As promised, here is the letter Dr. W. sent on our behalf to Dr. G. It’s been edited to remove personal information.
Read more: The LetterDear Dr. G.,
Thank you for your referral of Julie and her husband Nicholas whom I consulted with on 8/8/2022. Julie and Nicholas had spoken with a genetic counselor at Kaiser and wanted another opinion regarding the finding of two abnormal translocations on the blood leukocyte karyotype on Nicholas — a translocation between the long arms of chromosome 8 and chromosome 11 and a Robertsonian translocation between the long arms of chromosome 13 and chromosome 14.
Julie and Nicholas have gone through one IVF cycle and shared the results of the cycle. Twelve eggs were retrieved and nine fertilized:
- Four embryos progressed to day 3
- Three embryos progressed to day 5
- Two embryos showed a +8 and a -11 chromosome
- One embryo showed a deletion of chromosome 15
No embryos were available for transfer with their first cycle.
Understandably, both Julie and Nicholas were disheartened by the results and were trying to decide how to proceed as they did want to pursue their desire for children. They also were concerned about the financing of their required care and Nicholas suggested they take a break before attempting pregnancy again.
We discussed that spontaneous pregnancy was still a possibility and should that occur, we strongly recommend prenatal testing. We discussed some of the benefits and limitations of Maternal-fetal DNA testing performed on maternal blood after 9-10 weeks gestation, early ultrasound, and the option of chorionic villus sampling (CVS) at 11-14 weeks gestation or amniocentesis at 15-18 weeks gestation. Julie asked whether the possible outcomes of an unbalanced translocation, e.g. duplication or deletion of a portion of chromosome 8 or 11 or a deletion or addition of chromosome 13 or chromosome 14 might result in a child with minor or treatable problems.
We discussed that significant gain or loss of chromosomal material often resulted in significant problems for the child and would result in loss of the pregnancy, organ abnormalities, and/or developmental delay. We briefly discussed that Nicholas’s chromosome 8;11 translocation involved a significant amount of the long arms of those chromosomes which could result in gain or loss of significant information affecting a child. However, depending on the finding, it may or may not be possible to predict the impact on any particular child. I did review with them some of the specific implications of gain or loss of chromosomal material which could occur with Nicholas’s translocations.
We spent approximately 90 minutes together and it was difficult for both Julie and Nicholas. Nicholas expressed his strong desire to attempt one more IVF cycle. If that was unsuccessful, he was open to the possibility of the use of donor sperm.
I did express my personal opinion that since abnormal sperm are usually less likely to fertilize an ovum, less likely to implant, and less likely to go to term, that I believe their outcome from their first cycle of IVF was not what I would have anticipated and a try at another cycle of IVF was reasonable. I did ask them to get Dr. G.’s opinion as well.
Julie mentioned that the counselor at Kaiser was unable to give them their chances for a healthy pregnancy in a male with two translocations and I agreed with that opinion. Also, I was reluctant to quote a percentage possibility for a successful normal pregnancy. I also did share some information from the literature suggesting that IVF with Preimplantation Genetic Diagnosis (PGD) did increase the possibility of a take-home baby rate and a reduction in miscarriage rate particularly in patients with a Robertsonian Translocation between chromosomes 13 and 14.
Julie had also asked about the hereditability of myeloid leukemia which occurred in an uncle. We spent most of our time discussing the ramifications of pregnancy risk. I mentioned that most cases of myeloid leukemia were sporadic and not familial but one gene (CEBPA) was implicated in some familial cases. I mention that myelodysplastic panels were available and we could recommend testing on the affected individual first if desired.
Thank you again for this referral. Julie and Nicholas did express their understanding of the information that we shared during our discussion. I encouraged them to meet with Dr. G. to get her opinion as to how to proceed.
If you have additional questions, please let me know. I have sent a copy of this letter to Julie and Nicholas.
Sincerely,
Dr. W.
I know it’s a lengthy letter, with a lot of technical info, but I thought it’d be helpful to post. I did my best to capture the essence of our conversation in the last blog, but the full letter is worth reviewing too.
As I mentioned last week and Dr. W. alluded to, Nick and I left this appointment with a clear path forward. We both felt that maybe parenthood wasn’t as out of reach as we originally thought.
IVF That 