You were very unfortunate to have a Turner syndrome pregnancy. This is very rare with an incidence of 1:2500 pregnancies. The chance of recurrence in subsequent pregnancies is extremely low and does not warrant PGD. PGD does not exclude Turner syndrome as there might be more than one cell line in the embryo (mosaism) and as only a maximum of 2 cells can be analysed per embryo, it is still possible to miss the Turner syndrome. Another aspect is the fact that biopsied embryos tend to have a lower implantation rate than non biopsied embryos.(17% vs. 23%) Therefore, in view of your age, the fact that the recurrence rate is almost zero and the fact that PGD is not 100% accurate, I can see no reason to do PGD in your case.

- Week 19 answers kindly provided by Dr. Stephan Volschenk -

There are no statistics on this issue and will be very difficult to research as there are many reasons, other than biopsy, that can lead to embryo demise. What we do know is that the implantation rate per biopsied embryo is definitely lower than that of an embryo that has not been biopsied. (17% for biopsied vs. 23% for not biopsied) and that in older women, it may decrease the pregnancy rate. In a nutshell, PGS/PGD is just another tool that can be applied during ART , but it is definitely not the “holy grail” that everybody though it was going to be and like all things in life, does have its limitations. It does not improve the pregnancy rates and only shows a small decrease in the miscarriage rate.

- Week 11 answers kindly provided by Dr. Stephan Volschenk -

As explained in the previous answer, I think what you are actually referring to is PGS.(Pre Implantation Genetic Screening).This is where the embryo is biopsied, mostly on day 3, by removing a single cell for analysis. The drawback to this method of testing is the fact that only a few chromosomes can be tested for, usually the 7 – 9 chromosomes that statistically speaking, have the biggest chance of being abnormal. Therefore the embryo can only be given the green light for the few chromosomes that it was tested for and not the whole compliment of 46 chromosomes. CGH ( Comparative Genomic Hybridization) on the other hand is much more advanced from the point of view that one can do COMPLETE karyotyping at a single cell level, in other words all 46 chromosomes. This technique is relatively new technology and only available in a university research setting. It will however become commercially available in the not too distant future.

- Week 11 answers kindly provided by Dr. Stephan Volschenk -

PGD means “Pre Implantation Genetic Diagnosis”. Contrary to popular belief, this is not simply screening for a few possible common chromosomal abnormalities (rather known as PGS), but rather trying to diagnose a specific inheritable disease such as Cystic Fibrosis for example. These are therefore mainly for specific single gene defects. The embryo is mostly biopsied on day 3 during the 8 cell stage whereby a small hole is made into the shell surrounding the embryo, a single or sometimes 2 cells are removed and then analysed for a specific genetic defect.

- Week 11 answers kindly provided by Dr. Stephan Volschenk -