Diagnostic Testing2023-04-26T15:27:52+00:00

Diagnostic Testing

Genetic Carrier Screening / Ovarian Reserve Testing

Diagnostic Testing

Genetic Carrier Screening / Ovarian Reserve Testing

What is genetic carrier screening and why is it part of your infertility work-up?

Carrier screening is a blood test performed to determine if you are a carrier for common genetic diseases that can be inherited. Most individuals are silent carriers, which means they only have one copy of the mutation within a gene, allowing the gene to function properly. By performing genetic carrier screening before pregnancy, it allows you to prepare for possible pregnancy risks and enables you to learn about your reproductive options.

According to the American College of Obstetrics & Gynecology (ACOG) and the American College of Medical Genetics and Genomics (ACMG) the recommendations for testing specific conditions includes the following:

Cystic Fibrosis

Cystic fibrosis (CF) is a life-threatening, multiorgan disease that affects the lungs, pancreas, gastrointestinal tract and reproductive tract. CF is caused by a mutation in the CFTR gene. According to the Cystic Fibrosis Foundation, the current median age of survival is 42. This disease is most common amongst the white population. As a result, sensitivity of screening can vary across differing populations. There are hundreds of known variants, however screening only includes the most common ones. This means that after screening, there is still a small residual risk of being a carrier.

Spinal Muscular Atrophy (SMA)

SMA is an autosomal recessive disease in the gene SMN1 that causes degeneration of the spinal cord motor nerves. Individuals affect do not produce enough protein called  survival motor neuron (SMN) causing motor neurons to die. This leads to severe muscle weakness that can cause paralysis and death. Carrier frequency in the general population is 1/40-1/60, however can vary by ethnicity. For examples, Ashkenazi Jews have a higher risk of being carriers compared to the Hispanic population who have a lower carrier frequency. To date, there is no treatment for SMA.

Sickle Cell Anemia

Sickle cell anemia is an autosomal recessive disorder that causes an abnormal hemoglobin shape. Hemoglobin is a protein that is responsible for carrying oxygen for the body’s tissue and returns carbon dioxide back to the lungs. Carriers are said to have sickle cell trait and may have mild symptoms of anemia. Sickle cell disease is more severe and can result in occlusion in the blood vessels (vasoocclusive crisis) causing interruption of blood supply to organs. This results from acute illness, decreased oxygenation and stress. Repeat vasoocclusive crisis long term, can result in organ failure. These crises are often very painful and requires hospitalization. Sickle cell anemia results from having two copies of a single amino acid change in the -globin gene from glutamate to valine in the number 6 position of the protein. Approximately 1/10 African Americans have sickle cell trait.

Fragile X Syndrome

Fragile X syndrome is the most common form of inherited intellectual disability and autism, which can vary in severity. Fragile X is an x-linked inherited disorder that primarily affects males, caused by an expansion of trinucleotide repeat in DNA, cytosine-guanine-guanine (CGG) on the FMR1 gene. The normal number of repeats is 5-44, and 55-200 repeats is considered a pre-mutation. A person with 55-200 repeats does not have features of Fragile X syndrome but is at higher risk of developing a tremor/ataxia. In women, the pre-mutation may present as primary ovarian insufficiency (previously, premature ovarian failure). When greater than 200 repeats are present, this is considered a full mutation causing the FMR1 gene to become inactive and causes Fragile X syndrome.

Cystic Fibrosis

Cystic fibrosis (CF) is a life-threatening, multiorgan disease that affects the lungs, pancreas, gastrointestinal tract and reproductive tract. CF is caused by a mutation in the CFTR gene. According to the Cystic Fibrosis Foundation, the current median age of survival is 42. This disease is most common amongst the white population. As a result, sensitivity of screening can vary across differing populations. There are hundreds of known variants, however screening only includes the most common ones. This means that after screening, there is still a small residual risk of being a carrier.

Spinal Muscular Atrophy (SMA)

SMA is an autosomal recessive disease in the gene SMN1 that causes degeneration of the spinal cord motor nerves. Individuals affect do not produce enough protein called  survival motor neuron (SMN) causing motor neurons to die. This leads to severe muscle weakness that can cause paralysis and death. Carrier frequency in the general population is 1/40-1/60, however can vary by ethnicity. For examples, Ashkenazi Jews have a higher risk of being carriers compared to the Hispanic population who have a lower carrier frequency. To date, there is no treatment for SMA.

Sickle Cell Anemia

Sickle cell anemia is an autosomal recessive disorder that causes an abnormal hemoglobin shape. Hemoglobin is a protein that is responsible for carrying oxygen for the body’s tissue and returns carbon dioxide back to the lungs. Carriers are said to have sickle cell trait and may have mild symptoms of anemia. Sickle cell disease is more severe and can result in occlusion in the blood vessels (vasoocclusive crisis) causing interruption of blood supply to organs. This results from acute illness, decreased oxygenation and stress. Repeat vasoocclusive crisis long term, can result in organ failure. These crises are often very painful and requires hospitalization. Sickle cell anemia results from having two copies of a single amino acid change in the -globin gene from glutamate to valine in the number 6 position of the protein. Approximately 1/10 African Americans have sickle cell trait.

Fragile X Syndrome

Fragile X syndrome is the most common form of inherited intellectual disability and autism, which can vary in severity. Fragile X is an x-linked inherited disorder that primarily affects males, caused by an expansion of trinucleotide repeat in DNA, cytosine-guanine-guanine (CGG) on the FMR1 gene. The normal number of repeats is 5-44, and 55-200 repeats is considered a pre-mutation. A person with 55-200 repeats does not have features of Fragile X syndrome but is at higher risk of developing a tremor/ataxia. In women, the pre-mutation may present as primary ovarian insufficiency (previously, premature ovarian failure). When greater than 200 repeats are present, this is considered a full mutation causing the FMR1 gene to become inactive and causes Fragile X syndrome.

What happens if I am a carrier?

The next step involves testing your partner for variants in the same gene. If your partner is negative, then the risk of having an affected child is significantly reduced (but not zero). If you and your partner are both carrier for the same genetic disease then your risk of having an affected child is approximately 25%. Speaking with a genetic counselor will be important to help in making informed decisions on how to proceed. You have the option to undergo IVF with preimplantation genetic testing of single gene disorders (PGT-M) in order to reduce the risk of having an affected child.

When to get Ovarian Reserve Testing (AMH)?

As woman pass age 35, we call them Advanced Maternal Age, since pregnancy rates show a dramatic first decline, and adverse pregnancy outcomes increase. The current state of the art of evaluating potential egg quality and number-translation, the potential likelihood of a successful outcome, is to consider maternal age, cycle day three FSH/estradiol, and antimullerian hormone level, and basal antral follicle count. As with any new testing, AMH has yet to be understood in its role in determining ovarian reserve.  The common interpretation of AMH has been to assume it is a better indicator of ovarian reserve and as it declines, so does reserve.  This dropping AMH is noted with age, especially over 35, and as this value drops below 1, and becomes 0.8 or 0.54 to 0.24 and ultimately <0.16, patients are routinely counseled to consider donor egg.  Why?  Well, AMH does correlate with the number of basal astral follicles, and thus in an IVF cycle, fewer eggs correlate with lower rates.

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FAQs

Hysteroscopy for Fertility and Reproductive problems2022-11-30T19:13:24+00:00

Hysteroscopy is the inspection of the uterine cavity that allows for the diagnosis and treatment of various uterine conditions. Some of which, could lead to fertility problems.

Uterine Septum (Septate uterus)

This is the most common uterine malformation and a common cause of miscarriage. It is unclear whether a uterine septum increases the chances for infertility or not. A wedge of tissue is present inside the uterine cavity, which divides it into two halves (also called uterine horns).

When seen through a hysteroscope, the uterine horns are seen as two dark openings separated by a wedge of tissue. By introducing an electrode through the hysteroscope, the septum can be shaved or vaporized all the way to the top of the cavity. The finished product is a uterine cavity that is unified into one large space instead of divided in two.

Polyps

These are uterine growths a few millimeters to centimeters in size. Polyps arise from the uterine lining (endometrium). A polyp may be attached to the uterine wall directly or by a thin “stalk”.

Patients often have no symptoms from polyps but will occasionally notice irregular vaginal bleeding. This bleeding may occur in between periods or cause the period to be longer in duration or heavier than normal.

Polyps are also associated with an increased risk for miscarriage. Large polyps, which occupy the majority of the uterine cavity, are also probably responsible for infertility. Small polyps can be most easily vaporized in place. Polyps which are attached by a stalk can sometimes be removed by cutting through the stalk and removing the entire polyp through the cervix. Larger polyps may have to be removed by shaving small strips one at a time until the polyp is completely gone, or slightly deeper, taking a margin of the myometrium.  This tissue is sent out for pathology.

Fibroids

These benign tumors arise from the muscle layers of the uterus. Often they will stay in the muscle layer but on occasion, fibroids can grow into the uterine cavity. Like polyps, fibroids can cause bleeding, infertility, and as well as miscarriage. Removal of fibroids from the uterine cavity is performed using the same methods as for polyps.

Scar tissue

Scar tissue inside the uterine cavity, also called adhesions, can arise from infection or trauma to the uterine lining. Although rare, the most common cause for uterine adhesions to form is from a previous D&C procedure. Scar tissue inside the uterus can be small and isolated to a certain spot. This type of adhesion looks like a band running from one wall of the uterus to another. Sometimes adhesions take the form of two walls that are stuck together causing the cavity at that spot to be completely obliterated. In rare instances, the entire cavity can be obliterated. Uterine adhesions can cause infertility or miscarriage. If the uterine cavity is partially or completely obliterated, a woman may notice that her period are lighter or even stop altogether. Band adhesions can be easily cut restoring the normal anatomy of the uterine cavity. When the walls are stuck together, the surgeon must carefully dissect between them in order to separate the walls. This can be a very difficult process if there is little normal uterine cavity that remains to serve as a guide.

What do you need to do after a sonohysterogram?2022-11-30T19:12:35+00:00

You will be able to watch the sonohysterogram on a monitor while it is being performed. Afterwards, the doctor will review the findings with you and answer any questions about those findings. If there are any abnormalities that are found on the inside of your uterus, don’t worry! Nearly all of these conditions are easily corrected with minimally invasive, outpatient surgery (usually with hysteroscopy).

What do you need to do before a hysterosonogram?2022-11-30T19:11:52+00:00

Occasionally, a woman might experience some cramping during or after a hysterosonogram. If she desires, she may take 1-2 tablets of ibuprofen (Motrin or Advil) 1-2 hours before the procedure to decrease cramping. This may be repeated 3-4 hours later in the unlikely event that cramping persists.

How is a sonohysterogram performed?2022-11-30T19:14:53+00:00

The procedure for performing a sonohysterogram is very simple and usually takes about 5 minutes. In order to schedule a sonohysterogram, you will need to call with the first day of your period. You will be given an appointment for some time point after the bleeding from the period has ended but before it is thought that ovulation might occur. This ensures that the uterine lining is as thin as possible. This is important since it will assist the doctor in the visualization of the cavity. The hysterosonogram is performed in the office. Using a speculum, a very thin, soft, flexible plastic catheter will be inserted through the vagina and cervix into the lower part of the uterine cavity and a balloon is inflated.  The speculum is then carefully removed so as not to disturb the catheter. A vaginal ultrasound probe is then placed into the vagina. Through the catheter, a small amount of saline (sterile salt water) is injected into the uterine cavity to separate the walls.

During a sonohysterogram, the ultrasound probe can be rotated to show the long axis of the uterus or a transverse axis. In the long axis, the uterine cavity appears long and ovoid. Sometimes after the procedure, a small amount of the saline fluid may leak out of the vagina. It is also possible that the patient may experience some bleeding or spotting. It is recommended that the patient wear a light pad or tampon for the rest of the day.

What kind of problem can a hysterosonogram diagnose?2022-11-30T19:16:24+00:00

A hysterosonogram is often recommended for women who are having difficulty conceiving a pregnancy or for women who are having recurrent miscarriages. In some cases, a hysterosonogram may be used for a woman who is having abnormal vaginal bleeding. Since a sonohysterogram gives such a detailed view of the inside walls of the uterus, it can identify many abnormalities that might prevent a normal pregnancy from developing. Studies have shown that it can detect over 90% of abnormalities inside the uterus. Some of these abnormalities include:

  • Polyps
  • Fibroids
  • Scar tissue
  • Uterine septum
  • Bicornuate Uterus
What is a Sonohysterogram?2022-11-30T19:15:21+00:00

sonohysterogram or SHG is a saline ultrasound, saline sonogram, or saline infusion sonogram. A sonohysterogram is a minimally invasive ultrasound procedure that can determine if there are abnormalities inside the uterus that might interfere with pregnancy. It is important to have an evaluation of the uterine cavity with a sonohysterogram or other method before proceeding with an IVF cycle. This test involves no radiation, and there are very few risks from the procedure. Compared to a regular ultrasound, a sonohysterogram is better at detecting abnormalities on the inside walls of the uterus because it involves infusing sterile fluid inside the uterus. This way, the walls of uterus separate from each other and any abnormalities that might have been hiding right along the sides of the walls will be easily identified.

Here is an example to help understand why we do a sonohysterogram. Think of your uterus like a collapsed balloon. If there was a small growth or bump on the inside wall of the collapsed balloon, it might be hard to see since the top and bottom walls are touching each other. However, if we inflated the balloon, the small growth will be easier to see since it will likely be able to hang away from the wall.

Traditionally, the “best” way to look for abnormalities inside the uterus was a test called a hysteroscopy, which involves an out-patient surgery using a type of endoscope to look inside the uterus. However, in recent years, the techniques for a sonohysterogram have become so advanced that it has usually replaced hysteroscopy as the first procedure to look for abnormalities in the uterus. Compared to a hysteroscopy, a sonohysterogram is less invasive, less expensive and nearly as effective at detecting abnormalities.

What is an AMH test and what does it mean?2022-11-30T19:07:32+00:00

AMH or anti-mullerian hormone is a hormone produced by the viable follicles (which contain eggs) that remain in the ovary. It is an excellent indicator of ovarian reserve. Young women with large numbers of healthy eggs tend to have high AMH levels whereas older women or women with a low number of healthy eggs will have lower levels of AMH.  New information is suggesting that very high levels of AMH may not simply indicate a plethora of antral follicles, but may indicate a follicular dysfunction.

AMH levels do not fluctuate very much throughout the cycle and are not impacted by the levels of other hormones such as estrogen or progesterone.

Abnormal AMH levels are usually determined by comparing a woman’s own AMH level with that of a large group of women her own age who do not have infertility. For example, an AMH of 1.4 would be considered very low for a fertile 18-year-old but would be considered average for a 36-year-old.

Fertility decreases with age. This decrease is most likely due to aging of the eggs and the chromosomes inside them. The risk of miscarriage and chromosomal abnormalities in babies also increase with age. The most successful method for achieving a pregnancy and taking home a baby at advanced female age is with the use of egg donation.

Testimonials

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

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

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

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

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.

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