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Womens Reproductive Health And Genetic Testing
Feb 2018
Dr Shailesh Pande
Consultant-HOD, Department Of Genetics, Mumbai

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.

  • Menstrual abnormalities
  • Recurrent pregnancy losses
  • Reduced fertility or infertility
  • Preterm delivery
  • Birth defect
  • Developmental delays

Genetic Variations
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.

Stop The Risk Of Recurrence
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.