If you’re currently trying to conceive or simply planning to become pregnant in the future, information about genetic testing options is a must. The technology behind genetic testing continues to evolve at an ultra-rapid pace.
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Genetics
informed choice for a healthy baby
Why consider testing
A great starting point to understanding the importance of pre-pregnancy genetic testing is to refer back to our original goal: to have a healthy baby. Through that lens, you can begin to unravel the reasons as to why you would want to make genetic testing part of your pre-conception plans right now. Many individuals are surprised to learn that a major portion of genetic risk to offspring has nothing to do with your personal family history. This is such a foundational principle of family building, let’s say it again. A major portion of your genetic risk has nothing to do with your personal family history.
Four testing opportunities
We’ve broken down genetic testing into four opportunities for maximizing the chances of having a healthy baby. Regardless of personal circumstances, everyone should consider taking advantage of the first two. The second two opportunities are applicable to specific reproductive circumstances.
Testing yourself (pre-pregnancy)
The first opportunity is to test yourself to learn more about whether you carry any genes that could potentially cause problems in their offspring. Some of these identified genes can even reveal aspects of your own future health. Your family history alone is not a good indicator because, typically, there is no effect of being a carrier. This test, known as expanded carrier screening (ECS), is done via bloodwork or a saliva sample can be done at any time prior to attempting conception (whether at home or through the office). That means you can test yourself for these right now.
400+
Number of silent genes for which testing can be done
25%
Chance of offspring being affected with a genetic disease if both egg and sperm sources are gene mutation carries
60%
Percentage of U.S. population with common medical conditions for which gene susceptibility testing is available
Testing your embryos (pre-implantation)
The second genetic testing opportunity is unique to IVF and involves sampling a few cells from the outside layer of an embryo (not the portion that develops into the baby) to learn more about its genetics. This is called preimplantation genetic testing (PGT). Some forms of PGT, like PGT-A or PGT-P can be considered by anyone because they screen for genetic issues that apply to everyone. Other individuals will require additional forms of PGT like PGT-M or PGT-SR.
A blastocyst (the embryo stage at which time a biopsy can be performed)
For everyone
A
Aneuploidy
Aneuploidy refers to whole chromosomes pairs which have lost or grained an entire chromosome.
WGS
Whole genome sequencing
Whole genome sequencing is the latest technological advance in PGT which, for the first time, allows genetic screening at the highest possible resolution: the DNA base pair. Learn more here: www.orchidhealth.com.
For some people
M
Monogenic Deffects
Monogenic defects are when a single gene (previously known to the intended parents) can cause disease in an offspring.
SR
Structural Rearrangements
Structural rearrangements occur when a large piece of a chromosome moves to different chromosome.
80%
Percentage of embryos that are genetically abnormal at age 40
<1%
Chance of having a child born with down syndrome
after PGT-A
10%
Percentage of neurodevelopmental disorders detected with PGT-A using WGS
Testing after recurrent pregnancy loss
One of the most difficult challenges in life is the loss of a pregnancy. Getting to the bottom of answers behind it . Currently it is possible to look for genetic reasons with the embryo behind pregnancy loss. It is very similar to PGT-A. https://www.natera.com/womens-health/anora-miscarriage-test/
For repetitive losses, karyotypes of the parents are indicated.
Testing for severe infertility
Although more rarely indicated, additional genetic tests are available specifically for both women and men that are affected by significantly reduced eggs and sperm numbers. These include testing for karyotype, Fragile X and Y chromosome microdeletions.