Female reproductive health relates to a condition, disease or disorder by which the reproductive system is affected, during all stages of life, unless medically intervened. In clinical practice of reproductive medicine, genetic evaluation is a standard requirement for diagnosis and management. Reproduction helps to inherit and conserve genetic identity, but genetic variations can affect reproducibility Here are some of the major concerns of reproductive health in females.

The causes of the above conditions can be genetic or non-genetic. Genetic variations can be at different resolutions of the genome, such as gross chromosomal abnormalities, single gene disorders, complex genetic inheritance or multifactorial. Chromosomal abnormalities contribute for almost 60 per cent of spontaneous abortions and the most common type is trisomy, the extra copy of chromosome and its association with advanced maternal age.

Genetic etiology in couples with a history of repeated pregnancy losses, babies with mental retardation or developmental delays is due to the presence of a balanced chromosomal translocation that gets passed in an unbalanced form to the next generation. Hence, elucidating the type of genetic abnormality can help a genetic counsellor to understand the risk of recurrence and to discuss the option of prenatal testing, if required.

Sex chromosomal abnormalities, mainly numerical followed by structural, are an important cause of menstrual disorders and therefore confirming the clinical diagnosis by doing genetic testing is utmost important. Sex chromosomal abnormalities are one of the most common findings in infertility cases, followed by the presence of a single gene disorder in the form of permutation status of Fragile X syndrome in females which can lead to premature ovarian failure and subsequent infertility.

Therefore, in couples with history of infertility, knowing the genetic status may help the couple avoid an expensive and extensive work up. It can also help the genetic counsellor and the clinician to discuss the options of reproduction to help make them an informed choice. Further, complex genetic inheritance may be the cause of polycystic ovaries and endometriosis, but large cohort study is required for fully understanding the genetic contributions to this disorder.

The results of genetic testing are not only applicable to the individual but also to the family. Hence, it not only helps the individual but also helps all the family members who are at risk.

Originally posted here:
Women's Reproductive Health And Genetic Testing - Version Weekly

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