The ultimate guide to PGD testing: Candidates, costs, and more

Couples and individuals in the unfortunate circumstance of living with genetic diseases are often hesitant to start a family, questioning if their children will inherit it. However, with the advancement in assisted reproductive technology, they can now mitigate the chances of passing the diseases to their future babies. 

Let’s explore what preimplantation genetic diagnosis (PGD) testing is, and how you can benefit from this service when used in conjunction with in vitro fertilization (IVF).

What Is Preimplantation Genetic Diagnosis (PGD) testing?

PGD testing is a procedure used by your fertility specialists and doctor after your egg retrieval and fertilization, and before your embryo transfer in your IVF cycle. During PGD testing, your doctor will examine the embryos to identify genetic defects within embryos created during the IVF process. 

PGD is designed to detect specific genetic diseases that might be passed down to your biological child through the examination of DNA. By examining the embryos, your doctors can decrease the chances of genetic diseases (like HIV) from being passed on to your child in the event of a successful pregnancy. During this test, doctors separate the embryos containing problematic genes from those free from defects, which they then transfer to the uterus. 

Diseases commonly diagnosed through PGD include: 

• BRAC 1 & BRAC 2 genetic mutations
• Cystic fibrosis (CF)
• Duchenne muscular dystrophy
• Fragile X syndrome
• Hemophilia A
• Huntington’s disease
• Myotonic dystrophy
• Sickle cell anemia
• Spinal muscular atrophy
• Tay-Sachs disease
• Human immunodeficiency virus (HIV)

Candidates for PGD testing

The intent of PGD testing is to mitigate the risk of passing down genetic disorders or chromosomal abnormalities to your baby. If you and your partner have a recessive disorder, the chances of genetic inheritance in reproduction is 25%.

PGS testing is recommended for intended parents with known diseases, such as: 

• Women older than 37
• Intended parents with known inherited genetic diseases such as Cystic Fibrosis, 
• History of recurrent miscarriages due to chromosomal abnormalities 

The benefits of PGD testing 

The primary reason why intended parents chose PGD is to lower your possibility of passing on specific genetic diseases to children conceived, usually during IVF. By using PGD testing, you and your doctors can: 

• Identify and avoid fertilizing embryos that carry one (or more) genetic disease and conditions.
• Allow intended parents who are carriers of genetic disorders to conceive with a significantly lower risk of passing those disorders on to your children.
• Improve your chances of a successful pregnancy by transferring the strongest, best embryos into the uterus (thus preventing genetically flawed embryos from being transferred to the uterus).
• Reassess your decision to continue with pregnancy given the embryos available, as implantation has not yet occurred.
• Identify the sex of embryos and select which sex to implant (also known as gender selection at many fertility clinics). However, remember that playing with genes is like roulette - you can tip the odds, but it’s not guaranteed. 

It’s important to note that PGD is by no means a comprehensive test of all possible genetic diseases. PGD doesn’t eliminate the risk of having a child with the known genetic disorders for which the embryo tests. This form of testing is highly effective when reducing the risk of having such a child, but further testing may still be necessary during pregnancy.

If you’re considering PGD, you should also be prepared for the possibility that this procedure could reveal that all of your embryos are genetically flawed, meaning that none of them can be transferred to the uterus. And as heart-breaking as this is, your doctors will walk you through your best plan of action and get you back on track for a successful, healthy conception and pregnancy. 

 For intended parents with no known genetic disorders or diseases, preimplantation genetic screening (PGS/PGT-A) is more suitable for your needs, and can still allow you to examine chromosomal abnormalities and select sex (if desired). 

In general, most intended parents who are good candidates for PGD find that the benefits outweigh the potential downsides.

PGD testing success rates 

While there are not concrete results collected from the Center for Disease Control and Prevention (CDC), private research has shown PGD testing to increase success rates of IVF. 

According to one 2012 study with 229,096 ART cycles performed, 10,407 (4,5%) reported use of PGD. Focused on ART cycles between 2011 and 2012, the research found that PGD cycles showed a decreased odds of miscarriage among women ages 35 to 37 years, and women over 37. Additionally, PGD testing was associated with a 95% chance of clinical pregnancy, a 95% chance of live-birth delivery, and a 95% chance of multiple-birth delivery among women over 37. 

However, the study notes that PGD was not observed to be associated with an increased chance of clinical pregnancy or live birth for women less than 35. 

The cost of PGD testing

Like PGS/PGT-A, PGD is an additional stage of the IVF journey for intended parents that occurs before the long-awaited embryo transfer. PGD is performed to ensure that intended parents aren’t passing down any known genetic diseases to their children. Because PDG examines specific genes within your embryos, the process typically costs between $6,000 and $12,000. 

However, this will vary depending on your fertility clinic. At PFCLA, PGD testing costs $6,000 for up to eight embryos. For intended parents hoping to test more than eight embryos, you can do so for an additional $250/embryo. 

Learn More About the Benefits of PGD testing and your child

At Pacific Fertility Center, we strive to give our intended parents every advantage possible in their quests to expand their families. Our fertility specialists discuss preimplantation genetic diagnosis (PGD) benefits in detail during consultations. Many intended parents, especially those who are carriers of certain genetic disorders, elect to include PGD as part of their IVF treatment for their peace of mind. 

If you would like to learn more about the benefits of preimplantation genetic diagnosis, or PGD, or if you want to schedule your initial consultation with one of our fertility specialists, contact us today.