Genetic Testing of Products of Conception following miscarriage

Genetic Testing of Products of Conception following miscarriage

MUMS offer a service to women who miscarry a pregnancy up to 12 weeks - the opportunity to have the products of conception analysed, whether the miscarriage happens at home, in hospital or at MUMS. The tissue can be brought to MUMS in a sterile container.

The NHS offers this service but only after 3 miscarriages. Many women want to understand if there was a chromosomal cause for their miscarriage prior to this. MUMS offer this service regardless of the number of previous miscarriages and even if it is the first miscarriage.

Genetic testing is a commonly requested investigation where parents want the products of conception/miscarriage tissue analysed to reveal whether there is a genetic explanation for the miscarriage.

The cost is £550.00, and the turnaround time is approximately 4 weeks for results but can be delayed for up to another 2 weeks if additional testing is required.

We ask that you keep the tissue in a sterile, leak proof container and kept refrigerated until such time as you can bring it to MUMS.

We will package and label the tissue and send it to our partner laboratory in London for Genetic testing. We will ask for your consent regarding disposal of the tissue following laboratory analysis. You have the option of having the tissue returned to you or sensitive incinerated at the laboratory.

When our partner laboratory receives the POC sample, it is dissected to check for tissue that represents the embryo, this is either recognisable fetal or placental tissue.  

Unrecognisable tissue from a miscarriage has a high likelihood of being maternal in origin, genetic testing of this tissue will usually reveal the mother’s genetic result rather than that of the embryo. A small amount of tissue will be stored from this sample and a report released that explains the reason that this sample will not be processed. If you would like the sample processed despite the likelihood of a maternal result, then molecular testing can be considered.

A karyotype is a visual representation of the number and structure of all the chromosomes and provides a low-resolution screen for chromosomal variations. Karyotyping can identify:

• Missing chromosomes (aneuploidy)
• Extra chromosomes (aneuploidy)
• Large amounts of missing or extra DNA in a particular chromosome (large deletions and duplications)
• Chromosome rearrangements, where parts of chromosomes have broken and rejoined the same or other chromosomes (inversions and translocations)

To perform a karyotype, the cells need to be grown in culture, this usually takes 7-21 days. Once grown the cells are then treated so that they can be visualised by a highly trained cytogeneticist and aligned to the standard pattern. 

If the cells in the sample do not grow, then a molecular technique that looks at the DNA can be used. This assay can detect variants in the amount of DNA present and therefore detect missing and extra chromosomes. The benefit of this test is that the cells do not need to be viable in culture, so those samples that can not get a result through karyotype can still be tested.

Molecular testing takes a further 1-2 weeks, usually allowing the lab to get a result within the advertised time frame of 4-5 weeks. 

Overall, the success rate of this combination of testing is 95%, some samples may fail for both tests. 

If testing fails to return any result you will be refunded £480.00

We will share the results with you, and you will be offered a Free of Charge Consultation with our Consultant Gynaecologist to have them explained to you and the options you have – for example – parental chromosome testing, investigations for recurrent miscarriage etc.

The laboratory are experts in chromosome analysis. They do this to ascertain whether your embryo was affected by a chromosome abnormality or will confirm that the pregnancy was unaffected by chromosome abnormality – i.e. – has normal chromosomes.

MUMS will advise on the result if it shows there was a chromosome abnormality that requires parental studies as this may provide much needed answers and additional information.

It is reassuring to know that despite miscarriage, chromosome abnormality or parental balanced chromosome rearrangements – many couples go on to have successful unaffected pregnancies in the future.

We urge all patients to bring samples directly to MUMS Clinic so that we can ensure that it is delivered to the laboratory successfully. If you attempt to send a sample of this type via courier you must ensure that the courier is able to send samples of this type.

You can call us on 0121 704 2669 for more information. We have ample parking and great reviews.