What Is Genetic Screening?

If you’ve been struggling with infertility for some time, you may be seriously considering in vitro fertilization (IVF). In recent years, part of the IVF process – or rather, part of the pre-IVF process – has increasingly included prepregnancy genetic screening and preimplantation genetic screening. Although these terms are nearly identical, they are actually distinctly different.

In both cases, genetic testing, or screening, is exactly what it sounds like. Prepregnancy genetic screening can help determine if your infertility may be linked to a genetic disorder. Additionally, the evaluation can determine whether you are a “carrier” of certain genetic diseases that could potentially be passed to your children. Similarly, preimplantation genetic screening tests embryos for abnormalities prior to transfer during IVF.

At Viera Fertility in Melbourne, we understand this terminology is largely unfamiliar – and very likely overwhelming. To help make sense of the different genetic testing options available, we’re taking a closer look at each of them.

Who Should Get Genetic Testing?

If neither you nor any family members have ever been diagnosed with any genetic diseases, you may wonder why you would need genetic testing at all. Contrary to popular belief, you can be a carrier of various genetic disorders or mutations without being affected by them yourself. According to the National Human Genome Research Institute, “A carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms. Carriers are associated with diseases inherited as recessive traits.”

In other words, you may not ever show a single symptom, but could still be capable of passing a genetic disease to your child. Additionally, they could then potentially pass it on to their child, and so on. This is exactly why genetic testing is so important. While it certainly isn’t required, we encourage all of our patients at Viera Fertility to have it done.

Prepregnancy Genetic Screening

Prepregnancy genetic screening is also commonly referred to as “prepregnancy genetic screening,” “carrier screening,” and “genetic testing.” There are several types of genetic testing kits available. Your fertility doctor will help you determine which one is most appropriate based on factors such as your family medical history. An evaluation can screen for over 100 unique syndromes and diseases, including Cystic Fibrosis and Tay-Sachs Disease.

Just a few years ago, genetic testing was incredibly expensive, but technological advances have made it more widely accessible. In most cases today, testing is as simple as both parents giving small blood or saliva samples. These samples are then sent to a lab for analysis.

Preimplantation Genetic Screening

Also called PGS, preimplantation genetic screening aims to ensure that only healthy embryos are implanted during IVF. Through day 5 biopsies, when the embryos are blastocysts, PGS determines how many cells each one has. Anything besides 46 chromosomes in an embryo is considered abnormal. Considering that even in naturally-conceived pregnancies, as many as 1 in 20 children are born with birth defects, this type of genetic screening is invaluable.

What Happens if Genetic Testing Finds a Disease?

It is actually rather common for one or both parents to test positive for at least one genetic mutation. Many genetic diseases have high carrier frequency, such as Gaucher Disease with 1 in 18 odds. However, even if both parents test positive as carriers for a single genetic disorder, that does not necessarily mean it will be passed to their child. There are also many genetic mutations that are not associated with serious disease.

We understand getting confirmation that you are a carrier of any genetic disorder can initially be scary. At our Melbourne fertility clinic, we work closely with you through genetic counseling. Together, we come up with the best course of action. Bear in mind, in many cases, patients continue their original fertility treatment plan and do not take additional actions.

Genetic Screening at Viera Fertility

At Viera Fertility Center, we believe that all decisions regarding your pregnancy and future family should be well-informed. To learn more about genetic screening, please contact us to schedule a consultation.