infertility are:
- Genetic carrier screening, which includes the gene for cystic fibrosis.
- A karyotype, which is a blood test to analyze the number and structure of one’s chromosomes. A karyotype can detect conditions such as Klinefelter syndrome and chromosomal rearrangements.
- Y chromosome microdeletion studies, which involves a blood test to target if specific regions of the Y chromosome that impact sperm development are missing.
Next Steps
Preconception genetic counseling at Genome Medical can help you understand the potential causes of your infertility and can help guide you through your reproductive journey. A Reproductive Genetic Counselor can address your concerns regarding your fertility, interpret your personal reproductive and family history, and discuss the potential benefits of genetic testing.
