A couple approached us for the treatment of infertility. A standard history and examination was done, as is done for all such cases. It was found that the husband’s family had a history of hereditary kidney disease. His father and paternal uncles suffered from a disease called as ‘Autosomal dominant polycystic kidney disease’, in which both the kidneys become filled with cysts and patients may develop kidney failure by the 5th or 6th decade of life. In fact, such episodes of kidney failure had occurred in the family.
The husband was screened by an ultrasound of the kidneys which revealed that both kidneys had multiple cysts. Genetic testing of the husband and also his father i.e. whole exome sequencing, was done which conformed the diagnosis of ‘Autosomal dominant polycystic kidney disease.’ The husband also had a low sperm count.
The problem of low sperm count i.e. oligospermia, can be treated with advanced fertility treatments like IVF or ICSI. However, the problem in this case was the high risk of transmission of the kidney disease gene into the future child. What to do?? This is where genetics came into the picture!
After detailed counselling, the couple opted for IVF followed by genetic testing and treatment i.e. PGT. First, IVF was done (the reproductive cells of the husband and the wife were taken out and fertilized together in the IVF lab). Four embryos were formed. These embryos were tested by advanced genetic tests (PGT-M) and it was found that one of the embryos had the bad genes for the transmission of the kidney disease. Rest three embryos were normal. One of the normal embryos was implanted in the uterus and this resulted in a successful pregnancy. Repeat genetic testing at 17 weeks of pregnancy confirmed normal status of pregnancy. Finally, the patient delivered a healthy male baby of 2.8 kg at 37 weeks. Now, this baby has normal genes and will not either suffer from this kidney disease or transmit it further in the succeeding generations!
That is how genetics treats kidney disease!
