Embryo Biopsy & PGT-A Genetic Testing2023-04-26T15:33:04+00:00

Embryo Biopsy & PGT-A
Genetic Testing

Preimplantation Genetic Testing

Embryo Biopsy & PGT-A Genetic Testing

Preimplantation Genetic Testing

Endometrial Biopsy

An endometrial biopsy is done to evaluate the development of the lining of the uterus (endometrium) in relationship to ovulation. Routinely performed 7-10 days after a positive LH surge test, this test determines if the lining of the uterus is developing at the expected rate. Because a catheter is inserted into the uterus and a sample of the uterine lining is obtained, it is extremely important that you are not pregnant: this procedure has a 5% chance of disrupting an early pregnancy. It for this reason that you have been advised to avoid or have only protected intercourse during this cycle.

To help minimize the discomfort associated with the procedure, we suggest you take two Aleve (440-550mg) or three to four Motrin/Advil/Nuprin (ibuprofen 600-800mg) one hour before the biopsy. Just prior to the biopsy, a topical anesthetic may be applied to the cervix followed by cleansing with an iodine-based solution. If you are allergic to novocaine, betadine, iodine, or shellfish, please notify the doctor prior to the procedure. Once the anesthetic has had time to become effective, an instrument is placed on the cervix to hold it in place while a small plastic tube (catheter) is inserted through the cervical canal and into the uterus. It is normal to experience moderate to severe menstrual-like cramps when the catheter enters the uterus and while the biopsy is being taken, but this usually takes no more than 10-15 seconds.

Once the catheter is removed, the cramping resolves quickly. If the adequate tissue has been obtained, the procedure is complete. We advise you to avoid intercourse for two days after the procedure and call us if you experience any excessive or prolonged bleeding, temperature in excess of 100.6 degrees, pulse rate greater than 100 or excessive or prolonged pain.

Eventually, the embryo is transferred back into the uterus. This treatment was originally designed to help women with blocked fallopian tubes be able to conceive, however it has become a useful treatment modality for a number of other indications.

Preimplantation Genetic Testing

Preimplantation genetic testing (PGT) is a technique used in IVF to test for genetic abnormalities in your embryos. PGT involves performing embryo biopsy of day 5 or 6 blastocysts before they are transferred back to the uterus. The goal of PGT is to reduce the risk of transferring an abnormal embryo which may result in a failed embryo transfer, biochemical pregnancy, miscarriage, fetal death or a child born with anomalies.

Types of PGT:

Preimplantation genetic testing for aneuploidy (PGT-A)

A normal human embryo contains 23 pairs of chromosomes, one pair from the egg and one pair from sperm. Unfortunately, not all of our eggs and sperm have a normal number of chromosomes (termed euploid). Having embryos with extra or missing chromosomes, known as aneuploidy, happens by chance and is the most common cause of pregnancy loss. Aneuploid embryos may also result in an infant born with various anomalies. PGT-A involves testing the embryos for the correct number of chromosomes to maximize your chance of a healthy pregnancy.

Preimplantation genetic testing for monogenic disorders (PGT-M)

Many diseases involve a single gene defect (or monogenic defect) that is passed on from the parents. Parents known to be carriers of a genetic mutation that can be inherited can test their embryos to reduce the risk of having an affected child through a process known as PGT-M, formerly known as PGD (preimplantation genetic diagnosis).

Common examples for the need to use PGT-M includes:

-Both parents are silent carriers of an autosomal recessive disease, where two copies of the mutation are inherited (one from each parent) resulting in a diseased child (eg. Cystic fibrosis, sickle cell anemia, spinal muscular atrophy). Parent carrier status is often discovered during routine genetic carrier screening, prior to IVF, or through family history.

-Being a carrier of an X-linked disease, where the mutation is passed on from the X chromosome (eg. Fragile X syndrome).

-Presence of an autosomal dominant condition in one parent (ex. Huntington disease). This will yield a 50% chance of having an affected child.

-Parents with previous child affected by a single gene disorder

-One parent has a mutation associated with hereditary cancer syndrome (eg. BRCA1/2, Lynch syndrome)

Preimplantation genetic testing for structural rearrangements (PGT-SR)

This type of testing is for patients who are known to have a rearrangement of their own chromosomes. For example, with a reciprocal translocation, a piece of a chromosome breaks off and reattaches another chromosome, resulting in no net loss or gain of genetic material for the parent but may result in a loss or gain of genetic material for the embryo. Classic clinical presentation of someone with a chromosomal translocation or inversion is a history of recurrent pregnancy loss, which is diagnosed by performing parental karyotype(s). Embryos that have an extra or missing piece of a chromosome have a higher risk of miscarriage or a child born with disabilities.

Preimplantation genetic testing for aneuploidy (PGT-A)

A normal human embryo contains 23 pairs of chromosomes, one pair from the egg and one pair from sperm. Unfortunately, not all of our eggs and sperm have a normal number of chromosomes (termed euploid). Having embryos with extra or missing chromosomes, known as aneuploidy, happens by chance and is the most common cause of pregnancy loss. Aneuploid embryos may also result in an infant born with various anomalies. PGT-A involves testing the embryos for the correct number of chromosomes to maximize your chance of a healthy pregnancy.

Preimplantation genetic testing for monogenic disorders (PGT-M)

Many diseases involve a single gene defect (or monogenic defect) that is passed on from the parents. Parents known to be carriers of a genetic mutation that can be inherited can test their embryos to reduce the risk of having an affected child through a process known as PGT-M, formerly known as PGD (preimplantation genetic diagnosis).

Common examples for the need to use PGT-M includes:

-Both parents are silent carriers of an autosomal recessive disease, where two copies of the mutation are inherited (one from each parent) resulting in a diseased child (eg. Cystic fibrosis, sickle cell anemia, spinal muscular atrophy). Parent carrier status is often discovered during routine genetic carrier screening, prior to IVF, or through family history.

-Being a carrier of an X-linked disease, where the mutation is passed on from the X chromosome (eg. Fragile X syndrome).

-Presence of an autosomal dominant condition in one parent (ex. Huntington disease). This will yield a 50% chance of having an affected child.

-Parents with previous child affected by a single gene disorder

-One parent has a mutation associated with hereditary cancer syndrome (eg. BRCA1/2, Lynch syndrome)

Preimplantation genetic testing for structural rearrangements (PGT-SR)

This type of testing is for patients who are known to have a rearrangement of their own chromosomes. For example, with a reciprocal translocation, a piece of a chromosome breaks off and reattaches another chromosome, resulting in no net loss or gain of genetic material for the parent but may result in a loss or gain of genetic material for the embryo. Classic clinical presentation of someone with a chromosomal translocation or inversion is a history of recurrent pregnancy loss, which is diagnosed by performing parental karyotype(s). Embryos that have an extra or missing piece of a chromosome have a higher risk of miscarriage or a child born with disabilities.

More on PGT

PGT can only be performed during an IVF cycle. The decision to proceed with PGT can be fairly complex and will require significant counseling. Generally speaking, couples with a history of recurrent pregnancy loss, failed IVF cycles, advanced maternal age (>35 years old), or a prior pregnancy or child affected by a chromosomal or single gene defect.

Limitations of PGT

Although PGT is a great technique used to reduce the time it takes to have a healthy pregnancy there are limitations to this procedure.

No-result

It is possible that the cells biopsied may yield no result after genetic testing for a number of reasons. This may be a result of poor embryo quality, low number of cells obtained in the tube, degradation of cells post-biopsy, failure to amplify the cells prior to sequencing to list a few. The good news is, this is a rare outcome when performing PGT.

Limitations of testing

Although genetic testing can significantly reduce the risk of having a baby born with many birth defects, PGT cannot detect all possible birth defects. Additionally a false negative (a euploid embryo with a genetic abnormality) is a possible outcome, and for this reason we advise patients to undergo prenatal testing once pregnant.

Mosaicism

This is a condition where some of the cells are euploid, and other cells from the same embryo are aneuploid. What to do with a mosaic embryo can be controversial since a number of them can result in a healthy pregnancy. This is due to test results not accurately reflecting the genetic makeup of the inner cell mass which will develop into the fetus. Thorough counseling with a genetic counselor and Dr. Couvaras will be required to determine next steps.

Epigenetic changes

Epigenetics involves heritable changes in the expression of genes (genes that are turned on vs turned off). The process of embryo biopsy has been thought to affect how genes are expressed. Very little is known about the long term impact of PGT on embryos, however many studies are currently underway.

Embryo damage

Although rare, removing cells from the embryo during biopsy, can result in damage to the embryo. This may prevent the embryo from surviving the freeze/thaw process prior to transfer.

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FAQs

What if I don’t respond to the drugs for ovarian stimulation?2022-12-01T14:36:40+00:00

A response to ovarian stimulation depends on a number of different factors, the most important include available eggs, appropriate hormone levels, proper administration of any medications and lifestyle/environmental factors.
In order to respond to ovarian stimulation, a woman must have eggs available to respond; this is sometimes referred to as ovarian reserve. If a woman has diminished ovarian reserve (identified by high blood levels of follicle stimulation hormone (FSH), low blood levels of Anti Müllerian Hormone (AMH) or a low antral follicle count on ultrasound), she may not have as robust (or any) response to stimulation. For these patients, an alternate stimulation protocol may be tried or donated eggs may be used (from a woman known or unknown to the patient).
It is possible that a woman does have the necessary eggs but lacks the appropriate pituitary hormones to respond. In this case, using a different medication- one which may contain both FSH and luteinizing hormone (LH) may allow for an optimal response.
Lifestyle factors can also affect a woman’s response to stimulation. Optimizing weight, diet and stress and cessation of use of tobacco, alcohol and recreational substances can also improve a response to ovarian stimulation.

On the day of Egg Retrieval. What do I need to bring with me?2022-12-01T14:34:30+00:00

Photo ID: For your safety, IVF Phoenix™ requires that all patients provide photo identification prior to undergoing any surgical procedure within our facilities.

Responsible Adult: It is our responsibility to insure that you get home safely after your procedure, post- anesthesia. Therefore, you must have a responsible adult, over the age of 18, with whom you have a relationship, accompany you to this surgical appointment. They must stay at the center during your procedure, and be available to take you home after you are discharged. If both you and your partner are having procedures on the same day, we require a 3rd party be available to drive the couple home. We prefer that this person also be available to make sure that you are doing well once you get settled in your home.

No Children: Children are not allowed in the practice on the day of your procedure. Please arrange for childcare prior to arrival. Unfortunately, children cannot be brought with you to your surgical procedure at any time or under any circumstances.

 

Preparing for My Surgical Procedure with Anesthesia

Diet: Conscious sedations is used in our surgical procedures. If you have never been sedated before, there are important things to remember. For your safety, one important rule is to ensure that you do not eat or drink anything after midnight the night before your procedure. If you have a specific medical condition or special situation, please discuss with your nurse before this time frame.

Appropriate Clothing: Patients should follow these guidelines:

  • Wear comfortable clothes
  • No jewelry
  • No perfume
  • Refrain from makeup
  • No contact lenses

 

Semen Collection

For most patients arriving to the practice for their egg retrieval, a semen sample will be required by the Embryology Team in order to fertilize the egg(s) after your procedure. Male partners are encouraged to collect their sample at home prior to arriving for the retrieval. Once you arrive, please inform the Reception Desk staff that you have your sample so they can notify the Embryology Team. If you are traveling more than one and a half hours to the practice, you may collect a sample in our offices after you arrive. The period of abstinence from ejaculation is 3 days and no more than 4 days, as sperm DNA fragmentation increases with longer abstinence.

 

Arrival and Departure for Surgical Procedures

Patients should arrive 90 minutes before your scheduled procedure, or as instructed by your nurse. After checking in at the Reception Desk, the clinical team will bring you and your partner back to the procedure area. Your nurse will check your photo ID, review your recent food and beverage consumption and have you change into a surgical gown. Next, you will meet your Nurse Anesthetist, who will start an IV (intravenous) in your arm for medication administration. The office will review your medical history before beginning your sedation medication. During your procedure, your partner or accompanying adult will wait in the Reception Area. Most of the procedures are completed within 30 minutes. Most of our patients take about 30-60 minutes to recover before they return home. We find that our patients recover best when they are in a familiar, comfortable place usually in their home. From start to finish, patients should expect to be at the practice for 2½ to 3 hours.

If I live out-of-town or internationally, how often will I need to visit IVF Phoenix™? How long will I need to stay?2022-12-01T14:33:54+00:00

IVF Phoenix™ requires out of town egg donors or recipients to visit our clinic initially, then if coordinated efficiently and if there is good offsite monitoring, we can expect the patient, to be seen by us at the end of the stimulation cycle, or at the peak of estrogen administration for endometrial development.  Unlike many other clinics, mock cycles are not necessarily required. Depending on your circumstances, you will most likely need to be here for five to nine days. This is something your donor egg/ART coordinator will help determine.

One option that some couples choose is to have the male partner visit IVF Phoenix™ for sperm collection prior to the couple’s visit for the woman’s cycle. This option requires the man to travel to IVF Phoenix™ one time, and the couple to travel to IVF Phoenix™ one time.

Can I exercise while I’m undergoing IVF treatment?2022-12-01T14:33:26+00:00

Yes, but you should refrain from high-impact exercise and opt for workouts such as walking, swimming, yoga, or cycling during IVF treatment. Leading up to the beginning of the IVF cycle you may exercise as you normally do, but as you get closer to the egg retrieval we will ask that exercise be modified for health and safety reasons.

When will my egg retrieval be scheduled?2022-12-01T14:33:00+00:00

We won’t know the exact date of egg retrieval until two days prior to the procedure. We typically estimate it about 12-15 days from the start of your  superovulation medications.

Testimonials

This is hands down the BEST fertility clinic in all of Az. Dr. Couvaras and Rhoda are amazing!! Not only are they compassionate and helpful beyond expectations they really look at the whole body and systems and get to the root of the problem. If you are even thinking about fertility go see this place first!

Hope L. , From Yelp

My husband and I are so thankful for Dr. Couvaras and staff. We were struggling to have a family and stumbled across the IVF Phoenix website. We are from Canada and the staff was fantastic to deal with and very accommodating to work with. We always had support no matter what time of the day. We now have the most perfect beautiful little boy to complete our family!!! So grateful and blessed!!!

Jolene, From Facebook Page

From the moment we met Dr. Couvaras, My husband and I felt totally comfortable, secure, and well informed. Additionally, the nurses and staff at IVF Phoenix provided prompt, efficient care with both expertise and patience. Whether ordering prescriptions, educating me on how to properly administer medications or explaining options and probable outcomes of specific treatment protocols, Dr. Couvaras, and his team were simply remarkable. I never felt alone, and appreciated the close guidance they provided throughout our entire treatment. I couldn’t be happier with the results! My husband and I are now 12 weeks pregnant, and are absolutely thrilled! I would recommend Ivf Phoenix to anyone who is interested in finding the cause of their infertility. We love and appreciate everyone at Ivf Phoenix, they are a 2nd family to us. We still can’t thank them enough for making our dreams come true!

Jaden, From Facebook Page

The staff and Dr. Couvaras were so kind and understanding. They called me by name as soon as I walked in. Dr. Couvaras was incredibly knowledgeable and knew from the first visit what was going on and after tests came back he was 100% right. He was informative, personable and took care of my health needs as a priority. I never felt left on the back burner. Innovative for sure because now I have 3 amazing children!

Source Fertility IQ

Dr. Courvaras is the best there is in the infertility world!! Our first baby is here because of him and his team. Our baby is 17 and will be graduating from high school in less than a month!! We have never forgotten him and the gift he helped us have!!

Zena, From Facebook

IVF Bundled Packages
(Self Pay)

IVF WITH FRESH EMBRYO TRANSFER

$5800

Includes:

  • EGG RETRIEVAL

  • IN-CYCLE ULTRASOUNDS

  • IN-CYCLE LABS

  • ASSISTED HATCHING

  • 1ST FRESH EMBRYO TRANSFER

Excludes:

  • ICSI

  • EMBRYO CRYOPRESERVATION

  • EMBRYO STORAGE

  • ANESTHESIA

  • EMBRYO BIOPSY FOR PGTA TESTING

  • MEDICATIONS

IVF WITH FROZEN EMBRYO TRANSFER

$7250

Includes:

  • EGG RETRIEVAL

  • IN-CYCLE ULTRASOUNDS

  • IN-CYCLE LABS

  • ASSISTED HATCHING

  • EMBRYO CRYOPRESERVATION

  • 1ST FRESH EMBRYO TRANSFER

Excludes:

  • ICSI

  • EMBRYO STORAGE

  • ANESTHESIA

  • EMBRYO BIOPSY FOR PGTA TESTING

  • PRE AND POST EGG RETRIEVAL PROCEDURE

  • FET BASELINE SCAN

  • MEDICATIONS

IVF WITH BIOPSY & FROZEN EMBRYO TRANSFER

$9500

Includes:

  • EGG RETRIEVAL

  • IN-CYCLE ULTRASOUNDS

  • IN-CYCLE LABS

  • ASSISTED HATCHING

  • EMBRYO CRYOPRESERVATION

  • EMBRYO BIOPSY FOR PGTA TESTING

  • 1ST FRESH EMBRYO TRANSFER

Excludes:

  • ICSI

  • EMBRYO STORAGE

  • EMBRYO CRYOPRESERVATION

  • ANESTHESIA

  • PGTA GENETIC TESTING (3RD PARTY LAB)

  • PRE AND POST EGG RETRIEVAL PROCEDURE

  • FET BASELINE SCAN

  • MEDICATIONS

* Once you have completed your consultation with one of our providers, we would be happy to customized a multi-cycle package for you if you are considering embryo banking.

Services

IVF

Egg Freezing

Reciprocal IVF

IUI

Confused about the next steps to successfully conceive and carrying to live birth?

Resources

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Partner Insurance

Please note that the following listed insurance companies are those that we currently partner with. Please call your insurance provider and check to see if your treatment or procedure will be covered.

IVF Phoenix™ is proud to be a Center of Excellence with United Healthcare/Optum

Arizona Foundation (AZFMC)

Blue Cross Blue Shield

Aetna

Zelis

Humana

WebTPA

MultiPlan

Banner Aetna

Bright Health Care

GEHA

Gilsbar

Cigna

UHC All Savers

Medica & Mayo Medical Plan

Meritain

AmeriBen

Private Healthcare Systems

TRICARE

UMR

Liberty Healthshare

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