Pre-implantation diagnosis refers to sequencing the genetics of the embryo prior to the transfer. Next generation sequencing is really considered the gold standard and it’s the one that we use in our genetics lab at Monash IVF.

The process of obtaining the genetic material from the embryo is very highly specialised and it’s carried out in a lab by our scientists. The embryo needs to get to a certain stage of development, what we call a hatching blastocyst stage. Then using the very best of international techniques, the scientist will remove five cells from the embryo the area the embryo which is hatched freeze the embryo and with those cells, the DNA is amplified and then the genetics of the embryo can be tested.

We would use it for what we call aneuploidy screening just to determine if the embryo has 23 pairs of what’s called order zones or non-sex chromosomes, and two six chromosomes. We can also use it to determine if a specific genetic mutation is present. For example, cystic fibrosis would be the most common one that we would look for during Next Generation Sequencing.

Dr. Jenny Cook is a Fertility Specialist who works at the Monash IVF clinic. She has published widely in the area of Gynaecological Laparoscopy and has presented at many national and international meetings.She is recognised for her experience in laparoscopic gynaecological procedures. https://www.drjennycook.com/

Last Reviewed: 24/02/2021

Your Doctor. Dr Michael Jones, Medical Editor.

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