Girl

A family from a remote Siberian region applied. Middle-aged parents were treated for infertility for a long time, they really wanted children. In vitro fertilization was recommended because other methods did not lead to the desired result. The long-awaited pregnancy has come. The genetic prenatal test BoBs was performed, which detects chromosomal abnormalities and micro-breaks in genes. Nothing pathological was found. However, at 33 weeks, echocardiography in the fetus (girl) showed multiple benign cardiac tumors. The presence of a hereditary disease - tuberous sclerosis was immediately suspected. The delivery went well, but immediately after birth, the child developed heart rhythm disturbances (attacks of a very rapid heartbeat), which greatly bothered and frightened the parents. Also, there were severe, difficult to control epileptic seizures that did not respond well to treatment. Since there is effective drug therapy for tuberous sclerosis, the child was recommended to undergo a genetic test in order to confirm the diagnosis and be able to receive expensive treatment free of charge. Parents paid for MLPA genetic testing - nothing was found. Thus, conducting two different genetic studies failed to confirm the diagnosis and enable the child to receive free treatment. The parents turned to the fund for help in paying for a genome-wide study, which revealed a very small defect / break in the gene (only 4 pairs of nucleotides), which could not be detected with other research methods, but it was he who caused the gene to malfunction. Thus, the diagnosis of tuberous sclerosis was genetically confirmed, and the child will be able to receive free treatment, which will significantly improve his condition and can lead to clinical recovery.