Nagpur: Difficulty in conceiving affects one in five couples, with 50per cent cases attributed to issues in the male partner, which may be caused by genetic or acquired factors. A breakthrough by an Indian lab now allows detection of one such defect at the local level, using a small kit specially designed for Indian men.
A significant genetic cause of male infertility is known as ‘Y chromosome microdeletion’. Men with this condition are only able to become fathers through assisted reproductive techniques such as IVF, as there are no medications that can improve their sperm count or motility.
Furthermore, this genetic defect is 100per cent passed from fathers to their sons, meaning all male babies born to fathers with Y chromosome microdeletions will be infertile.
Scientists at the Molecular and Cellular Biology Laboratory of ICMR-National Institute for Research in Reproductive and Child Health have developed a kit and an AI-based software to accurately diagnose this genetic cause of male infertility.
The invention will assist clinicians in providing genetic counselling to infertile men before they opt for assisted reproductive techniques like IVF. It also empowers couples to make informed decisions about biological parenthood, considering the risk of passing on infertility within the family.
For men with Y chromosome microdeletions, there is a possibility of retrieving sperm from the testis, allowing them to father a child through assisted reproduction methods like IVF. However, before beginning the high-cost IVF treatment, doctors and patients need to know the potential success rate in cases of Y chromosome microdeletions.
To address this concern, ICMR scientists developed an AI algorithm based on machine learning. This algorithm predicts the rate of sperm retrieval, fertilization, clinical pregnancy, and live birth, based on the identified microdeletion. It provides valuable information about the genetic basis of the microdeletion, helping doctors and patients understand the chances of successful assisted reproduction.
“Our assay accurately diagnoses the genetic cause of male infertility, while the software aids doctors in genetic counselling before finalising assisted reproductive techniques,” explained Dr Deepak Modi, a scientist from ICMR’s Molecular and Cellular Biology Laboratory, who shared this information during a conference at Nagpur.
Y chromosome microdeletions involve small deletions in the long arm of the Y chromosome, which remove all or parts of the Azoospermia Factor (AZF) region. The global prevalence of Y chromosome microdeletions is 7per cent, with approximately 7-8per cent of infertile men in India affected by this condition.
