Dr. Angeline Beltsos, MD is back with more Fertility Logia. This month, she discusses Preimplantation Genetic Diagnosis—what it is and why you need to know.
FERTILITY LOGIA: Preimplantation Genetic Diagnosis
Welcome back to Fertility Logia! I hope you’re finding these articles informative and useful. Information is key on this fertility journey. It gives you back some power over your situation, and shows you that there are other options.
This month, let’s discuss Preimplantation Genetic Diagnosis. Yes, it’s a mouthful, but this is critical information that you need to know on your fertility journey. You can’t afford to NOT know this. Read on.
5 must-know things about Preimplantation Genetic Diagnosis
1) What is Preimplantation Genetic Diagnosis (PGD)?
PGD is when an embryo is tested for genetic health BEFORE it is implanted or transferred into the uterus.
There are 2 kinds of PGD:
a. PGS (preimplantation genetic screening) or PGD-A – (Preimplantation Genetic Diagnosis- Aneuploidy) is a numbers game test.
- The goal is for the embryo to have 46
- Chromosome is the container where DNA is stored. The egg gives 23 chromosomes and the sperm gives 23 chromosomes which makes a new human being of 23 pairs which equals 46.
- “Eu” means good and “ploidy” means multiple in Greek.
- If there is extra or missing DNA it is called “aneuploidy testing”.
- The last 2 chromosomes are called sex chromosomes
- XX will be female
- XY will be male
b. PGD is Preimplantation Genetic Diagnosis (PGD) for Single Gene Diseases.
- The goal is for the embryo to not result in a baby with a disease from a gene mutation like Cystic Fibrosis.
- The mutation is found in one or both parents.
- If the embryo is just a carrier means it won’t have the disease or just have a very mild form of the condition.
- If the embryo is “affected”, it means that it would have the disease.
2) What are the chances that the test results are correct?
It appears to be the vast majority of the cases.
- Results are estimated to be 90-95% correct… but not 100%.
- The embryo is very small, like the size of a piece of dust, and therefore, getting an accurate result can be challenging.
- Misdiagnosis is when the result:
- Comes back normal but actually is abnormal.
- That means that the embryo actually does not have the exact genetic information that appeared on the test results and will not be healthy.
- Comes back abnormal but actually is normal.
- That means that the embryo actually was not going to be used and may have resulted in a healthy baby.
- Comes back normal but actually is abnormal.
3) How can PGS or PGD be done?
It requires In Vitro Fertilization where the egg and sperm are fertilized in the dish instead of the body.
- The woman takes fertility medicine for approximately 2 weeks.
- Eggs are retrieved from the ovary and placed with sperm.
- The embryo will grow for 5-7 days and when ready, the biopsy will be performed on the embryo where a few cells are removed from the outer layer of placenta cells.
- The embryo is frozen and the biopsied cells are sent for testing.
- A few weeks later, when the uterus is ready, the normal embryo is placed into the uterine cavity.
4) What are the advantages and disadvantages of PGS?
- PGS is done when the embryo is big enough to tolerate a pinch of cells being removed.
- There is added cost which includes the cost of biopsying and running the test.
- Insurance typically does not cover this additional step.
- It may or may not include the cost of freezing the embryos and the management of the PGS additional steps by the fertility team.
- The embryo is typically frozen while the results are obtained which can take 2-3 weeks.
- Frozen embryos overall have an excellent chance of surviving.
- Frozen embryo transfers often have higher success rates.
- The results are very accurate but not perfect nor 100%.
5) What if we don’t do PGS?
If PGS is not done, Mother Nature is left to do the test.
- Pregnancy rates
- drop dramatically with age.
- miscarriage rates increase with age.
- This is Mother Nature helping sort out normal versus abnormal.
- Embryos that are not healthy tend not to implant and those that do implant tend to miscarry.
- Once pregnant, there are ultrasounds and blood tests that check and confirm healthy chromosomes and DNA in a baby, as well as to check baby when born.
Fertility Logia: Is Preimplantation Genetic Diagnosis something you should consider?
There are new technologies of genetic testing that can be used to check the embryo health. Get educated, and know the options. Come to see us at Vios Fertility Institute and we can discuss this in more detail. Having a healthy pregnancy is so important and when trying to get pregnant. We’ll start with taking your Vios Pulse done to check the pulse of your fertility. With treatment, IVF and PGS are available as well to find your way to your dream of family. Remember, there are options!
Angeline N. Beltsos, MD is CEO and Medical Director of Vios Fertility Institute. She is board certified in Obstetrics and Gynecology and in Reproductive Endocrinology and Infertility (REI), practicing medicine since 1991. Dr. Beltsos is also the Clinical Research Division Director of Vios and participates in a number of research projects and scientific publications. She has received numerous awards in teaching and has been honored as “Top Doctor” from Castle Connelly for several years. She is a popular speaker, both nationally and internationally, and a frequent media resource on the topic of infertility. She is the executive chairperson for the Midwest Reproductive Symposium International, an international conference of fertility experts. Dr. Beltsos is also a contributor to Thrive Global.
As the REI Division Education Director for the Obstetrics and Gynecology residency programs of Illinois Masonic Medical Center, Lutheran General Hospital, and St. Joseph’s Hospital Chicago, Dr. Beltsos helps educate future OB/GYN doctors. She is a Clinical Assistant Professor for the Department of Obstetrics and Gynecology at University of Illinois at Chicago.
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