K is for Karyotyping

Sam Bowen's avatar

by Sam Bowen
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Karyotyping in layman’s terms, is the test which looks at a person’s genetic profile and tells you if there are any problems with their 23 pairs of chromosomes. It can be done by a simple blood test that costs less than £200.

But how many people would be prepared to do this?

How many people have this in mind when they knowingly or unknowingly conceive a baby?

Perhaps not that many.  Who wants to know that they are walking around with funny genes anyway?

Couples going though IVF however, are tested for lots of potential issues from HIV to Hepatitis, what difference would adding the Karyotype test to this list be? Shouldn’t this be a precaution when you know that you are trying to make a child and it hasn’t happened ‘naturally’?

For the even more sophisticated procedure called ICSI where a single sperm is injected into an egg to fertilize it, the risk of there being an underlying genetic cause for infertility is even greater.

Unfortunately in the UK testing for this via Karyotyping is not mandatory, it is yet another postcode lottery as some hospitals do the test and some don’t. You wouldn’t probably know to ask for this test if you didn’t know about it.

Karyotyping for ICSI couples is recommended in the the NICE guidelines (National Institute for Clinical Excellence) but the NICE guidelines are voluntary and hospitals are free to impose their own rules.

The fact is that most IVF treatment, even that funded by the NHS, is carried out by private clinics that are not governed by the NICE guidelines. They are ruled by the HFEA (Human Fertilisation and Embryology Authority) which has no set rules on this subject, only ‘guidance’.

The HFEA does recognise however that “children born as a result of ICSI are twice as likely to have a major birth defect and 50% more likely to have a minor birth defect.” So you would think that they took more caution with this treatment.

With 1 in 500 people being carriers of a balanced translocation (where some of their chromosomes are not in the right place) this poses a huge risk.

Parents only pass on half of their chromosomes during conception, which in a person with a balanced translocation means they have a 75% chance of causing problems when their missing or additional bits of genetic code are passed on.

The result is a child with an unbalanced translocation which causes disability or at best one with the same balanced translocation and therefore the same future infertility issues as their parent.

There is only 25% chance that all will be ok, I’m no gambler but I think those are high risk stakes.

Personally I know that had we had this information prior to treatment, we would have been better informed to make decisions. It’s not a closed gate to parenthood, there are other options to having your own healthy child with IVF even when a balanced translocation is causing the problems.

IVF is big business, it is expensive and the customers are often desperate for its services. It’s wrong to exploit this position though, to take unacceptable risks with people’s lives, to play Russian Roulette with their futures and those of the next generation.  

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