Karyomapping

Karyomapping, or so-called karyomapping, is a new technique for genetic diagnosis of embryos prior to their transfer into the uterus. Thanks to it, couples using the IVF procedure can avoid passing on to future offspring a mutation in a single gene they carry.

Karyomapping checks for about 300,000 single nucleotide polymorphisms (SNPs, or single nucleotide polymorphisms), i.e. changes within the basic components of human DNA. Each nucleotide is designated by a letter symbol A, T, C, G. Arranged in the correct order, the nucleotides form nucleotide sequences. These, in turn, determine the order of the 20 amino acids that make up proteins. Sometimes, however, a mistake will occur within a given sequence and a letter is replaced by another. Single nucleotide polymorphisms are just such “typos,” and karyomapping by identifying them allows us to detect monogenic disease. Using karyomapping, we can examine maternal, paternal or other family members’ chromosomes and, based on this, create a DNA “fingerprint” of the chromosome where the mutated gene is located.

In the first stage of the test, the parents or their closest relatives (usually another child of the couple) donate samples of their DNA (peripheral blood). The genetic material collected is then analyzed and compared with the embryo’s DNA. Using karyomapping, it can be assessed whether the embryo has inherited a piece of the genetic code with a mutation from either parent.

Why is it better?

First of all, karyomapping allows the human genome to be examined for a wide variety of single gene mutations in a very short time. The method also does not require any special preparations on the part of the clinic or changes to existing procedures. As a result, an infertile couple can proceed more quickly with the IVF procedure.