PGD is available for most inherited structural chromosome abnormalities that were identified through a karyotype (chromosome study on blood). However, the ability to offer chromosomal PGD is dependent on the particular chromosome rearrangement in the parent and on the technologies that are available.
What are the steps of the PGD process?
1. Consultation with our team.
2. Complete fertility testing.
3. Case review by the PGD lab.
4. In Vitro Fertilization.
5. Embryo biopsy.
6. Embryos are frozen.
7. PGD and CCS testing.
8. Results available.
9. Transfer embryo(s) to uterus.
10. Additional embryos are stored for future use.
Is the embryo biopsy safe?
In embryos that have developed to day 5 or 6 (blastocysts), we can see the difference between the inner cell mass (cells that will make the baby) and the trophectoderm (cells that will make the placenta). We are able to safely remove cells from the future placenta without disrupting the baby-making cells. The experience and expertise of the embryologists is very important in minimizing risks to the embryos: <1% of the >10,000 embryos we have biopsied since 2010 did not survive the biopsy. We also believe the long-term risks of blastocyst biopsy to the embryo, pregnancy, and baby to be acceptably low.
Why is the day on which the biopsy is done important?
When genetic testing of embryos first became available, embryos were tested on day 3 at the “cleavage” or 8-cell stage, and only 1 cell was removed for analysis. Now, biopsy techniques and genetic testing methods have evolved to allow for testing on day 5 or 6 of embryo development. ORM only offers testing at this later stage because it is associated with better implantation rates; the ability to biopsy placental (not fetal) cells; and better reliability of genetic results.
How are embryos genetically tested in chromosomal PGD?
Most times, next-generation sequencing technology can be used to count chromosome fragments and detect large chromosomal imbalances in embryos. Additional genetic test methods may be necessary for cases at risk for smaller chromosome fragments that are difficult to diagnose with the usual technologies.
How do you “make a probe?”
“Probe” is a somewhat outdated term referencing an older technology that required development of an actual, physical DNA probe that was then used to test embryos. Today, the PGD pre-test process is more a matter of the PGD reference laboratory reviewing the particular chromosome change for which the embryos are at risk in order to be sure that an accurate PGD test will be available. The ability to offer accurate PGD is influenced by the specific chromosomal rearrangement in the patient and the technologies that are available to identify “unbalanced” embryos. In most cases, this can be determined within just a few weeks of our clinic submitting the patient’s karyotype (chromosome report) to them, and then the IVF cycle can be planned. This ensures– before an IVF cycle is begun – that an accurate PGD test will be possible. The good news is that in the vast majority of cases, a PGD test can be successfully created and the IVF cycle can move forward.
What is the accuracy of PGD?
Generally the accuracy of PGD is >97%, but the specific accuracy may vary depending upon the particular chromosome abnormality being tested. More detailed information about your particular PGD test becomes available from the PGD laboratory following the PGD lab case review.
Do you recommend CCS (chromosome screening of the embryos) along with PGD?
Yes. Due to the high rate of chromosome abnormalities in embryos (30-80%, depending on maternal age), even from healthy, young, or fertile individuals, CCScan provide valuable information and help us find the embryos that are most likely to result in a successful pregnancy. Therefore, ORM always performs CCS in conjunction with PGD cycles. Chromosomal PGD and CCS tests can be done simultaneously on the same biopsy, usually using the same technology, and adding CCS to a PGD IVF cycle does not change the overall process or the timeline for results.
Does PGD replace prenatal testing?
Not necessarily. While transferring an embryo that has tested “normal” by PGD is expected to significantly reduce the chance for the future baby/child to have the chromosome abnormality in question, it does not entirely eliminate the risk. Invasive, diagnostic prenatal tests such as chorionic villus sampling (CVS) and amniocentesis are generally considered to be more accurate than PGD (often >99%) and are recommended for those who wish to confirm PGD results in the ongoing pregnancy. Whether or not to have prenatal testing is a personal decision that we recommend discussing in depth with your prenatal provider and a prenatal genetic counselor.
How do I get started with chromosomal PGD?
We recommend making an appointment for a new patient consultation with one of our physicians to start. You are also more than welcome to email one of our genetic counselors with any initial questions about your specific situation prior to making an appointment.