Translocation/Inversion PGD

PGD for Chromosomal Translocations:

Pre-implantation Genetic Diagnosis (PGD) is a method carried out on embryos created after IVF in which the genetic diagnosis of a known problem is diagnosed in either of the partners. For Example, the balanced translocations/inversions which can be carried by either of the partner. Early pregnancy losses in many couples who are suspected carriers is a consequence of these translocations.

Among the 5 percent of couples diagnosed with more than one miscarriage, one person accounts for a balanced chromosomal rearrangement. The perfect health of the carriers of the balanced chromosomal rearrangement often renders them unaware of the problem. The severity of this issue will only surface when 7 out of 10 times pregnancies result in miscarriage where one of the parents is a carrier of the balanced chromosomal rearrangement. Furthermore, 10 percent leads to chromosomally abnormal live births. The reason for this problem is the unbalanced chromosomal rearrangement developing in the embryos. A simple test known as Karyotyping can identify balanced chromosomal rearrangement. A rare form of chromosomal rearrangement, Robertsonian translocation occurs in five chromosome pairs known as acrocentric, or the chromosomes 13, 14, 15, 21, and 22.

When all the genetic information is present in the correct amount but not necessarily in the correct location or order, it is a balanced chromosomal rearrangement. These chromosomal rearrangements can occur during the development of egg, sperm or embryo. And also, these balanced chromosomal rearrangements occur as either translocations or inversions.