What is Karyomapping?
Garbhagudi IVF Center (Kalyan Nagar)
Kalyan nagar, Bengaluru Feb 9, 2017
To all the couples struggling to get pregnant “hold the horses”, science has a solution to it. IVF or in-vitro fertilization is the treatment where eggs and sperm are taken from the respective individual and fertilized in a lab condition. Post-fertilization the embryo is tested for any possible genetic disorders with the procedure called Preimplantation Genetic Diagnosis (PGD) and transferred to a woman’s womb (embryo transfer). The embryo on entering the womb attaches itself to the lining of the uterus for nutrients and develops and grows there (implantation).
Preimplantation Genetic Diagnosis (PGD) can be performed to help identify the genetic defects within embryos. This helps in the prevention of certain genetic disorders or diseases from being passed on to the child. PGD is also helping to identify many monogenic disorders. Monogenic disorders occur when there is a mutation of a single gene in the DNA, causing problems like cystic fibrosis and Huntington disease.
What exactly is Karyomapping?
Karyomapping is PGD screening for single gene disorders, it is a single nucleotide polymorphism (SNP) test. Single nucleotide polymorphisms (also pronounced “snips”) are a common genetic variation in people. Normally in a DNA, adenosine (A) pairs up with thymine (T) and guanosine (G) pairs with cytosine (T) but SNP represents a difference in a nucleotide (single DNA building block). For example, here a nucleotide cytosine (C) can pair up with the nucleotide thymine (T) in a certain stretch of DNA causing a genetic disorder. This defect can be identified by Karyomapping. It uses DNA finger-printing technique to identify the embryos with the altered gene.
- With the help of a simple blood or saliva test, DNA samples are collected from the couple whose genetic status for the disease is known. The faulty gene region of the DNA sample is determined using preliminary Karyomapping test.
- After this, the cells from the newly developed embryos (part of the IVF procedure) are taken carefully and tested for the DNA fingerprint. This reveals whether the embryos have or have not inherited the altered/defected genes.
- Via the fingerprint characteristic, the healthy embryo is detected and transferred to the woman’s womb during an IVF cycle.
What are the benefits of Karyomapping?
- It provides information across the entire genome.
- If can identify potential genetic disorders in the offspring.
- It can identify chromosomal errors that may cause miscarriage and implantation failure.
Karyomapping identifies the embryos with the best chance of pregnancy success hence, improves the live birth rates for couples accessing this treatment.