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PGD
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PGD and PGS are highly specialized and delicate procedures which involve removing a single cell from a 3 day old embryo (8 cell stage) and testing it for chromosomal abnormalities prior to transferring these embryos into a woman. These abnormalities can be one of three types.
- Single Gene Disorders are those of known chromosomal origin where a single or multiple gene defect on a specific chromosome can lead to the presence of a certain disease in a fetus
- Translocation Disorders occur when pieces of chromosomal DNA break off and reattach to other chromosomes. In most cases these can lead to chromosomal rearrangements not compatible with life or result in repeated miscarriages.
- Aneuploidy Disorders occur when extra or missing chromosomes during fertilization and replication lead to significant genetic abnormalities such as Down’s Syndrome (Trisomy 21 or three copies of chromosome 21 instead of the normal two).
PGD and PGS techniques permit the selection and subsequent transfer of embryos which are less likely to have chromosomal abnormalities or free of a known single gene disorder, hence increasing the chances for a successful pregnancy, decreased risk of miscarriage, and healthy baby.
What Are the Steps With PGD/PGS?
Patients who need PGD or PGS will undergo a typical IVF cycle at Advanced Fertility Care. After the patients eggs are retrieved, they are fertilized with the husband’s or donor sperm in the laboratory. The lab waits for fertilization to occur and lets the embryos develop for 2 to 3 days into the 8 cell stage. At the 8 cell stage, our embryologist will remove one cell from each embryo (embryo biopsy) and fixation of the cells which will then be couriered to one of two reference labs for the chromosomal analysis. The embryo-specific results will then be communicated back to our embryologist prior to embryo transfer on Day 5. Dr Nathaniel Zoneraich will subsequently only transfer (and freeze if there are more than two) the blastocysts deemed genetically normal and healthy from the biopsy results.
Will I Need PGD/PGS With my IVF Cycle?
Not all patients that undergo IVF need PGD or PGS. There are a number of factors that help determine whether genetic embryo screening may be of benefit:
- Known family history for structural chromosome rearrangement or particular genetic diseases such as Cystic Fibrosis, Huntington’s Disease, and Tay Sach’s Disease. There are actually hundreds of known genetic diseases which we are able to screen for and this number is increasing all the time as the human genome project continues.
- Advanced Maternal Age: All women have a risk to have a pregnancy with a chromosome abnormality. This risk increases as a woman’s age increases. Prenatal diagnosis by chorionic villus sampling (CVS) or amniocentesis to test for chromosome abnormalities, such as Down syndrome, is also available post conception, however, PGD/PGS enables patients to determine risk prior to implantation of embryos.
- Recurrent Pregnancy Loss: About 50% of first trimester miscarriages are due to a chromosome abnormality. This may be related to a woman’s age or a rearrangement in a parent’s chromosomes that predisposes the couple to conceive pregnancies with chromosome abnormalities. PGS can be performed for either of these possibilities.
- Prior Pregnancy With Chromosome Abnormality: Patients that have had a previous chromosomally abnormal pregnancy have an elevated risk for a similar problem to occur again in any subsequent pregnancy regardless of maternal age.
- Several Failed IVF Cycles: Some cases of IVF failure are due to the transfer of embryos with chromosome abnormalities. PGS for aneuploidy minimizes the likelihood of a chromosome abnormality in a future pregnancy and increases the chance of achieving an ongoing successful pregnancy.
- Family Balancing (also known as Sex Selection): For families that wish to have additional children of a particular gender after already having a previous child, PGD allows for selection of embryos to transfer based on gender. While not perfect, embryo biopsy with genetic chromosome determination prior to transfer of embryos can allow families choice in how they expand the family.
The most advanced genetic laboratories which are utilized by Advanced Fertility Care can now screen a single cell for abnormalities on all 23 chromosomes which can provide information on translocations (abnormal placement of chromosome materials) as well as aneuploidy (abnormal number of chromosomes).
While a great tools in reproductive medicine, PGD and PGS are not foolproof and not ideal for all situations. In your consultation, Dr. Zoneraich will discuss the pros and cons of utilizing this advanced genetic testing as it pertains to your specific circumstances.
Costs of PGD/PGS
Due to the significant technical expertise required to perform an embryo biopsy and the added time it takes for the embryologist to perform these procedures, there is a significant cost added to the overall cost of an IVF cycle. See PGD Pricing In addition, the individual laboratories that provide the genetic analysis will add an additional charge which can range from $2500 upwards of $4000 depending on the type of testing required.