Genetic screening is available through a link with Oxford Fertility and Cooper Genomics. If you’d like to discuss the genetic diagnosis options available to you for your IVF cycle, please contact us.

Pre-Implantation Genetic Screening (PGS)

Chromosomal abnormality is one of the most common causes of unsuccessful pregnancy. If an embryo has too many or too few chromosomes (a condition called aneuploidy) this can have a serious effect on its chances of developing normally into a foetus and then a baby. In many cases, embryos with the wrong number of chromosomes stop growing by themselves, and this unfortunately often results in miscarriage.

PGS is testing the egg or embryo for the total number of chromosomes. A normal egg should have 23 chromosomes and a normal embryo should have 46 chromosomes (i.e. 23 pairs of chromosomes). The chromosome constitution of the embryo can be tested through PGS using NGS (Next Generation Sequencing) on the trophectoderm of the blastocyst.

 

How does PGS work?

The first few stages of an IVF cycle that involves PGS are no different from any other, you can see a full IVF journey here.

The difference comes in when the eggs have fertilised in the laboratory. The embryos are frozen at GCRM on day 5, then arrangements are made to transport these frozen in a special shipper to Oxford Fertility. The embryos are thawed and a few cells are microsurgically removed from each embryo, and taken for genetic testing. The cells are analysed to check the chromosomes, and the embryos are vitrified until the test results are available.

Scientists working in the laboratory carry out the PGS test on all of the samples received. The test results indicate how many copies there are of each chromosome, revealing any abnormal embryos.

The normal embryos are then arranged for transfer back to GCRM, to then undergo a frozen embryo cycle.

Pre-Implantation Genetic Diagnosis (PGD)

Genetic mutations, sometimes passed down from parents, are another cause of unsuccessful pregnancy. Pre-implantation genetic diagnosis is used when a serious genetic disease could be passed from parent to child. There are two techniques: karyomapping, and conventional pre-implantation genetic diagnosis. We are particularly pleased to be able to offer karyomapping as, unlike with conventional PGD, embryos can be screened for chromosomal abnormalities as well as a certain genetic mutation, thus increasing the likelihood of a healthy on-going pregnancy. Conventional PGD is used where the mutation is new and not present in either of the parents, or where we are unable to obtain DNA from other family members who have the same genetic mutation.

Pre-implantation genetic diagnosis can also help couples who have discovered that they have a balanced translocation or inversion. A special high-resolution array Comparative Genomic Hybridisation test can be used to select normal embryos.

How does PGD for a single gene disorder work?

The first few stages of an IVF cycle that involves PGD are no different from any other.

The difference comes in when the eggs have fertilised in the laboratory. The embryos are frozen at GCRM on day 5, then arrangements are made to transport these frozen in a special shipper to Oxford Fertility.

The cells are analysed for the gene disorder, and the embryos are either returned to the incubator or vitrified (frozen) until the test results are available. Scientists working in the genetic laboratory carry out the test on all of the samples received and provide the results 24 hours later.

The normal embryos are then arranged for transfer back to GCRM, to then undergo a frozen embryo cycle.

Key features of the single-gene PGD service

  • By its very nature, pre-implantation diagnosis helps parents avoid having to contemplate pregnancy termination
  • It’s available for virtually all single gene disorders*
  • These are the most advanced tests anywhere in the world
  • Karyomapping is available in most cases, providing ultra-rapid work-up and simultaneous detection of chromosome abnormalities
  • Extremely high accuracy rates

If you’d like to discuss the genetic diagnosis options available to you for your IVF cycle, please contact the clinic on 0141 891 8749

*Disorders must be licensed for testing by the HFEA.

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