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Female Infertility MAY BE HEREDITARY

Infertility is defined as failure to conceive in the setting of regular intercourse within 1 year for women younger than 35 years or within 6 months for women older than 35 years.

It affects both men and women. Approximately one in six couples wishing to start a family fall into this category. It is now estimated that nearly 50% cases of infertility have a genetic basis.

In case of females, disorders related to ovaries, recurrent miscarriages, early menopause and several other fertility related issues may have a genetic origin. Awareness may enable one to follow effective treatments and important family related decisions.

According to definition of the World Health Organization, infertility is a disease of the reproductive system wherein a sexually active couple is unable to conceive. A healthy young couple in their mid-twenties has only a 20–25% chance of establishing a pregnancy in each cycle and thus a range of factors, each with different extents of genetic control, may influence their chances.

A systematic analysis of health surveys of infertility since 1990 shows that 48.5 million couples are not able to have child within 5 years in the year 2010. Almost 70 million couples are infertile worldwide and the technologies that help in assisting reproduction are expensive.

Several genetic factors accounting for female infertility have been outlined. It is guessed that in about 10% of female infertile subjects genetic abnormalities could be present.

The genetic basis of infertility of females:

Several factors contribute to incidences of female infertility which include genetics, hormonal and environmental. Some other reasons include age-related factors, pelvic inflammatory disease, uterine fibroids and hostile cervical mucus.

The most common cases leading to female infertility may have a genetic basis:

Premature ovarian failure:

Premature ovarian failure is the situation when the ovaries stops functioning before age 40. Normal amounts of estrogen are not produced and the eggs are not released thereby resulting in infertility. According to estimates, 40% of premature ovarian failure can be due to genetic causes.

Symptoms- The symptoms are similar to that of menopause i.e., irregular and skipped periods and difficulty in conceiving.

Polycystic ovarian syndrome:

This is a hormonal disorder where women might experience infrequent periods. The ovaries do not release eggs and a number of follicles are developed. Abbreviated as PCOS, it is influenced by obesity and obesity is associated with genetic associations. In some cases, PCOS is a genetic disorder and therefore the risk of PCOS for members of such families is high. It is estimated that 30% of mother and 50% of sisters of people with PCOS can be affected.

Symptoms- Symptoms of PCOS includes enlarged ovaries, increased androgen and irregular periods.

Oocyte maturation defect:

It is common for a few oocyte to remain immature however, the complete failure of oocyte maturation is rare. This is an infertility disorder where there is a failure to resume up to meiosis II: a type of somatic cell division. Genetic factors including a mutation in TUBB gene may contribute to this .

Symptoms- The symptoms include infertility and fertilization failure.

Masculine traits in women:

This condition is due to the presence of excess male hormones which are primarily known as testosterone. Several genetic factors may contribute to this.

Symptoms- The symptoms include deepening voice, dark body hair in irregular places, acne etc.

This test is recommended for females with the following conditions:

  1. Trying to conceive for one year or longer
  2. Menstruation is irregular or absent
  3. Small or irregular genitals and secondary sexual features
  4. Known fertility problems
  5. More than one miscarriage
  6. Multiple failed IVF transfers

A lady may consider taking the test in the following cases too:

She is considering freezing her eggs
She plans to have children past the age of 35

She has been diagnosed with, shows symptoms of, or has a family history of the reproductive conditions like

  • Diminished or decreased ovarian reserve (DOR)
  • Early menopause
  • Endometriosis
  • Hyperandrogenism
  • Polycystic ovary syndrome (PCOS)
  • Primary ovarian insufficiency (POI)

We prefer a non-invasive sampling approach. Just two ml of your saliva deposited in a specialized collector at the ease of your home will do.

Our state of the art labs decode your personal genome and compares with the standard to look the variations.

All variations may not relate to a disease.Pathogenic variations are meticulously identified by our team of scientists.

All technical jargons simplified into an easy to understand report.

Our friendly genetic counsellor explains the report to you and answers your doubts if any

If any risk is identified, you may talk to a physician to work out a health plan of suitable alteration of a lifestyle, regular screening program and others.

Remember, awareness to a disease susceptibility is the first step to prevent or manage it.

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