PGTune™ A Test Limitations

PGTune™ A cannot detect single gene mutations:

PGTune™ A does not analyze specific genes and cannot detect conditions caused by single gene mutations, such as Sickle Cell anemia, cystic fibrosis or Tay-Sachs disease. Any known genetic conditions in the family should be discussed with your fertility doctor.

PGTune™ A cannot detect uniparental disomy (UPD):

UPD is the presence of two copies of a given chromosome from one parent and none from the other. UPD for certain chromosomes is associated with particular genetic syndromes or medical, cognitive or physical disabilities. PGTune A is unable detect UPD.

PGTune™ A cannot detect very small imbalances:

PGTune™ A is designed to test for aneuploidy (whole chromosomes that are extra or missing). It can also detect partial aneuploidy, including deletions, duplications, and unbalanced translocations, depending on the size of the chromosome segment involved. Extra or missing chromosome segments, smaller than 10 MB, usually cannot be detected.

PGTune™ A cannot detect balanced structural abnormalities:

PGTune™ A cannot detect structural abnormalities unless there is an imbalance in genetic material. There are multiple chromosomal abnormalities, including but not limited to balanced translocations and inversions.

PGTune™ A cannot detect polyploidy:

PGTune™ A cannot detect polyploidy, in which there is a numerical change in a whole set of chromosomes. Polyploidy may arise from fertilization of an egg by more than one sperm (polyspermia), fertilization of a diploid egg, or fertilization by a diploid sperm.

PGTune™ A cannot detect all birth defects:

PGTune™ A cannot detect all potential birth defects and can only detect birth defects caused by aneuploidy and imbalances greater than 10 MB. There is a 3-5% risk in the general population of birth defects. These may be caused by genetic and/or non-genetic etiologies.

PGTune™ A Test Disclaimer

Misdiagnosis:

With each embryo sample analyzed, there is a chance for misdiagnosis. Misdiagnosis can be due to test error or due to mosaicism even when there is no testing error on the particular sample analyzed.

Misdiagnosis due to Test Error:  PGTune™ A testing cannot be precise cannot and will not be exact. There remains an empirically determined 1-2% chance of a misdiagnosis, either by a false negative or a false positive result. A false negative result will indicate an embryo has a normal number of chromosomes when, in reality, it contains a chromosomal abnormality. A false positive result will indicate an embryo is aneuploid when it is actually chromosomally normal.

Misdiagnosis due to Chromosome Mosaicism: Mosaicism occurs by chance during embryonic development and can cause a misdiagnosis if the cell(s) that is (are) biopsied and tested is (are) not representative of the embryo. By definition, PGTune™ A cannot detect mosaicism when only one cell or a few cells are biopsied and analyzed. To conclusively determine whether an embryo is mosaic, all cells of the embryo must be analyzed, which would result in destruction of the embryo.

No diagnosis:

There is a chance of unpredictable and uncontrollable problems with transportation, such as weather and air travel issues, or other circumstances beyond the control of our laboratories that would not allow results to be obtained in time for embryo transfer. There is also a chance that the sample received in our accredited laboratories is unacceptable for analysis and results cannot be obtained from the sample provided.

On rare occasions genetic testing cannot be performed on biopsied eggs or embryos due to improper biopsy techniques such as a) removing an anucleated cell; b) cell lysis during the biopsy procedure; c) cell loss during washing and transfer; and, d) unexpected technical problems during the procedure.

Some embryos will have no diagnosis, due to the loss of biopsied cells, or poor DNA quality (often found in damaged or dying cells). Embryos without a result may be aneuploid. Transferring embryos without a diagnosis or with an abnormal diagnosis may lead to an abnormal pregnancy.

Inconclusive results:

A statistical model is used to determine the number of chromosomes for each embryo sample. In some cases, due to degraded DNA, or unusual biological processes, or other unusual effects in a sample, the data will not conform to the statistical model. In these cases, the results will be reported as inconclusive.

No normal embryos:

There is a chance that all embryo samples tested during an IVF cycle will be found to have aneuploidy and no embryos will be suitable for transfer. Likewise, there is also a chance that an embryo sample will be found to be chromosomally normal but the embryo may not develop normally and will not be selected for transfer.

Follow up

PGTune™ A cannot guarantee the birth of a chromosomally normal child. Because of the chance of misdiagnosis, the inability to detect mosaicism and structural abnormalities, and the investigational nature, ongoing pregnancies resulting from PGTune™ A during IVF, should always be followed by prenatal diagnosis, either by chorionic villus sampling (CVS) at 10-12 weeks or amniocentesis at 15-18 weeks to confirm a chromosomally normal fetus. PGTune™ A should not be considered a replacement for prenatal testing. CVS and amniocentesis have higher accuracy than PGTune™ A and can evaluate mosaicism and structural abnormalities. Your obstetrician can perform these tests. If a pregnancy loss occurs, we recommend that chromosome studies be performed on the products of conception.

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