Use of Next-Generation Sequencing to analyze fetal tissue
1.What is the Products of Conception (POC) test?
Miscarriage is all too common in the human population, occurring in up to 25% of all recognized pregnancies. When it happens to us, we may want to know “Why?” and “Could this happen again?” Products of Conception (POC) testing is a genetic test that can provide information to help answer these questions. The majority of miscarriages are caused by chromosome abnormalities. POC testing is done on tissue from the lost pregnancy and evaluates the chromosomes.
The information from POC testing can be helpful for patients and physicians to understand the cause of miscarriage and to develop a plan to support a future successful pregnancy.
One of the major challenges faced with traditional POC testing methods is the ability to distinguish between fetal tissue and maternal tissue (maternal cell contamination, or MCC). Igenomix uses an innovative technology that combines the use of STR markers with Next-Generation Sequencing (NGS) for POC testing. This strategy can detect or rule out MCC with >99% accuracy.
Fetal versus maternal tissue is identified whenever possible. The use of STR markers to determine maternal/fetal origin of the tissue requires that a blood sample or cheek swab from the mother be submitted along with the POC sample. Multiple dissections are taken to increase the likelihood of obtaining fetal tissue. This strategy enables us to provide results for the pregnancy in almost all (>99%) cases.
2. Who should use POC testing?
POC testing can be offered to any couple suffers a pregnancy loss, and is especially recommended for couples who have experienced recurrent miscarriages or couples who undergo assisted reproduction treatments.
3. What are the advantages of using Igenomix for POC testing?
- POC testing with Igenomix does not require cell culturing, so there is no risk of culture failure.
- Accurate results are obtained in more than 98% of tests performed.
- Multiple dissections will be made in order to detect or rule out maternal cell contamination (MCC) with >99% accuracy.
- Results are available in less than 1 week.
- POC testing with NGS technology has greater resolution than the conventional karyotype.
- Igenomix will bill insurance and offers financial assistance programs.
1) How is the sample collected and shipped?
A fresh POC sample is collected from the D&C procedure. The sample is placed in the POC container
provided (with saline in the cup), labeled, and placed in the Igenomix kit. The sample can be stored in a cool location (4C) for up to 2 days and may be transported at room temperature.
2) Can POC testing be done on lost twin pregnancies?
Yes, POC testing can be done if a twin pregnancy has been lost. In this case, samples from each of the
fetuses would need to be collected and placed in separate containers.
3) What happens if the tissue is passed and collected at home?
In some scenarios, a sample from the miscarriage can be collected at home. This may not be possible if the miscarriage occurs very early during the pregnancy. If it is known that woman will miscarry, Igenomix can provide a cup to collect the sample. A fresh Ziplock back or clean plastic container such as Tupperware can also be used. The sample should be brought to the clinic as quickly as possible, and stored in the refrigerator until this can be done.