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Deciding How to Have a Family When Carrying a BRCA Mutation

02 Jun 2017 by Krystal Barter
Deciding How to Have a Family When Carrying a BRCA Mutation

Pink Hope Outreach Ambassador Alex shares her personal experience of undertaking Preimplantation Genetic Diagnosis (PGD) which is a reproductive technology used with an In Vitro Fertilization (IVF) cycle. PGD can be used for diagnosis of a genetic disease in early embryos prior to implantation and pregnancy. Alex and her husband chose these procedures to ensure their children did not inherit Alex’s BRCA gene mutation.

My husband and I really struggled at the start determining the best option for having our family. We both felt strongly that if there was a way that we could ensure our children would not inherit a BRCA gene mutation then we wanted to investigate this thoroughly.

Women who carry a BRCA mutation have up to a 65% risk of developing breast cancer up to age 70 and up to a 45% risk of developing ovarian cancer up to age 70. Men who carry a BRCA mutation have an increased risk of breast cancer (up to 7% over their lifetime) and prostate cancer (up to 15% over their lifetime). There is a 50% likelihood of a BRCA gene mutation being passed onto a child.

To reduce my risk I chose to have a risk reducing double mastectomy with reconstruction. After completing my family I plan to have my ovaries and fallopian tubes removed. These are wonderful options to reduce my risk but are quite invasive surgeries and something I would prefer my children not to have to consider undertaking.

Some things I found in my research

There is a 25% chance of having a female child with a mutation. By the time these children are at an age where they need to manage their increased risk the options to do this may have changed and improved, such as medication options. Risk reducing surgeries will also most likely have improved.

Non-Invasive Prenatal Test (NIPT) is is a screening test for identifying pregnancies at increased chance of having a chromosome condition such as Down syndrome, Edwards syndrome and Patau syndrome. This blood test can also test for gender results can be made available at nine weeks. This might be an option for those who would consider keeping a male foetus regardless of its mutation status. The benefit of his option is that you can find out the test results sooner, and hence take action sooner.

You may then consider Chorionic Villus Sampling (CVS) on only female foetuses. CVS is a prenatal test that diagnoses chromosomal abnormalities such as Down syndrome, as well as a host of other genetic disorders. The doctor takes cells from tiny fingerlike projections on your placenta called the chorionic villi and sends them to a laboratory for genetic analysis. It is also worth noting that there is a cost involved with CVS which we found to be about $520 ($210 back from Medicare) and the pathology costs were over $650.

If CVS is the option you choose, it is advised that you start the pathology (collection of your DNA and testing for the markers) before you fall pregnant as this may take the laboratory a while and you may run out of time to have a termination if that is what you choose.

Personally CVS and Amniocentesis (also referred to as amniotic fluid test) was the first option I considered. However when I explored this option and made some calls to the appropriate doctors I found a lot of hurdles. The pathology (SEALS) that would/could potentially run the genetic test on DNA collected in CVS apparently needs approval from the genetic doctors to give out these results. The genetic doctors will only give approval if you can justify your reasons for having a CVS. Such as you are determined to have a termination based on the results. This board approval would take time, and should be sought out before pregnancy.

Basically the CVS option sounded reasonable to me in the beginning and certainly cheaper than IVF but I would like to find anyone in Australia who has been able to do it and ask them how, because I couldn’t find a way. As it turns out, I’m really glad I didn’t take this option as termination of the pregnancy would need to be quite late. The CVS would take place at around 12 weeks and unless the laboratory is prepared with your pathology and markers ready to go, the results could take a few weeks. At which point you could be having a termination around 16 plus weeks.

Of course it should be noted, that none of this testing is necessary if you would not consider terminating a pregnancy based on the results.

Some Tips

  • Get a referral from a GP to the IVF doctor not a specialist as it will last longer.
  • Specify with your IVF doctor if you would like to test gender as well as the mutation. It could come down to slim pickings in which case a male carrying the mutation may be your best option, it is important to know the gender in this situation.
  • It should be noted that IVF Australia will transfer a known mutant (ie male with a mutation) where as Genea will not transfer a known mutant (regardless of gender). This has been approved by their Board of Ethics.
  • As soon as you decide this is the right option for you, book in. It takes time, so get started. You will also need to be not traveling for a few weeks whilst they do the hormone treatment which involves blood tests and scans every three days followed by the surgery to collect your eggs. Then more hormone treatment, blood tests and scans the following month when they are preparing your body to put the embryo back in.
  • The younger you are (and your eggs are) the better chance you have of success. We already stood to lose approximately 50% of the embryos due to the gene mutation, then there is a big chance I would lose embryos through the rigorous five day testing process, then more due to chromosomal abnormalities (great that we can test this before they miscarry), then the chance of losing embryos through the freeze/thaw process and then the chance of losing them through the transfer process! So the odds were stacked against us. Anyone considering this option should approach it knowing the success rates.
  • We went into this hoping to get one successful embryo without the mutation from a cycle. If you get more embryos that make it through everything and that don’t carry the mutation and you are able to freeze for future children – you are extremely lucky.
  • Because the odds were stacked against us, we sought out the most reputable doctor believing experience does count. We also opted in for everything – embryo glue, acupuncture, hormonal support. We did it all and believed it helped.
  • We felt it was worth testing if one of us (you both have to be carriers to pass it on) for cystic fibrosis ($450) which is another out of pocket expense. We felt it was not worth going through all of this if our child would inherit cystic fibrosis.
  • Whilst you don’t get any benefits from insurance or Medicare for PGD, you do of course get IVF assistance from Medicare and from insurance if you have the appropriate cover.

It was tough, medically and emotionally, and it was expensive but we felt this was the right way to grow our family. We became proud parents to our beautiful daughter in 2015 and I am now pregnant with our second baby.

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