Male and female infertility testing
Knowing the exact cause of infertility allows for better diagnostic decisions, and enables enhanced counseling for parents with regard to risks for their children. For this reason, genetic testing has the potential to help a significant number of couples in their wish to have children.
When to suggest the infertility panel
The infertility panel can be recommended for the following patients:
- Trying to conceive for one year or longer
- Menstruation is irregular or absent
- Low sperm count, form or movement
- Small or irregular genitals and secondary sexual features (hair, breasts, etc.)
- Known fertility problems
- More than one miscarriage
What does infertility mean?
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 affects nearly 15% of all couples wishing to conceive and is generally attributed to males and females equally. A healthy young couple in their mid-twenties has only a 20–25% chance of achieving pregnancy in each cycle; a range of factors, each with different extents of genetic control, may influence their chances. Infertility can be hormonal, related to age, exercise, obesity or infectious disease; it can be immunological, psychological, result from surgery or blockage, or be associated with defined abnormalities in the gametes.
Roughly 10% of infertility cases have a genetic etiology. Some patients have a combination of symptoms that does not allow for the hypothesis to be narrowed down to one particular underlying genetic cause. Performing numerous physical tests is costly and time-consuming. Most importantly, delayed diagnosis and treatment have a dramatic impact on a patient’s quality of life.
Downloads for Infertility Testing
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How CENTOGENE helps to detect your genetic cause
A considerable number of couples suffering from infertility spend years in search of treatment options, often with physical, emotional and economic losses. Identifying the cause of infertility facilitates a personalized and informed manner of management that can be adapted to the needs of the people seeking medical support.
To resolve this challenge, CENTOGENE offers three different infertility genetic panels based on comprehensive scientific literature research and our own medical expertise, taking into account the common genetic causes of isolated infertility.
The goals of genetic evaluation
- Potentially correctable conditions
- Irreversible conditions that are amenable using assisted reproductive techniques involving the sperm of the male partner
- Irreversible conditions that are not amenable, and for which assisted reproduction procedures cannot help
- Life-threatening or debilitating conditions that may be the underlying cause of infertility and require medical attention
- Genetic abnormalities that may affect the health of offspring if assisted reproductive techniques are employed
In males, genetic abnormalities may cause infertility by affecting sperm production or sperm transport. The most common genetic factors related to male infertility are: cystic fibrosis gene mutations, chromosomal abnormalities.
Our male infertility panel covers the genes AR, CATSPER1, CFTR, FSHR, LHCGR.
The most common genetic causes of infertility in females are chromosomal abnormalities.
Our female infertility panel covers the genes BMP15, CYP21A2, FSHR, LHB, LHCGR, TUBB8, ZP1.
Infertility management after genetic testing
When couples wishing to conceive who have a genetic cause of infertility, some will choose intrauterine insemination using donor sperm or adoption, while some couples will elect not to have children.
In cases when it is the sperm-related conditions that are responsible for infertility, the number of sperm is usually very low. In many cases, these sperm can be used to fertilize the woman’s eggs in a laboratory using a technique called intracytoplasmic sperm injection (ICSI).
Also, detection of certain genetic causes of male and female infertility allows couples to be informed about the potential of transmitting genetic abnormalities that may affect the health of offspring.
Carrier screening is a genetic test used to determine if a healthy person is a carrier of a recessive genetic disease. The goal of carrier screening is to help individuals understand their risks of having a child with a genetic disorder and review the range of options available to guide pregnancy…
Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations. Ten parental alleles in eight unrelated fetuses were diagnosed successfully based on the noninvasive method developed in this study.
Validation of a Semiconductor Next-Generation Sequencing Assay for the Clinical Genetic Screening of CFTR
Genetic testing for cystic fibrosis and CFTR-related disorders mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the CFTR gene. We have explored a more efficient genetic screening strategy based on next-generation sequencing of the CFTR gene.