In this Episode, Dr Pat covers off the really important first step every couple can do before they start trying for a pregnancy. 

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Most women in the pre-pregnancy phase know to take folate supplements. Tick. They know that quitting smoking is for the best. Tick. Even stopping the glass of wine at the end of the day is on the radar. Tick.

What most don’t know is that we now have the ability to look closely at our genes, genes that are incredibly common in our population, and three genes in particular – Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA) and Fragile X syndrome (FXS).

So, what are your chances you carry the gene? Well, pretty high.

1 in 25 people carry the gene for CF (1 in 20 in Tasmania) and 1 in 50 are SMA carriers. The number of people who carry a FXS gene is unknown.

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These are important genetic diseases which many people are completely unaware that they carry in their genes. In fact, a study in Genetics in Medicine found a whopping 88% of couples are unaware they are carriers. 88%!

And when two carriers have a baby together, their baby can have the full disease.

[ A carrier is someone who has the gene for a disease but not the disease itself. They have no symptoms.]

I have seen firsthand the turmoil newly pregnant couples go through if they find out that their hoped-for child has one of these diseases. It is hard. There are really tough decisions to make. It has long-lasting impacts on their relationship. It breaks hearts.

So, let’s get armed with the facts.

Cystic Fibrosis (CF)

Is a severe condition affecting mainly breathing and digestion. People with CF need constant medical attention and have a decreased lifespan to about their 30s. In Australia 1 in 2500 babies is born with CF.

Fragile X syndrome

Is the most common form of inherited intellectual disability. It affects 1 in 3600 males and 1 in 6000 females every year with each child displaying various behavioural and physical disabilities.

Spinal Muscular Atrophy (SMA)

is a severe disease affecting muscles. It is rare, affecting 1 in 6,000 to 1 in 10,000 people. You may have heard this referred to as floppy baby syndrome. There are a few different types of SMA. Babies diagnosed with SMA usually have the most severe type and die before they are two years old.

Whoa. That just got very heavy.

Let’s get back to baby making.

So, your ducks are in a row, you’ve worked out when you are ovulating, you are in baby making mood.

STOP what you are doing.

I have absolutely no affiliation with this company (nor with ANY company, like most doctors) but I want you first to consider a PREPAIR test. This is a carrier test to see if you and your partner are carriers for CF, FXS and SMA.

I normally see women at about 10 weeks when they are already pregnant – and I can tell you that since carrier testing became available I have seen a grand total of ONE couple (yep – you heard right – one couple) who have had a PREPAIR test done before they conceived.

What I have seen instead is some couples in heart break. They’ve found out after they are pregnant or after the baby is born. It is not common that this happens, but I don’t want that for you.

Carrier testing is existing technology available to you RIGHT NOW and I think you deserve the opportunity to at least consider it before conceiving.

Get it done BEFORE you start trying

I recommended for EVERYONE to consider a PREPAIR test. It’s pretty much a must for couples with a family history of these diseases on either side, even in distant relatives.

Next step, go to your GP.

I am so keen on couples seeing their local doctor before they are pregnant.

That GP ( +  dentist ) visit gives your doctor a chance to talk to you about readiness for pregnancy. Things like the cervical screening tests (the new Pap Smear), rubella immunity, folate supplementation, Chicken Pox vaccination, assessment of an irregular cycle… the list goes on!

We cover all this in our next podcast as well as give you a link to a handy printable checklist to take to your doctor.

A PREPAIR test is done on blood or saliva. Your GP gives you a slip requesting the test and then you “buy” it online at vcgs.org.au/tests/prepair. The cost is $385 (as of today…) That is a spicy meatball I know but I reckon that is incomparable to the peace of mind you will get.

So far it is a consumer-pays system. Shop around as there are 5 other providers in Australia and my hope is that a consumer driven market will help to drive the costs down.

[And consider this a call out to the government to start subsidising the test. It would be great for government funding to keep up with the technology. But that is another topic for another day.]

Firstly, the woman is tested as Fragile X is only passed on by the mother. Men are then tested if the woman is found to be a carrier for any of the conditions. If you are both carriers, then you are at high risk of having a baby with one of these diseases.

So, what if you are both found to be carriers?

Couples in this situation would be advised to consider a process called pre-implantation genetic diagnosis (PIGD). This involves the couple having an IVF cycle where the embryos created are tested for the disease in question.

Some of the embryos will not be affected by the disease and can be safely implanted back into the woman. This largely eliminates the risk of having a child with the genetic disease carried by the parents.

[ This is not NIPTS or Harmony testing or Down Syndrome screening. I will write a blog on those very soon, babies dependent 😉 ]

What if the testing is normal? Well then, carry on and make that baby!

Dr Pat

So that’s it from me, short and sweet. All of this will be in our shows notes. If you haven’t subscribed yet, do that now so you know when our next episode hits. And if you have loved what you have heard, please tell a friend – we are on a mission to bring essential pregnancy information to every woman.

For more information about a PREPAIR you can find it here