PGD for Chromosome Imbalances United Kingdom

Preimplantation Genetic Diagnosis for Chromosome Imbalances (Translocations) — Patient Information

PGD (preimplantation genetic diagnosis) bundle costs £4000 — £5140 — £6140. The cost depends on the PGD package that is chosen & if there are more than 8 embryos, fee for each additional sample — £250

PGD for Single Gene Disorder Biopsy, testing & Development Fee (1–8 samples) — £4000

PGD & Array CGH for Single Gene Disorder Biopsy, testing & Development (1–8 Samples) — £5140

Fee for Each Additional Sample — £250

Preimplantation Genetic Diagnosis (PGD) combined with IVF/ICSI allows the selection of embryos that are chromosomally normal or balanced for embryo transfer (ET) in patients where the male, female or both have been diagnosed as having a translocation. Only the unaffected embryos are transferred to the womb thereby greatly reducing the chance of miscarriage and increasing the chances of a successful pregnancy and live birth.

PGD for translocation is available at Newlife and is offered to couples where a chromosomal rearrangement has been identified in either partner.

What are chromosomes?

Chromosomes are minute rod shaped structures that exist in virtually every cell of the body. Each cell should have exactly 46 chromosomes (23 pairs). Following fertilization normal embryos receive 23 chromosomes from the sperm and 23 chromosomes from the egg. If the embryo is missing a chromosome or has an extra chromosome the embryo is aneuploid.

What is a translocation?

A translocation occurs when a chromosome is paired incorrectly and pieces of the chromosomes are exchanged and switch places. This can mean that the wrong genes may be switched on or off in an embryo. Individuals that carry chromosomal translocations are normally healthy but have increased likelihood of experiencing infertility, miscarriage, stillbirth or having a child with birth defects. Individuals that carry balanced translocations contain all of their genetic information however parts of their chromosomes have switched places. These individuals may produce balanced embryos but will almost certainly produce embryos that are unbalanced and have effectively lost or gained pieces or entire chromosomes. The net result of this may be comparable to monosomy or trisomy of certain chromosomes.

Why look at chromosomes in embryos?

PGD for chromosomal translocations is able to distinguish between chromosomally normal and abnormal embryos. Currently, this is the only way to determine whether the embryo is chromosomally normal or “balanced”, prior to pregnancy. PGD can allow the laboratory to select those embryos that are known to be either “balanced” or normal, thus avoiding achieving a pregnancy with an unbalanced set of chromosomes and greatly reducing the chances of miscarriage or having a baby with mental retardation or birth defects.

How can we test embryos produced using IVF to see if they are chromosomally normal or ‘balanced’? Over the years, several different methods have been utilized for screening of chromosomes in embryos. To enable the screening of these chromosomes, cells must first be removed from the embryo; a process called embryo biopsy. At Newlife, the biopsy procedure is performed at the blastocyst stage as this has been shown to yield the most accurate results.

Does PGD carry any risks for my embryos?

There is a small risk that an embryo may not survive the biopsy procedure, but this is generally less than 5%. Additionally, as blastocysts are often cryopreserved after the biopsy procedure, there is a small risk that the embryo will not survive the cryopreservation procedure. Again this risk is very small, typically less than 5–10%.

Furthermore, about 5% of the embryos tested do not give a result. Embryos without a result can still be transferred, but it will not be possible to say whether or not they have the correct number of chromosomes.

Does PGD replace the need for routine prenatal testing?

Although PGD is likely to reduce the risk of having a pregnancy affected by a chromosome abnormality, they are not 100% accurate and therefore cannot guarantee it. For this reason, we strongly recommend that you have a prenatal test, if it is recommended to you by your doctor. This will provide a more definitive diagnosis