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Genetic Testing for Infertility Indications

Identifying genetic causes of infertility to facilitate informed decisions and family planning for your patients.

Symptoms related to a genetic cause

Infertility is a complex disease of the reproductive system characterized by the inability to achieve pregnancy after more than 12 months of regular, unprotected sexual intercourse. It has been estimated that as many as 15% of all couples wishing to conceive are affected by infertility1,2; it is generally attributed to males and females equally. Indications of infertility in women include irregular or missed periods, polycystic ovarian syndrome or endometriosis; in men infertility is typically suggested by low (or no) sperm count or low sperm motility.

Genetic testing can be the key for a significant number of infertile couples trying to have children. Understanding the reason for infertility can often lead to success with a range of assisted reproductive techniques. Counseling of parents can explain any potential to transmit genetic abnormalities that may affect the health of their offspring.

Referral reasons

  • Individuals with presentation of the most common symptoms of infertility such as amenorrhea, azoospermia, secondary sex character findings

  • Individuals with a positive family history of infertility

  • Individuals without a positive family history but with characteristic symptoms

  • Individuals with a negative but suspected family history in order to perform proper genetic counseling (prenatal analyses are recommended in families of affected individuals)

Diagnostic strategy

Confirmation of a clinical diagnosis through genetic testing allows for genetic counseling and may lead to immediate medical management. For each presented case and phenotype, a full medical report will be produced including a tailored diagnostic strategy.

Clinical symptoms are not always the product of the same gene or genetic variation; any diagnosis is determined as a combination of the in-depth clinical information provided and the identified genetic cause.

What do we know about reproductive system diseases?

Reproductive genetics involves a wide array of genetic tests that are conducted with the intent of informing individuals about the possible outcomes of current or future pregnancies. Infertility can be the result of genetic and non-genetic factors, and it is often multifactorial, polygenic or a combination of both. However, specific genes and mutations have been confirmed to be associated with infertility phenotypes in males, females or both, and our knowledge of the nature of the basis of infertility is continually growing.

Roughly 10% of infertility cases have a genetic etiology. Known genetic causes of infertility include chromosomal aberrations, single gene variants and phenotypes with multifactorial inheritance3.

A recent survey of published literature reported over 350 genes reported that play a role in human infertility and/or reproduction4, with ~15% locating to either sex chromosome (X and Y). These genes represent a wide range of functions including sex hormone, organ development, growth and germ cell production.

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What can CENTOGENE do for you and your patients?

CENTOGENE is a global leader in the diagnosis of rare genetic diseases and has received multiple international accreditations (ISO/EN 15189, CAP and CLIA) that confirm the highest standards for diagnostic testing and reporting. Our experience, combined with our scientific expertise and medical competence, has allowed the application of state-of-the-art science and technology and the development of a proprietary mutation database.

CENTOGENE has identified genetic variants associated with reproductive genetics in more than 35 different genes.

CentoMD® is the world’s largest mutation database for rare diseases, 57% of which is made up of unpublished variants. We carefully curate and document all variants that have clinical relevance for related symptoms, allowing the most comprehensive diagnosis of a reproductive disease.

References:
  1. World Health Organization. Report of the Meeting on the Prevention of Infertility at the Primary Health Care Level. WHO, Geneva; 1983. WHO/MCH/1984.4.
  2. Boivin J, Bunting L, Collins JA, & Nygren KG (2007). International estimates of infertility prevalence and treatment-seeking: potential need and demand for infertility medical care. Human reproduction, 22(6), 1506-1512.
  3. Shah K, Sivapalan G, Gibbons N, Tempest H, & Griffin DK (2003). The genetic basis of infertility. Reproduction, 126(1), 13-25.
  4. Butler MG, Rafi SK, McGuire A, & Manzardo AM (2016). Currently recognized clinically relevant and known genes for human reproduction and related infertility with representation on high-resolution chromosome ideograms. Gene, 575(1), 149-159.

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