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Preimplantation Genetic Diagnosis for Lynch Syndrome

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Having read her story, I feel really proud for all the work we have done for the last 30 years for PGD and I wish all the best to Gene.

Jean Hannah Edelstein is an American journalist and author who shares on The Guardian her stories about her IVF and Preimplantation Genetic Diagnosis experience.

Explaining what the miracle was about, she wrote about the pre – implantation genetic diagnosis testing (PGD) that Doctor Elena Kontogianni, Professor Alan Handyside and Professor Robert Winston were the first to achieve 30 years ago. On that note, she feels a great gratitude and joy to watch this procedure being widely applied nowadays and helping couples embryos without the genetic disease in question.

In Jean’s case, it was about Lynch syndrome. As the mom – to –be notes, “to pinpoint exactly the mutations on the Lynch gene, in order to identify it in our embryos, the lab requires not just my DNA and E’s (her husband), but also samples from my closest genetic relatives.


The second round of egg retrieval and fertilization is far more successful: it yields five testable embryos, which means that we have a total of seven, and we’re ready to send them to the lab.

The lab confirms that the DNA samples have been collected and that they’re ready to set up the probe. Then we wait. We wait some more. I spend time getting the Lynch cancer screenings that I have once or twice a year in anticipation of not being able to get them during pregnancy: an endometrial biopsy. A colonoscopy. Thankfully, they’re clear.

At last, one afternoon, my phone registers a voicemail from the genetic counsellor. All seven of your embryos are negative for the gene.

I allow myself to feel real hope”.



Handyside, A.H., Kontogianni, E.H., Hardy, K. and Winston, R.M.L. (1990). Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature, 344, pp 768-770.

Handyside, A.H., Kontogianni, E.H. (1991). DNA analysis of gametes and embryos. Workshop No II. In “Proceedings of the First Symposium on Preimplantation Genetics”, pp 142-145. Plenum, New York.

Kontogianni, E.H., Hardy, K. and Handyside, A.H. (1991). Co-amplification of X- and Y-specific sequences for sexing human preimplantation embryos. In “Proceedings of the First Symposium on Preimplantation Genetics



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