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Reproductive Diagnostics


What is infertility?

According to the World Health Organization (WHO), infertility is the inability to achieve pregnancy after more than 12 months of regular and unprotected sexual intercourse. It affects nearly 15% of all couples wishing to conceive and is generally contributed by males and females equally. In each cycle, there is only about a quarter of chances of achieving pregnancy by a couple. Infertility can be due to a variety of underlying factors, genetic and environmental being the two broad and foremost categories. Genetic variations can affect fertility by affecting the development of reproductive organs. 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, obesity or infectious disease or it can be immunological, psychological, result from surgery or blockage, or be associated with defined abnormalities in the gametes. Roughly 15% 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. A number of genetic factors have been identified to contribute to male and female infertility. The identification of underlying genetic causes can not only help in understanding the cause of infertility, but also guide the course of treatment.

When to suggest the infertility panel?
The following categories of the patients are ideal for suggesting infertility genetic testing panels:
•    Trying to conceive for one year or longer
•    Low sperm count, abnormal shape or low motility
•    Known fertility problems
•    Menstruation is irregular or absent (primary amenorrhea)
•    Small or irregular genitals and secondary sexual features (hair, breasts, etc.)
•    More than one miscarriage
•    IVF or ICSI candidates
•    General public for personal use

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.

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 infertility issues, Gene Print offers the following genetic tests for infertility. Genetic tests have been designed on the basis of literature and selected and optimized by our expert scientific advisors.

Male infertility panel
•    Y chromosome classical and partial deletion (AZF) analysis
•    SRY, AR, MTHFR 677 C>T and 1298 A>C testing, CFTR gene mutation testing, CATSPER1 mutation.

Female infertility panel
•    MTHFR 1298 A>C and 677 C>T testing, BMP15, FSHR, ZP1

Infertile couples panel
•    Y-deletion analysis, SRY, ZFY, X and Y aneuploidy testing using SRY and AMEL genes. AR, CATSPER1, CFTR, MTHFR, BMP15, FSHR, ZP1 gene analysis for mutations.

Infertility management after genetic testing
•    Genetic testing in infertile couples can help clinicians and the patients in making informed, wise and timely decisions.
•    In the cases with genetic abnormality in sperm, the couple may opt to use donor’s sperm for infertility management.
•    In case of genetic abnormalities in female, the couple may go for adopted ovum.
•    In case of male or female born genetic abnormalities, the couple may choose to go for IVF and ICSI and select embryos with no genetic abnormality.
•    Genetic investigations help in early decision making, thereby hastening the treatment process.
•    Detailed investigation with integrated counseling and follow-up can help in avoiding transmission of genetic abnormalities to the coming generations.
•    In the cases where genetic transmission cannot be blocked, appropriate counseling can be offered.

Specific tests in reproductive ailments
The above tests are for infertile couples are also available in specific categories if the disorder is well defined phenotypically.

•    Are you worried about your infertility risk?
•    Has anyone in your family suffered from infertility?
•    Do you find low semen volume in your ejaculate (<3ml)?
•    Do you feel problems with your sexual development?
•    Do you have smaller testicles?
•    Do you have breast enlargement (gynecomastia)?

•    Are you worried about your infertility risk?
•    Has anyone in your family suffered from infertility?
•    Do you have excessive facial hair growth?
•    Do you feel problems with your sexual development?
•    Have you not yet got menarche till 16 years of age?
•    Do you have abnormal looking external genitals?
•    Do you lack pubic/axillary hair?

•    Are you preparing to conceive?
•    Have you been diagnosed with low sperm count?
•    Have you been trying to conceive for more than one year?
•    Have you been diagnosed with infertility?
•    Have you been suggested to undergo IVF or ICSI for infertility treatment?
•    Have your previous IVF/ICSI cycle failed?

•    Are you pregnant?
•    Do you need extra folate?
•    Are you taking the risk of neural tube defects despite taking prenatals?
•    Are you at the risk of pregnancy loss?
•    Have you suffered from recurrent pregnancy loss?

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