Approximately 20% of all conceptions have a chromosomal disorder, but most of these fail to implant or are spontaneously aborted so the birth frequency is around 0.6%. In the newborn population the most frequent chromosome abnormality is Down’s syndrome (trisomy 21) which has a frequency of 1 in 700 births followed by less frequent abnormalities like Edwards syndrome (1 in 3000); Patau syndrome (1 in 5000); Klinefelter syndrome (1 in 1000) and Turner Syndrome (1 in 5000). These chromosome abnormalities are routinely screened at our laboratory in patients presenting with mental retardation, congenital malformation and infertility. Beside these chromosomal translocations are routinely investigated in couples experiencing reproductive failure.
Chromosome abnormalities as cellular changes cause transformation of a normal proliferation to a malignant one. This hypothesis of Boveri was documented in the first chromosomal involvement on neoplasia viz. the presence of Philadelphia chromosome in chronic granulocytic leukemia. The banding techniques are routinely utilized in our laboratory to detect 8;21 translocation in AML 9;22 translocation in CML; 4;11 and 9;22 translocation in ALL beside many other chromosomal rearrangements in various other types of blood cancers. Cytogenetic analysis in hematologic malignancies helps in accurate diagnosis, prognosis and monitoring of the treatment. It gives valuable information about disease-free and overall survival.
Another vital procedure for detecting chromosomal abnormalities in foetus is through withdrawing amniotic fluid or chorionic villus biopsy of the developing foetus which is popularly known as amniocentesis and chorionic villus sampling, respectively. A number of tests can be performed on the same, including chromosomal analysis, to screen for any chromosomal abnormalities. This procedure is carried out between 15 and 20 weeks of pregnancy for amniotic fluid and between 10 and 12 weeks of pregnancy for chorionic villus biopsy. Both amniocentesis and chorionic villus sampling can detect nearly all the chromosomal abnormalities including those caused by addition or deletion of an extra chromosome.
Our Vision
Our aim is to provide cutting edge diagnosis and treatment in autoimmune disorders, mainly Reproductive failure. We believe in the paradigm that Reproductive failure is an autoimmune disorder. According to us, a good diagnosis is one which has perfect clinical correlation and a good treatment protocol that benefits maximum number of patients.
Our Mission
India is not only the second most populated country of the world but also has one of the highest number of couples who fail to reproduce. It is our mission to reduce the number of couples experiencing repeated abortions and those who are infertile by offering scientific diagnostic and well tested treatment protocols.
