Let’s get started.<\/p>\n\n\n\n
![\"PGS](\"https:\/\/alexroblesmd.com\/wp-content\/uploads\/2021\/07\/pgs-test-results.jpg\")
<\/figure><\/div>\n\n\n\n\n\n*Note: PGS stands for preimplantation genetic screening. This term has been replaced with PGT-A, or preimplantation genetic testing for aneuploidy. I will be using the terms interchangeably.*<\/p>\n\n\n\n
What does PGS testing tell you?<\/h2>\n\n\n\n
Preimplantation genetic testing is meant to tell you if your embryo has a specific genetic abnormality or not. That way, you can avoid transferring an abnormal embryo which can lead to miscarriage or an unhealthy baby.<\/p>\n\n\n\n
There are three different types of preimplantation genetic tests, each looking at three different things: PGT-A, PGT-M, and PGT-SR.<\/p>\n\n\n\n
PGT-A<\/strong><\/h3>\n\n\n\nPGT-A is the most common form of preimplantation testing and it looks for something called aneuploidy.<\/p>\n\n\n\n
This is a fancy way of saying, does the embryo contain the correct number of chromosomes?<\/p>\n\n\n\n
Humans have 23 pairs of chromosomes- equalling 46.<\/p>\n\n\n\n
Therefore, an embryo with 46 chromosomes is called a ” euploid embryo ” and is considered normal.<\/p>\n\n\n\n
Any other number than 46 is abnormal.<\/p>\n\n\n\n
If the embryo is missing a chromosome and has 45, this is known as monosomy.<\/p>\n\n\n\n
If it contains an extra chromosome and has 47, this is known as a trisomy.<\/p>\n\n\n\n
An embryo could even have a monosomy on one chromosome and a trisomy on another one. It can also be a complex aneuploid, having multiple missing or additional chromosomes.<\/p>\n\n\n\n
Mosaicism<\/h4>\n\n\n\n
PGT-A can also detect mosaicism.<\/p>\n\n\n\n
Embryo mosaicism is when an embryo contains two or more genetically distinct cell lines.<\/p>\n\n\n\n
For example, some cells appear chromosomally normal, while others showed some form of aneuploidy.<\/p>\n\n\n\n
If you get a mosaic embryo, your clinic may or may not recommend transferring this embryo depending on your situation.<\/p>\n\n\n\n
Oftentimes, we will recommend that you see a genetic counselor to understand the risks involved with using a mosaic.<\/p>\n\n\n\n
So the potential results are:<\/p>\n\n\n\n
- Euploid<\/li>
- Aneuploid<\/li>
- Mosaic<\/li>
- No result (an insufficient amount of DNA was seen in the sample, so a result could not be determined).<\/li><\/ul>\n\n\n\n
PGT-M<\/strong><\/h3>\n\n\n\nPGT-M (preimplantation genetic testing for monogenic diseases) takes it one step deeper and screens for specific genetic conditions that affect individual genes. A gene is a segment of DNA that is located within a specific chromosome.<\/p>\n\n\n\n
You would only do PGT-M if there is a genetic condition that runs in your family, or if you and your partner carry the same genetic disorder that you risk passing on to your offspring.<\/p>\n\n\n\n
PGT-M cannot “fix” an embryo that has the condition. All we can tell you is that this particular embryo has or doesn’t have the condition.<\/p>\n\n\n\n
PGT-SR<\/strong><\/h3>\n\n\n\nPreimplantation genetic testing for structural rearrangements looks for larger genetic defects.<\/p>\n\n\n\n
Sometimes you may have something called a translocation or inversion mutation where parts of two different chromosomes are exchanged or even missing.<\/p>\n\n\n\n
PGT-SR is less commonly used and is usually only done when a specific structural mutation is detected in either parent.<\/p>\n\n\n\n
What abnormalities does PGS test for?<\/h2>\n\n\n\n
PGT-A only looks for numerical chromosomal abnormalities. This is useful for detecting common disorders like Down syndrome (which is trisomy 21) and trisomies 13 and 18.<\/p>\n\n\n\n
![\"picture](\"https:\/\/alexroblesmd.com\/wp-content\/uploads\/2021\/07\/pgs-down-syndroms.jpg\")
<\/figure><\/div>\n\n\n\nIt does not look for genetic conditions caused by single mutations in a gene.<\/p>\n\n\n\n
PGT-M on the other hand tests for a specific genetic condition that may run in your family.<\/p>\n\n\n\n
Common conditions it can screen for include cystic fibrosis, spinal muscular atrophy, Tay-Sachs disease, thalassemia, sickle cell anemia, Huntington’s disease, BRCA, and much more.<\/p>\n\n\n\n
We have to know the specific condition that we are looking for to be able to do PGT-M.<\/p>\n\n\n\n
Lastly, PGT-SR can test for larger genetic abnormalities like Robertsonian translocations<\/a> or chromosomal inversions.<\/p>\n\n\n\nWhat percentage of PGS embryos are normal? (PGS Testing Statistics by Age)<\/h2>\n\n\n\n
In women under the age of 35, approximately 60% of embryos will be chromosomally normal.<\/p>\n\n\n\n
In women between the ages of 35-38, only about 50% of embryos will be euploid.<\/a><\/p>\n\n\n\nThe rate of aneuploidy begins to increase significantly after the age of 40 and drops below 30% in women over the age of 41.<\/p>\n\n\n\n
This explains why miscarriage rates are significantly higher in women over the age of 40.<\/p>\n\n\n\n
Increasing maternal age is associated with decreasing egg quality.<\/p>\n\n\n\n
Is PGS testing reliable?<\/h2>\n\n\n\n
PGT-A is very reliable for detecting aneuploidy. It is reported to have ~ 95% accuracy.<\/a><\/p>\n\n\n\nWith that said, nothing is ever 100%. PGT does not guarantee that you have healthy embryos.<\/p>\n\n\n\n
In addition, there is a small chance that the embryo biopsy<\/a> can lead to a<\/p>\n\n\n\n- False positive: <\/strong>The embryo is labeled as abnormal, but it is actually normal<\/li>
- False negative:<\/strong> The embryo is labeled as normal, but it is actually abnormal<\/li>
- Mosaic result: <\/strong>Mosaic embryos have been transferred and have led to seemingly normal babies. However, mosaic embryos do have as high of live birth rates compared to euploid embryos.<\/a><\/li><\/ul>\n\n\n\n
That is why we always recommend that you get some form of non-invasive prenatal aneuploidy assessment in early pregnancy at the very least.<\/p>\n\n\n\n
Should I get PGS Testing?<\/h2>\n\n\n\n
Several studies have concluded that PGT-A can improve your chances of a live birth if you are 35 years of age or older.<\/p>\n\n\n\n
In this patient population, PGT-A offers the benefit of choosing the single best embryo for the transfer. This decreases the time to pregnancy and increases the likelihood of achieving a live birth as abnormal embryos are more likely to lead to miscarriage.<\/p>\n\n\n\n
However, PGT-A does not seem to improve overall pregnancy rates in women under the age of 35. <\/a><\/p>\n\n\n\nOther patients who benefit from PGS include:<\/p>\n\n\n\n
- Couples with recurrent pregnancy loss (aka RPL or recurrent miscarriages)<\/li>
- Couples with a known monogenic disorder<\/li>
- Couples with a known structural chromosomal anomaly<\/li><\/ul>\n\n\n\n
It is important to note that PGT is optional, and will add costs to your IVF treatment cycle.<\/p>\n\n\n\n
How long do PGS results take? (The Genetic Testing Timeline)<\/h2>\n\n\n\n
PGS results take between 10-14 days after the embryo biopsy is taken.<\/p>\n\n\n\n
An average IVF cycle lasts between 8-12 days<\/a>.<\/p>\n\n\n\nYou will take a trigger shot on the last day of the cycle and your egg retrieval occurs 36 hours after the trigger.<\/a><\/p>\n\n\n\nYour eggs will be fertilized with sperm on that day<\/a>.<\/p>\n\n\n\nThe day following your retrieval, we will check to see if fertilization successfully took place. This is Day 1.<\/p>\n\n\n\n
Your embryos will then be kept in the IVF lab for one week.<\/p>\n\n\n\n
Hopefully, one or more embryos will make it to the blastocyst stage on Days 5, 6, or 7<\/a>. This is when the biopsy will be performed and sent for genetic testing.<\/p>\n\n\n\n![\"image](\"https:\/\/alexroblesmd.com\/wp-content\/uploads\/2021\/07\/blastocyst.jpg\")
<\/figure><\/div>\n\n\n\nThe embryo will then be frozen and can be used for a frozen embryo transfer<\/a> in the future.<\/p>\n\n\n\nFrom this point, it will be 10-14 days until we receive the report of your genetic testing results.<\/p>\n\n\n\n
Other Related Questions<\/h2>\n\n\n\nCan PGS detect Down syndrome?<\/h3>\n\n\n\n
PGT-A can detect Down syndrome if it is present in the embryo. Instead of seeing two copies of chromosome 21, an embryo with Down syndrome will have three copies (Trisomy 21).<\/p>\n\n\n\n
Can PGS detect autism?<\/h3>\n\n\n\n
PGT cannot detect autism because it is not caused by a single gene mutation or a chromosomal numerical abnormality.<\/p>\n\n\n\n
As of right now, the exact cause of autism is unknown and thought to be due to multiple factors.<\/p>\n\n\n\n
If autism is present in your family it is important to get a genetic carrier screening test to look for other conditions you might carry in your DNA.<\/p>\n\n\n\n
Does PGS Testing Reveal Gender?<\/h3>\n\n\n\n
PGT-A can reveal the gender<\/a> of an embryo by looking at the two sex chromosomes. If an embryo has two X chromosomes, it is a female. If an embryo has an X and a Y chromosome, it is a male.<\/p>\n\n\n\nIs PGS Safe?<\/h3>\n\n\n\n
The PGT biopsy is a fairly safe procedure when done on blastocyst embryos.<\/p>\n\n\n\n
A blastocyst has two distinct cell lines :<\/p>\n\n\n\n
- The outer cells, known as the trophectoderm, which is what will eventually form the placenta.<\/li>
- The inner cell mass is what will form the embryo.<\/li><\/ul>\n\n\n\n
A PGT biopsy takes a small sample of 5-7 cells from the trophectoderm. However, a larger biopsy is taken, it can potentially harm the embryo.<\/a><\/p>\n\n\n\nWhile the risk of harm to the embryo is small, recent studies have seen a small increase in placental-related pregnancy complications in embryos that have undergone PGT biopsy.<\/p>\n\n\n\n
PGT-M<\/strong><\/h3>\n\n\n\nPGT-M (preimplantation genetic testing for monogenic diseases) takes it one step deeper and screens for specific genetic conditions that affect individual genes. A gene is a segment of DNA that is located within a specific chromosome.<\/p>\n\n\n\n
You would only do PGT-M if there is a genetic condition that runs in your family, or if you and your partner carry the same genetic disorder that you risk passing on to your offspring.<\/p>\n\n\n\n
PGT-M cannot “fix” an embryo that has the condition. All we can tell you is that this particular embryo has or doesn’t have the condition.<\/p>\n\n\n\n
PGT-SR<\/strong><\/h3>\n\n\n\nPreimplantation genetic testing for structural rearrangements looks for larger genetic defects.<\/p>\n\n\n\n
Sometimes you may have something called a translocation or inversion mutation where parts of two different chromosomes are exchanged or even missing.<\/p>\n\n\n\n
PGT-SR is less commonly used and is usually only done when a specific structural mutation is detected in either parent.<\/p>\n\n\n\n
What abnormalities does PGS test for?<\/h2>\n\n\n\n
PGT-A only looks for numerical chromosomal abnormalities. This is useful for detecting common disorders like Down syndrome (which is trisomy 21) and trisomies 13 and 18.<\/p>\n\n\n\n
<\/figure><\/div>\n\n\n\nIt does not look for genetic conditions caused by single mutations in a gene.<\/p>\n\n\n\n
PGT-M on the other hand tests for a specific genetic condition that may run in your family.<\/p>\n\n\n\n
Common conditions it can screen for include cystic fibrosis, spinal muscular atrophy, Tay-Sachs disease, thalassemia, sickle cell anemia, Huntington’s disease, BRCA, and much more.<\/p>\n\n\n\n
We have to know the specific condition that we are looking for to be able to do PGT-M.<\/p>\n\n\n\n
Lastly, PGT-SR can test for larger genetic abnormalities like Robertsonian translocations<\/a> or chromosomal inversions.<\/p>\n\n\n\nWhat percentage of PGS embryos are normal? (PGS Testing Statistics by Age)<\/h2>\n\n\n\n
In women under the age of 35, approximately 60% of embryos will be chromosomally normal.<\/p>\n\n\n\n
In women between the ages of 35-38, only about 50% of embryos will be euploid.<\/a><\/p>\n\n\n\nThe rate of aneuploidy begins to increase significantly after the age of 40 and drops below 30% in women over the age of 41.<\/p>\n\n\n\n
This explains why miscarriage rates are significantly higher in women over the age of 40.<\/p>\n\n\n\n
Increasing maternal age is associated with decreasing egg quality.<\/p>\n\n\n\n
Is PGS testing reliable?<\/h2>\n\n\n\n
PGT-A is very reliable for detecting aneuploidy. It is reported to have ~ 95% accuracy.<\/a><\/p>\n\n\n\nWith that said, nothing is ever 100%. PGT does not guarantee that you have healthy embryos.<\/p>\n\n\n\n
In addition, there is a small chance that the embryo biopsy<\/a> can lead to a<\/p>\n\n\n\n- False positive: <\/strong>The embryo is labeled as abnormal, but it is actually normal<\/li>
- False negative:<\/strong> The embryo is labeled as normal, but it is actually abnormal<\/li>
- Mosaic result: <\/strong>Mosaic embryos have been transferred and have led to seemingly normal babies. However, mosaic embryos do have as high of live birth rates compared to euploid embryos.<\/a><\/li><\/ul>\n\n\n\n
That is why we always recommend that you get some form of non-invasive prenatal aneuploidy assessment in early pregnancy at the very least.<\/p>\n\n\n\n
Should I get PGS Testing?<\/h2>\n\n\n\n
Several studies have concluded that PGT-A can improve your chances of a live birth if you are 35 years of age or older.<\/p>\n\n\n\n
In this patient population, PGT-A offers the benefit of choosing the single best embryo for the transfer. This decreases the time to pregnancy and increases the likelihood of achieving a live birth as abnormal embryos are more likely to lead to miscarriage.<\/p>\n\n\n\n
However, PGT-A does not seem to improve overall pregnancy rates in women under the age of 35. <\/a><\/p>\n\n\n\nOther patients who benefit from PGS include:<\/p>\n\n\n\n
- Couples with recurrent pregnancy loss (aka RPL or recurrent miscarriages)<\/li>
- Couples with a known monogenic disorder<\/li>
- Couples with a known structural chromosomal anomaly<\/li><\/ul>\n\n\n\n
It is important to note that PGT is optional, and will add costs to your IVF treatment cycle.<\/p>\n\n\n\n
How long do PGS results take? (The Genetic Testing Timeline)<\/h2>\n\n\n\n
PGS results take between 10-14 days after the embryo biopsy is taken.<\/p>\n\n\n\n
An average IVF cycle lasts between 8-12 days<\/a>.<\/p>\n\n\n\nYou will take a trigger shot on the last day of the cycle and your egg retrieval occurs 36 hours after the trigger.<\/a><\/p>\n\n\n\nYour eggs will be fertilized with sperm on that day<\/a>.<\/p>\n\n\n\nThe day following your retrieval, we will check to see if fertilization successfully took place. This is Day 1.<\/p>\n\n\n\n
Your embryos will then be kept in the IVF lab for one week.<\/p>\n\n\n\n
Hopefully, one or more embryos will make it to the blastocyst stage on Days 5, 6, or 7<\/a>. This is when the biopsy will be performed and sent for genetic testing.<\/p>\n\n\n\n<\/figure><\/div>\n\n\n\nThe embryo will then be frozen and can be used for a frozen embryo transfer<\/a> in the future.<\/p>\n\n\n\nFrom this point, it will be 10-14 days until we receive the report of your genetic testing results.<\/p>\n\n\n\n
Other Related Questions<\/h2>\n\n\n\nCan PGS detect Down syndrome?<\/h3>\n\n\n\n
PGT-A can detect Down syndrome if it is present in the embryo. Instead of seeing two copies of chromosome 21, an embryo with Down syndrome will have three copies (Trisomy 21).<\/p>\n\n\n\n
Can PGS detect autism?<\/h3>\n\n\n\n
PGT cannot detect autism because it is not caused by a single gene mutation or a chromosomal numerical abnormality.<\/p>\n\n\n\n
As of right now, the exact cause of autism is unknown and thought to be due to multiple factors.<\/p>\n\n\n\n
If autism is present in your family it is important to get a genetic carrier screening test to look for other conditions you might carry in your DNA.<\/p>\n\n\n\n
Does PGS Testing Reveal Gender?<\/h3>\n\n\n\n
PGT-A can reveal the gender<\/a> of an embryo by looking at the two sex chromosomes. If an embryo has two X chromosomes, it is a female. If an embryo has an X and a Y chromosome, it is a male.<\/p>\n\n\n\nIs PGS Safe?<\/h3>\n\n\n\n
The PGT biopsy is a fairly safe procedure when done on blastocyst embryos.<\/p>\n\n\n\n
A blastocyst has two distinct cell lines :<\/p>\n\n\n\n
- The outer cells, known as the trophectoderm, which is what will eventually form the placenta.<\/li>
- The inner cell mass is what will form the embryo.<\/li><\/ul>\n\n\n\n
A PGT biopsy takes a small sample of 5-7 cells from the trophectoderm. However, a larger biopsy is taken, it can potentially harm the embryo.<\/a><\/p>\n\n\n\nWhile the risk of harm to the embryo is small, recent studies have seen a small increase in placental-related pregnancy complications in embryos that have undergone PGT biopsy.<\/p>\n\n\n\n
Preimplantation genetic testing for structural rearrangements looks for larger genetic defects.<\/p>\n\n\n\n
Sometimes you may have something called a translocation or inversion mutation where parts of two different chromosomes are exchanged or even missing.<\/p>\n\n\n\n
PGT-SR is less commonly used and is usually only done when a specific structural mutation is detected in either parent.<\/p>\n\n\n\n
What abnormalities does PGS test for?<\/h2>\n\n\n\n
PGT-A only looks for numerical chromosomal abnormalities. This is useful for detecting common disorders like Down syndrome (which is trisomy 21) and trisomies 13 and 18.<\/p>\n\n\n\n
<\/figure><\/div>\n\n\n\nIt does not look for genetic conditions caused by single mutations in a gene.<\/p>\n\n\n\n
PGT-M on the other hand tests for a specific genetic condition that may run in your family.<\/p>\n\n\n\n
Common conditions it can screen for include cystic fibrosis, spinal muscular atrophy, Tay-Sachs disease, thalassemia, sickle cell anemia, Huntington’s disease, BRCA, and much more.<\/p>\n\n\n\n
We have to know the specific condition that we are looking for to be able to do PGT-M.<\/p>\n\n\n\n
Lastly, PGT-SR can test for larger genetic abnormalities like Robertsonian translocations<\/a> or chromosomal inversions.<\/p>\n\n\n\n In women under the age of 35, approximately 60% of embryos will be chromosomally normal.<\/p>\n\n\n\n In women between the ages of 35-38, only about 50% of embryos will be euploid.<\/a><\/p>\n\n\n\n The rate of aneuploidy begins to increase significantly after the age of 40 and drops below 30% in women over the age of 41.<\/p>\n\n\n\n This explains why miscarriage rates are significantly higher in women over the age of 40.<\/p>\n\n\n\n Increasing maternal age is associated with decreasing egg quality.<\/p>\n\n\n\n PGT-A is very reliable for detecting aneuploidy. It is reported to have ~ 95% accuracy.<\/a><\/p>\n\n\n\n With that said, nothing is ever 100%. PGT does not guarantee that you have healthy embryos.<\/p>\n\n\n\n In addition, there is a small chance that the embryo biopsy<\/a> can lead to a<\/p>\n\n\n\n That is why we always recommend that you get some form of non-invasive prenatal aneuploidy assessment in early pregnancy at the very least.<\/p>\n\n\n\n Several studies have concluded that PGT-A can improve your chances of a live birth if you are 35 years of age or older.<\/p>\n\n\n\n In this patient population, PGT-A offers the benefit of choosing the single best embryo for the transfer. This decreases the time to pregnancy and increases the likelihood of achieving a live birth as abnormal embryos are more likely to lead to miscarriage.<\/p>\n\n\n\n However, PGT-A does not seem to improve overall pregnancy rates in women under the age of 35. <\/a><\/p>\n\n\n\n Other patients who benefit from PGS include:<\/p>\n\n\n\n It is important to note that PGT is optional, and will add costs to your IVF treatment cycle.<\/p>\n\n\n\n PGS results take between 10-14 days after the embryo biopsy is taken.<\/p>\n\n\n\n An average IVF cycle lasts between 8-12 days<\/a>.<\/p>\n\n\n\n You will take a trigger shot on the last day of the cycle and your egg retrieval occurs 36 hours after the trigger.<\/a><\/p>\n\n\n\n Your eggs will be fertilized with sperm on that day<\/a>.<\/p>\n\n\n\n The day following your retrieval, we will check to see if fertilization successfully took place. This is Day 1.<\/p>\n\n\n\n Your embryos will then be kept in the IVF lab for one week.<\/p>\n\n\n\n Hopefully, one or more embryos will make it to the blastocyst stage on Days 5, 6, or 7<\/a>. This is when the biopsy will be performed and sent for genetic testing.<\/p>\n\n\n\n The embryo will then be frozen and can be used for a frozen embryo transfer<\/a> in the future.<\/p>\n\n\n\n From this point, it will be 10-14 days until we receive the report of your genetic testing results.<\/p>\n\n\n\n PGT-A can detect Down syndrome if it is present in the embryo. Instead of seeing two copies of chromosome 21, an embryo with Down syndrome will have three copies (Trisomy 21).<\/p>\n\n\n\n PGT cannot detect autism because it is not caused by a single gene mutation or a chromosomal numerical abnormality.<\/p>\n\n\n\n As of right now, the exact cause of autism is unknown and thought to be due to multiple factors.<\/p>\n\n\n\n If autism is present in your family it is important to get a genetic carrier screening test to look for other conditions you might carry in your DNA.<\/p>\n\n\n\n PGT-A can reveal the gender<\/a> of an embryo by looking at the two sex chromosomes. If an embryo has two X chromosomes, it is a female. If an embryo has an X and a Y chromosome, it is a male.<\/p>\n\n\n\n The PGT biopsy is a fairly safe procedure when done on blastocyst embryos.<\/p>\n\n\n\n A blastocyst has two distinct cell lines :<\/p>\n\n\n\n A PGT biopsy takes a small sample of 5-7 cells from the trophectoderm. However, a larger biopsy is taken, it can potentially harm the embryo.<\/a><\/p>\n\n\n\n While the risk of harm to the embryo is small, recent studies have seen a small increase in placental-related pregnancy complications in embryos that have undergone PGT biopsy.<\/p>\n\n\n\nWhat percentage of PGS embryos are normal? (PGS Testing Statistics by Age)<\/h2>\n\n\n\n
Is PGS testing reliable?<\/h2>\n\n\n\n
Should I get PGS Testing?<\/h2>\n\n\n\n
How long do PGS results take? (The Genetic Testing Timeline)<\/h2>\n\n\n\n
<\/figure><\/div>\n\n\n\nOther Related Questions<\/h2>\n\n\n\n
Can PGS detect Down syndrome?<\/h3>\n\n\n\n
Can PGS detect autism?<\/h3>\n\n\n\n
Does PGS Testing Reveal Gender?<\/h3>\n\n\n\n
Is PGS Safe?<\/h3>\n\n\n\n
![\"alex](\"https:\/\/alexroblesmd.com\/wp-content\/uploads\/2023\/03\/alex-robles-md.jpeg\")
<\/figure>\n<\/div>\n\n\n\n