Reproductive and genetic health

At CARE, we offer genetic testing options for your whole reproductive pathway, helping to build healthy families from the start. 

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 testing & screening options for your whole reproductive pathway - before conception, during IVF treatments and during early pregnancy.

What is Genetic Testing?

Genetic testing is a type of medical test that identifies changes in chromosomes, genes or proteins that can cause health problems. Chromosomal abnormality is one of the most common causes of unsuccessful pregnancy. There are two types of genetic testing;

  • PGT-A (also known as PGS) is used to screen embryos for imbalances in chromosome numbers.
  • PGT-M/PGT-SR (also known as PGD) is used to detect specific inherited genetic disorders/diseases that the family are at risk of.


Embryo Screening for Genetic Testing


Embryo screening is when embryos which have already been created are tested to check they are genetically healthy. This is important as, if embryos have a genetic abnormality, such as an incorrect number of chromosomes, there is a higher chance of pregnancy loss, miscarriage, or a baby being born with a genetic condition like Down's Syndrome. Through embryo screening for genetic conditions, our embryologists can be sure to only choose embryos which are genetically normal for embryo transfer, therefore increasing the chance of you having a healthy baby.

Embryo screening can be carried out during the IVF treatment process once embryos have been created in the laboratory. Once embryos have developed to blastocysts, our embryologists can carefully remove around 5 cells from each embryo in a process called an embryo biopsy. These cells can then be tested for the genetic conditions.

At CARE, we offer embryo screening to check embryos have the correct number of chromosomes (PGT-A) and to look for specific known genetic conditions, such as Cystic Fibrosis, through PGT-M.

Our Genetic Testing Services

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

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 from 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. If an embryo has too many or too few chromosomes (a condition called aneuploidy) it can have a serious effect on the chances of a healthy pregnancy.

One of the main reasons for recurrent 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 issue. We know that in 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. 

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

PGT-M is used when a serious genetic disease could be passed from parent to child. This type of genetic testing is for couples where there is 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.

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.

Karen Sage.jpg

Karen Sage was the UK's first Genetic Counsellor specialising in fertility and she leads the Genetic Testing 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

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