Reproductive and Genetic Health

Building Healthy Families - genetic testing options for your whole reproductive journey

Our whole ethos at CARE Fertility is to help people have a healthy family. For nearly 20 years, our teams have pioneered the use of Reproductive Genetics techniques, making it possible to test embryos and identify the ones with the correct number of chromosomes, or test for specific genetic diseases before the embryos are implanted.

 

We offer genetic screening options for your whole reproductive pathway - before conception, during IVF treatments and during early pregnancy.

Patient support

When you have genetic testing at CARE Fertility you have access to the support of a multidisciplinary team. Karen Sage, our Genetics lead, was the UK's first Genetic Counsellor specialising in fertility and she leads the Genetic Service at CARE Fertility. Working closely with the clinical and scientific teams at CARE, Karen is developing CARE's innovative work in genetics and a Centre of Clinical Excellence, alongside world-class pioneers in this field.

Our genetic testing services

Pre-conception carrier screening

Sometimes children are born with serious life threatening genetic conditions. For example, Cystic Fibrosis is carried by around 1 in 25 people and if two of these people have a child together, there is a 1 in 4 risk of that child having this serious condition. Genetic conditions such as Spinal Muscular Atrophy are carried by around 1 in 40 of the population. At CARE, we offer a simple test which you can have before you even try to conceive. This test, Carrier Screening, allows us to look for over 300 genetic conditions that an individual might carry. If we find that both partners carry the same gene condition then during IVF treatment, we can assess each embryo to select one free of this disease. This is called called PGT-M (see later for more details on PGT-M). 

PGT-A (Pre-implantation Genetic Testing for Aneuploidy)

Aneuploidy means that the number of chromosomes in a cell are incorrect. For example, a human cell having 45 or 47 chromosomes instead of the usual 46 is aneuploid. We can use PGT-A to test embryos and identify whether they have the right number of chromosomes. PGT-A is a process where we take a few cells form an embryo during an IVF treatment cycle and test them to see whether the embryo has the correct number of chromosomes to create a healthy pregnancy.

One of the main reasons for recurrent pregnancy loss and miscarriage is that the embryo isn’t chromosomally healthy. It is not uncommon for human embryos to be aneuploid, so PGT-A is effective at identifying the. We know that in older women over the age of 40, for example, that 90% of IVF embryos will be chromosomally abnormal. So the group of patients who benefit most from PGT-A are women with advancing maternal age and those who have had recurrent pregnancy losses. 

NIPT (Non-invasive prenatal testing)

Not all patients will opt for PGT-A or it just might simply not be available if for example you are having NHS funded treatment, if that’s the case, we can still check that your pregnancy is healthy by offering a test in early pregnancy - this is NIPT. This test is performed at around 10 weeks of pregnancy by a simple blood test. The benefits of NIPT are that it gives you early reassurance that your pregnancy isn’t affected by chromosomal problems such as Downs Syndrome of Pataus Syndrome or Edwards Syndrome (all aneuploid conditions). There are no risks to the baby with NIPT because we are taking blood from the mother and we are looking for fetal or baby cells within her circulation to check that they are chromosomally normal.

PGT-M (Pre-implantation Genetic Testing for monogenic/single gene defects)

PGT-M is for those couples where we are looking for a known genetic condition, such as Cystic Fibrosis. It involves testing embryos created during an IVF treatment cycle and then transferring unaffected embryos.

PGT-M tests are created uniquely for each family. PGT-M can be performed for nearly any single gene disorder as long as the specific mutation has been identified and appropriate family members are available for test preparation.

Karen Sage.jpg (1)

Karen Sage is the UK's first Genetic Counsellor specialising in fertility and she leads the Genetic Service at CARE Fertility.

Everyone who wants to have a baby hopes it will happen easily. But it doesn’t always go to plan. Around 1 in 4 women experience recurrent miscarriage. And although most babies are born healthy, genetic diseases are not uncommon. In fact, a significant proportion of childhood birth defects or adult onset chronic illnesses are due to genetic conditions, many of which are hereditary.

Our aim is to offer people the reassurance before and during fertility treatment, or once they are pregnant,  that we have explored every option for them to have a healthy family.

We really are with you every step of the way.

Pre-implantation testing

Pre-natal testing

Helpful resources for you