Janine Elson: Improving IVF with genetic screening

Hi I'm Janine Elson, I'm the Associate Group Medical Director at CARE Fertility So the whole ethos of CARE Fertility is to help people have a healthy family

Sometimes unfortunately children are born with serious life-threatening conditions For example, cystic fibrosis might be carried by 1 in 25 people and conditions such as spinal muscular atrophy we find in 1 in 40 of the population One of the things we can do at CARE Fertility is that we can offer a blood test to couples that they can have done before they even try to conceive So the test that is available is something called a carrier screen and what a carrier screen does is it allows us to look for over 300 genetic conditions that an individual might be carrying So the benefits of carrier screening are that if we find that both of a couple carry the same gene condition then they can have something called PGD or pre-implantation genetic diagnosis and what it involved is testing the embryo that we make through an IVF treatment cycle to ensure that that embryo is free of the condition

So one of the things that people get confused about is the difference between PGD pre-implantation genetic diagnosis and PGS or pre-implantation genetic screening What PGS does is that looks to see if the embryos are chromosomally normal so to make sure that they have the right number of chromosomes and therefore can create a healthy pregnancy Whereas PGS pre-implantation genetic diagnosis is for those couples where we're looking for a known genetic condition So pre-implantation genetic screening is a process whereby we take a cell from an embryo during an IVF treatment cycle and test those cells to see if the embryo is chromosomally abnormal So that is to make sure that it has got the right number of chromosomes that it needs to create a healthy pregnancy

The main reasons for having recurring pregnancy loss and miscarriage is if the pregnancy isn't chromosomally healthy We know that in older women over the age of 40 for example, that over 90% of the embryos that they create in treatment will be chromosomally abnormal So the group of patients that would benefit most from PGS are older women and those who have had recurrent pregnancy losses What PGS allows us to do is it allows us to work out which of their embryos has the correct number of chromosomes and therefore which is the most likely to create a baby So PGS probably isn't the treatment to have if you're in your first cycle of IVF but if you are a couple that have had a history of recurrent pregnancy losses then we would want to talk about PGS with you because that might well benefit you

So not all patients may opt for PGS or PGS might simply not be available to them if they have NHS funded treatment, if that is the case we can still check if their pregnancy is healthy by offering them tests in early pregnancy So the test that we offer in early pregnancy is NIPT or non-invasive prenatal testing That's a test that is done at around 10 weeks of pregnancy and it's done by a simple blood test The benefits of non-invasive prenatal testing are that it gives you early reassurance that your pregnancy isn't affected by a chromosomal problem such as Down's syndrome, Patau's syndrome, or Edward's syndrome There are no risks to the baby with NIPT because what we're doing is we're taking a blood test from mum and we're looking for foetal or baby cells in her circulation to check that they are chromosomally normal

So I believe that we at CARE Fertility can offer people the reassurance before treatment, during treatment, and once they're pregnant that we really have explored every option for them to have a healthy family We really are with you every step of the way


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