Skip to main content

What is PGS/PGD and Who Should Get It Done?

|

It’s a pretty safe bet that in every aspect of life, the thing people desire the most is certainty. Sure, there are exceptions to this rule, but more often than not people want to know that they’re making a safe decision or that there will be a positive outcome to the action they are taking. That’s pretty abstract, so let’s talk about certainty in regards to starting a family. Every parent to be wants as much certainty as possible that their future child will be as healthy as possible with no foreseeable complications. While no one is born perfectly healthy with no genetic risk factors for conditions later in life, parents want to know what they can expect.

Every couple can relate to this, though it’s perhaps even more true of parents who are experiencing fertility issues and are considering trying in vitro fertilization in order to conceive. In vitro fertilization is the most commonly used procedure in order to circumvent fertility issues. While the 30-40% success rate is on par with the chances of getting pregnant naturally during any given cycle, there is still that additional element of uncertainty. After all this, will the baby be healthy? Will special care be required?

These questions can be anxiety inducing. That’s why many couples that are considering trying IVF in order to conceive opt for preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). They are similar in concept to a prenatal diagnosis. These tests can tell you many things about the embryo created via IVF prior to embryo transfer. Here is what you can learn from PGS and PGD.

What is PGS?

PGS is a laboratory technique that allows for chromosomal analysis of the embryo before it is transferred to the womb to carry out the pregnancy. Chromosomes can tell a lot about the viability of the pregnancy. If the number of chromosomes differs from the usual 46, aneuploidy occurs. One way aneuploidy can manifest is in a child born with Down’s syndrome due to the extra chromosome. Aneuploidy can also result in a miscarriage, which is a significant risk factor for older women. By undergoing a PGS before embryo implantation, it can be determined if there is a chromosomal abnormality. If that is the case, the embryo won’t be transferred and a new fertility treatment course can begin without delay. If a miscarriage occurs, not only is this emotionally devastating, but it can also be a significant setback for starting a new fertility treatment. Generally, it takes several months following a miscarriage to be able to try fertility treatments again.

How does PGD differ?

PGD is a deeper analysis that goes beyond chromosomes to provide a genetic analysis before an embryo is transferred. PGD can test for autosomal recessive disorders and autosomal dominant disorders. Recessive disorders, like cystic fibrosis, don’t manifest in the parent, but they carry the genes for the disease. Dominant disorders, like Huntington’s Chorea, typically afflict one of the parents, which makes passing on the disorder even more likely than in the recessive scenario. Sex-linked disorders attached to the X or Y chromosome can also be identified. Essentially, PGD works to identify embryos that are at high risk for inheriting a disorder and identifying embryos that are unaffected.

Who should opt for PGS and PGD?

Anyone is a good candidate, but if you or your partner have any genetic risk factors that you are aware of, testing is strongly recommended. Even if the two of you don’t necessarily have any conditions that you’re aware of, someone in your family may. For example, having a close relative with Down’s syndrome or cystic fibrosis can increase the chances of you genetically passing that on to your child.

Additionally, PGS may be recommended for reasons beyond checking for genetic conditions in the embryo. If you’ve already suffered multiple miscarriages, PGS may be able to shed light on the reasons why and to decrease the chances of it occurring again. PGS can also address issues relating to infertility.

Conclusion

While absolute certainty is hard to come by, gathering enough facts and risk factors can give you the insight you desire regarding your baby. While many different genetic conditions can be identified with PGS/PGD, you can also find out if the embryo being tested is viable for a successful pregnancy. If you already know that you or your partner have risk factors that may be passed onto your child, it’s recommended that you opt for this testing. If you have any questions about fertility services or testing, or you’re ready to get the process started, book an appointment online to schedule a consultation today. Dr. Mor and the team at California Center for Reproductive Health are here to provide the care and fertility services needed so you can start the happy, healthy family you’ve always wanted.

See Dr. Mor’s Publications

Eliran Mor, MD

Reproductive Endocrinologist located in Encino, Santa Monica, Valencia & West Hollywood, CA
Reproductive Endocrinologist located in Encino, Valencia & West Hollywood, CA Doctor Mor received his medical degree from Tel Aviv University-Sackler School of Medicine in Israel. He completed a four-year residency in Obstetrics and Gynecology at New York Methodist Hospital in Brooklyn, New York. Subsequently, Dr. Mor completed a three-year fellowship in Reproductive Endocrinology and Infertility […]
Read More

FAQ

What does a reproductive endocrinologist and infertility specialist do?

Reproductive endocrinology and Infertility is a sub-specialty of Obstetrics and Gynecology. In addition to managing medical and surgical treatment of disorders of the female reproductive tract, reproductive endocrinologist and infertility (REI) specialists undergo additional years of training to provide fertility treatments using assisted reproductive technology (ART) such as in vitro fertilization.

Reproductive endocrinologists receive board certification by the American Board of Obstetrics and Gynecology in both Obstetrics and Gynecology and Reproductive Endocrinology and Infertility.

When should I see an REI specialist?

In general, patients should consider consulting with an REI specialist after one year of trying unsuccessfully to achieve pregnancy. The chance of conceiving every month is around 20%, therefore after a full year of trying approximately 15% of couples will still not have achieved a pregnancy.

However, if a woman is over the age of 35 it would be reasonable to see a fertility specialist earlier, typically after 6 months of trying.

Other candidates to seek earlier treatment are women who have irregular menses, endometriosis, fibroids, polycystic ovary syndrome (PCOS), women who have had 2 or more miscarriages, or problems with the fallopian tubes (prior ectopic pregnancy).

What are the reasons we are having trouble conceiving?

Approximately 1/3 of the time cause for infertility is a female factor, 1/3 of the time a male factor, and the remaining 1/3 a couples’ factor.

At CCRH, we emphasize the importance of establishing a correct diagnosis. Both partners undergo a comprehensive evaluation including a medical history and physical exam.

Furthremore, the woman’s ovarian reserve is assessed with a pelvic ultrasound and a hormonal profile. A hysterosalpingogram (HSG) will confirm fallopian tube patency and the uterine cavity is free of intracavitary lesions. A semen analysis is also obtained to evaluate for concentration, motility, and morphology of the sperm.

Additional work up is then individualized to direct the best possible treatment option for each couple.

What is IVF? What is the process like?

In vitro fertilization (IVF) is the process that involves fertilization of an egg outside of a woman’s body.

The process starts with fertility drugs prescribed to help stimulate egg development. In your natural cycle, your body is only able to grow one dominant egg, but with stimulation medication we can recruit multiple eggs to continue to grow. After about 8-10 days of stimulation, the eggs are surgically retrieved and then fertilized with sperm in a specialized laboratory. Fertilized eggs are then cultured under a strictly controlled environment within specialized incubators in the IVF laboratory for 3-5 days while they develop as embryos. Finally, embryos (or an embryo) are transferred into the uterine cavity for implantation.

Should I have IVF?

Before deciding if IVF is the right choice, it’s important to sit down with an REI specialist to discuss available treatment options. For some people, other methods such as fertility drugs, intrauterine insemination (IUI) may be the best first choice treatment. At CCRH, we believe each individual couple is unique and not everyone needs IVF.

Is the IVF procedure painful?

While not painful, the fertility medications may some side effects including headaches, hot flashes, mood swings, and bloating. The injection sites may also bruise.

Will IVF guarantee a baby?

Unfortunately, no. Many people think once they start IVF it’s a matter of time that they will be pregnant and have a baby. But according to national statistics per the Society of Assisted Reproduction (SART), on average 40% of assisted reproduction cycles achieve live births in women under age 35. The chances of success then continue to decrease with advancing age.

At CCRH, we employ only evidence-based interventions to ensure patient safety and optimal outcome. While we cannot guarantee a baby, we guarantee that you will receive the best, most advanced, personalized care to help you maximize your chance of a baby.

What is the success rate for IVF?

The average IVF success rate (success measured in live birth rate) using one’s own eggs begins to drop around age 35 and then rapidly after age 40. This is due to the decline in egg quantity and egg quality as a woman ages.

Our clinic’s success rate consistently beats the national average year after year.

Do insurance plans cover infertility treatment? How much does IVF cost?

Individual insurance plans often do not have any coverage for infertility treatments. If you have a group plan, you can call members services to see if they have coverage for infertility (including consultation/workup and IVF).

After your consultation with our REI specialist, one of our dedicated account managers with sit with you to go over the cost of treatment.

You May Also Like