Genetic Testing: Medical Miracle or Ethical Quandary?

Medical contribution by: Eric A. Widra, M.D.

Eric A. Widra, M.D., Medical Director of SGF

Eric A. Widra, M.D., Medical Director of SGF

Since the dawn of modern medicine, the medical community has worked to make human life better and longer. They create vaccines, search for disease cures, and aim to eradicate physical ailments that affect the human condition. But what if these ailments and diseases could be avoided before you were ever born? What if your parents could insure that you would not suffer from maladies that had previously afflicted their family, or maybe that they did not even know they were susceptible to?

The March 2015 issue of Women’s Health looks deeper into these questions and examines genetic testing from the standpoint of fertility medicine. Fertility centers around the world (including Shady Grove Fertility) offer preconception genetic screening  to prospective parents in order to determine if the female or male carry genetic abnormalities that could affect their future children.  These are simple blood or saliva tests performed for the prospective parents.

“Additionally, we offer preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS) to examine the embryos themselves after in vitro fertilization (IVF). These techniques allow us to select embryos that will be free of specific genetic disorders or chromosomal abnormalities,” says Eric A. Widra, M.D., Medical Director of Shady Grove Fertility.

While centers like SGF offer PGS and PGD for medical reasons only, there are other centers who contribute to what Women’s Health calls ‘designer babies.’ One center discussed in the story allows for gender and eye color selection and is looking into height selection. Researchers around the world have been searching for the genes that would denote athleticism, intelligence, hair color, skin color, and more.

When people read stories like this, it can create alleleconcern about where fertility science is going and what is and is not ethically sound. SGF takes these concerns very seriously and regularly works with its ethics committee to guide its decision-making. “Concerns about ‘designer babies,’ though, take away from the incredible medical benefits that PGS and PGD provide to patients and their future children. Moreover, the ability to find embryos with specific traits that are also chromosomally normal has been dramatically overstated by these practitioners and the media. This is a vastly complex field,” comments Dr. Widra.

Preconception Genetic Screening Offers a Path Forward

SGF endorses preconception genetic screening (PGS) when planning for pregnancy, offering testing to the female and male partner for over 100 different diseases and syndromes. While we strongly recommend PGS due to its benefits to patients and their future children, patients do have the choice to opt out of testing. If they choose to be tested, genetic screening will test for recessive gene mutations in the following categories:

  • mutations that are common in a certain ethnic group (for example: sickle cell anemia or Tay-Sachs disease)
  • mutations that have some likelihood of causing serious disease in affected offspring

DNATo perform this testing, Shady Grove Fertility will provide patients with a testing kit that both partners will need to return to our center for testing. Once Shady Grove Fertility obtains the DNA from either a blood or saliva sample, we send the kit to a genetic testing laboratory and results will arrive to the patient and physician within 2 to 3 weeks.

Though patients are often concerned when they test positive for genetic mutations, this is quite normal due to the vast size of the screening panel, and it is only problematic if both partners carry the same mutation. Dr. Widra says, “A positive test result does not always guarantee that embryos will be affected. Additionally, many mutations will not lead to a severe disease, and many couples choose no further action.” Patients who test positive for the same mutation will go on to complete genetic counseling that will present them with their options for management. If they do not desire to change their treatment protocol, their options are to skip additional testing or to wait and test during pregnancy to determine whether the child will be affected. For those patients who do want to take action based on their results, they have access to PGD.

Preimplantation Genetic Diagnosis: One of the Most Significant Advancements in Fertility Treatment

Preimplantation genetic diagnosis or screening (PGD/PGS) is a preimplantation genetic diagnosisrevolutionary medical treatment that reproductive endocrinologists hail as one of the most significant advances in the field of reproductive medicine. Physicians use this technique, which involves the biopsy of a few embryonic cells, in conjunction with IVF. This allows for the differentiation of healthy embryos and genetically-abnormal embryos, without causing any harm to the embryos.

“PGD/PGS improves the likelihood of a successful pregnancy and birth for two distinctly different groups of patients: couples with infertility related to recurrent miscarriage or unsuccessful IVF cycles, and couples who are at risk of passing on an inherited genetic disease to their offspring,” explains Dr. Widra.

For these ‘at risk’ couples, PGD/PGS reduces the potential for adverse pregnancy outcomes by testing the embryos for certain genetic abnormalities before choosing them for transfer. Once the testing is complete, the embryologist will only select the non-affected embryos for embryo transfer, thereby reducing the possibility of miscarriage or birth defect. Patients can choose to freeze, discard, or donate the affected embryo to research.

Shady Grove Fertility and the Ethical Dilemma of Genetic Testing

Shady Grove Fertility supports genetic screening of prospective parents and genetic testing of embryos—both of which present patients with the ability to protect their future offspring from serious diseases and syndromes. When it comes to genetic selection based on specific traits (eye color, height, etc.), though, SGF does not participate.

In the case of gender selection, we do not offer this as an option to patients as a personal choice, but patients can take their requests before the ethics committee in the event of health risks that may target only one particular gender. For example, “I’ve had patients say, ‘I have two boys with autism, and I think it’s more common in boys, so I would like to have a girl,’” says Dr. Widra. “A patient may very well bring this type of case for review before our ethics committee.”

Another issue that can arise related to genetic selection is cost. While preconception genetic screening is very reasonably priced, preimplantation genetic diagnosis is almost never covered by insurance and thus adds to the cost of IVF. While this cost is worthwhile to patients who want to protect their future offspring from serious disease, the cost becomes more difficult to qualify when it’s for trait selection. “Who would get to do the testing to give their kid a genius IQ? The 1 percent. I think society will rightly have issues with that,” says Dr. Widra.

While society will continue to debate the ethical questions related to genetic trait selection for years to come, SGF will continue to advocate for what is best for our patients and their future children. “…There are ethical issues, but we also now have healthy kids running around who once had a disease that was going to kill them,” says Dr. Widra. Patients now have the ability to do something that was never before possible in the history of the human race: protect their future children from mutations that could harm them. Ultimately, it is the patient’s choice as to whether or not they want to undergo PGS or PGD, but we firmly believe that the best decision is a well-informed one.

To learn more about genetic testing and if it is right for you, schedule an appointment with a Shady Grove Fertility physician by calling our New Patient Center at 888-761-1967.

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Learning the Lingo: Infertility Acronyms and Abbreviations

infertility-acronym-blog-headerIf you are just beginning your fertility treatment journey, you may be feeling confused and overwhelmed by the infertility acronyms and medical information—but you are not alone. Our patients have taught us that connecting with a community is one of the most valuable steps that they can take. The infertility community understands exactly what you are going through and can offer support and a listening ear. On our Shady Grove Fertility Facebook page—which has a community of over 16,000 members—you have the ability to talk with others in the same situation, obtain advice, and share your struggles and triumphs. This goes for any of SGF’s online communities, including Twitter, Pinterest, and Instagram.

As a newcomer to this community, you may be unfamiliar with a lot of the “lingo” and infertility acronyms that other people use online: TTC, 2WW, FSH, and hCG, just to name a few. To help you get more out of the conversations you’re having with others in the fertility community, including your medical team, we’ve assembled the following guide to teach you the most commonly used infertility acronyms and terms so that this seemingly foreign language can become accessible to you.

Common Infertility Acronyms and Abbreviations

A-G | H-P | Q-Z

AMH: AMH, or anti-Müllerian hormone, is the best predictor of a woman’s ovarian reserve. AMH is a protein produced by the granulosa cells in ovarian follicles. AMH blood levels are indicative of the size of the pool of follicles remaining; thus, as a woman gets older, the size of the ovarian follicle pool decreases and the AMH level also decreases, becoming undetectable at the time of menopause.

Beta:
A beta, or beta pregnancy test, is a blood test for the hormone hCG (human chorionic gonadotropin). Levels of hCG increase steadily in the early stages of pregnancy, showing physicians that a healthy pregnancy is progressing.

BW:
Bloodwork (BW) is a vital component of your infertility work-up. The bloodwork is testing for different hormone levels, which will help your physician establish a diagnosis.

DE:
DE, or donor egg, refers to donor egg treatment, which is needed by women who are unable to use their own eggs for conception, but can still carry a child in their uterus; women who have decreased ovarian function, premature ovarian failure, or genetic abnormalities; or same-sex male couples using a gestational carrier.

E2:
E2 refers to estradiol, or your level of estrogen. The estrogen level correlates directly with the number of follicles in your ovaries, helping physicians to estimate how many eggs you will have for retrieval during your cycle.

ENDO:
ENDO stands for endometriosis, a condition in which endometrial tissue grows outside of the uterus. This can often cause infertility if endometrial tissue attaches to other organs in your abdominal cavity, such as the ovaries and fallopian tubes.

FSH:
FSH, or follicle-stimulating hormone, is released by the brain to stimulate the ovarian follicles (tiny fluid-filled sacs within the ovary containing a maturing egg) to grow and develop.

GC: A gestational carrier is commonly used for women who are unable to carry their own child or for same-sex couples. Different than a “traditional surrogate,” gestational carriers have no biological link to the child(ren).

hCG: Human chorionic gonadotropin, or hCG, is a hormone produced during pregnancy. Levels of hCG increase steadily in the early stages of pregnancy, showing physicians that a healthy pregnancy is progressing. A beta pregnancy test specifically looks for hCG.

HSG:
A hysterosalpingogram (HSG) determines the condition of the fallopian tubes and uterus. When an HSG is performed, dye will be placed through the cervix into the uterus and fallopian tubes. An x-ray will determine if the uterine cavity is normal and the tubes are open. This is the best test to look at the tubes and also provides the opportunity to look at the shape and contour of the uterus.

ICSI: Intracytoplasmic sperm injection (ICSI) is a treatment utilized when the quantity or quality of sperm is too poor to effectively penetrate the egg on its own. An embryologist will select a single healthy sperm and inject it directly into the center of the egg. This has been an incredibly effective treatment for male factor infertility.

IUI:
Intrauterine insemination (IUI) is a low-tech fertility treatment that involves placing sperm inside a woman’s uterus to facilitate fertilization. Placing the sperm directly into the uterus makes the trip to the fallopian tubes much shorter, providing the sperm with a shorter distance to reach the egg.

IVF:
In vitro fertilization (IVF) is a method of assisted reproduction that involves combining an egg with sperm in a laboratory dish. If the egg fertilizes and the cells begin to divide, the resulting embryo is transferred into the woman’s uterus where it will hopefully implant in the uterine lining and further develop.

LH:
Luteinizing hormone (LH) is produced by the gonadotropin cells in the pituitary gland. In women, the rise of LH (known as the “LH surge”) triggers ovulation, or the release of the eggs.

MF: MF represents male factor infertility, which can occur from structural abnormalities, sperm production disorders, ejaculatory disturbances, and immunologic disorders. Nearly 40 percent of infertility is related to male factor.

OHSS: OHSS stands for ovarian hyperstimulation, a rare complication of ovarian stimulation. This occurs when a woman develops fluid in the abdomen and has enlarged ovaries.

P4: P4, or the hormone known as progesterone, is tested to determine the following:

  • if ovulation has occurred
  • when ovulation has occurred
  • if there has been an ectopic pregnancy
  • if there has been a miscarriage

Progesterone levels will surge before ovulation and should continue to rise if you become pregnant.

PCOS: Polycystic ovary syndrome (PCOS) is a disorder in which the ovaries produce excessive amounts of male hormones and develop many small cysts. These hormonal imbalances can prevent ovulation.

PGS:
Preconception genetic screening (PGS) can test prospective parents for over 100 different diseases and syndromes. Genetic screening may test for traits that are common in a certain ethnic group, that are recessive, or that may have some likelihood of causing serious diseases in affected offspring.

PGD:
Preimplantation genetic diagnosis (PGD) is a state-of-the-art procedure used in conjunction with IVF to select embryos that are free of chromosomal abnormalities and specific genetic disorders, in order to transfer the embryo to the uterus.

RPL: Recurrent pregnancy loss (RPL) is defined as two or more consecutive, spontaneous pregnancy losses before the pregnancies reach 20 weeks. Recurrent miscarriages can be attributed to a variety of factors, including a genetic defect, an abnormally-shaped uterus, fibroids, scar tissue, hormonal imbalances, and more.

SA:
A semen analysis (SA) must be performed prior to a treatment cycle in order to evaluate the sperm’s potential to fertilize an egg. A semen analysis tells your physician the number of sperm that are present, whether they are normal, and how well they move.

SI:
Secondary infertility (SI) is defined as the inability to become pregnant—despite engaging in unprotected intercourse—following the birth of one or more biological children who were born without the aid of fertility treatment or medications.

TTC:
TTC stands for trying to conceive. People generally consider ‘trying to conceive’ as the time period in which they have intentionally been trying to have a baby, but physicians consider it to be the entire time during which a couple is having regular, unprotected intercourse. Even if a couple is not intentionally trying to conceive, pregnancy should occur after approximately 1 year of unprotected intercourse.

2WW: 2WW is also known as the two week wait. It takes about two weeks from the time a fertilized egg implants in the uterine wall to start emitting enough of the hCG hormone to be detected by the beta blood pregnancy test. After the two weeks have passed, physicians can be reasonably sure that a pregnancy test result is accurate. This can often be one of the most stressful parts of treatment for patients, as they are waiting to discover if they have become pregnant.

US: Ultrasounds (US) are useful, not only during ovarian reserve testing, but also to detect abnormalities of the ovaries, uterus, and other structures in the pelvis.

Using these handy infertility acronyms, it’s time to get involved in the conversation and find support on your journey. Check out what’s happening with Shady Grove Fertility’s Facebook community today.

References:

Intrauterine Insemination (IUI) Fact Sheet. https://www.asrm.org/FACTSHEET_Intrauterine_Insemination_IUI/. Updated 2012. Accessed February 20, 2015.

If you would like to learn more about our online community and infertility acronyms, or would like to schedule an appointment, please contact the New Patient Center at 877-971-7755.

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Top Questions about Egg Freezing

Top questions about egg freezingThe Shady Grove Fertility Egg Freezing Program features patient education which includes monthly webinars and seminars to provide information for women who are interested in egg freezing.

Recently, Dr. Stephanie Beall, physician at local Shady Grove Fertility Maryland offices, hosted a live webinar. At the conclusion of the event, Dr. Beall answered insightful questions from participants, many of which were top questions about egg freezing.Overall the Q&A provided insightful information that could help more women who are interested in egg freezing. Read the Q&A below or click here to watch the recorded webinar.

  1. How many eggs would you recommend I freeze if I want to have, say, 2 children?
    A lot of this depends on the age in which a woman freezes her eggs and her ovarian function. For women age 37 and younger with good ovarian reserve, by freezing the recommended 15 to 20 mature eggs, the patient is setting herself up for multiple chances to deliver a healthy child. If the woman does not become pregnant on the first attempt and she has eggs remaining, she can try again. If she does become pregnant on the first try and eggs remain, she could try for a second child. Our recommendation would be for the same 37 year old woman seeking 2 children to freeze 30 mature eggs.
  2. You mentioned the Shady Grove Fertility success rate was 50 percent for women who froze at age 35 or younger; what is the success rate for women over 35?
    The success rates vary based on the age in which a woman freezes her eggs, but, on average, the chance of pregnancy using frozen eggs is 40 percent. Women who freeze at the age of 35 or younger have the highest chance for success when returning to use their frozen eggs—their success rate is around 50 percent. As age increases, the rate does start to decline. If the eggs are frozen between 35 to 37 years of age, success rates decrease to approximately 30 to 40 percent. If eggs are frozen between 37 to 40 years of age, then the success rate decreases to about 20 percent.
  3. What is the current success rate for pregnancy from frozen eggs nationally?
    Very good question. Each clinic is going to have different success rates due to egg freezing technique. Therefore, it’s important to discuss the success rates with that individual clinic.
  4. What is the technique used at Shady Grove Fertility that makes egg freezing successful?
    The technology used for egg freezing is vitrification, or a ‘fast freeze’ cryopreservation. While many fertility centers have adopted this technology, the skill and precision of the technicians is of the utmost importance. As one of the largest fertility centers in the country, we have years of experience both freezing and thawing both eggs and embryos. This is an important consideration when discussing or researching egg freezing.
  5. How long can my eggs remain frozen, and is there an age restriction for fertilization?
    Technically, once the eggs are placed in the liquid nitrogen, they are essentially suspended in time. For example, if a woman freezes her eggs at the age of 30 and comes back to use them in 5 years, they will be the same quality as when she froze them at age 30.
    For eggs specifically, the longest duration of storage was 12 years. In this case, the thaw of those eggs resulted in a healthy twin pregnancy so there were actually two healthy children. At Shady Grove Fertility, the latest a woman can come back to use her frozen eggs is 51 years of age.
  6. Specifically in regard to contraception or birth control, what do I need to do to prepare my body for egg harvesting/freezing?
    Recommendations for preparation are dependent on the type of birth control and personal medical history. Upon scheduling an appointment, a dedicated patient liaison will reach out to provide recommendations based on the current birth control method. Typically, for oral contraceptive pills, it is recommended to discontinue the pills for a time prior to checking ovarian reserve and starting treatment. This will allow time for the ovaries to recruit a large number of eggs and determine if a woman menstruates naturally. This information provides valuable insight into her egg freezing cycle potential.
    For other, more permanent forms of birth control, recommendations can vary. For example, women using an intrauterine device called copper T can leave the device in. However, for women using Mirena, because it is hormonal, we recommend having it removed because it can negatively impact the success of the cycle.
  7. If I live out of state, how would I freeze my eggs at Shady Grove Fertility?
    It depends on if patients have done any testing previously. If they have, we would go ahead and set them up for a free phone consult with the physician. If they have not, we would help them arrange testing closer to home, scheduled in a way so that we can get results back in a timely fashion. Once a woman completes the phone consult we would have her come in for an in-person consult—to meet with the physician, financial counselor, and nurse. The next time she would come in would be when she is actually cycling.
    While all monitoring for our egg freezing cycles is included in our price, patients have the option to do monitoring at a local fertility center.
  8. Is there an age restriction for (financial program) Assure 20/30?
    While there is not an age restriction for the Assure programs, qualification is primarily based on ovarian reserve test results. These results and the ability to utilize either the Assure 20 or Assure 30 financial programs will be discussed with the physician at the new patient appointment.
  9. What is the average cost of medication for an egg retrieval?
    The cost of medication is dependent on a patient’s ovarian reserve and insurance. Ovarian reserve test results help dictate dosage based on the anticipated response to medications. On average, the medications provided by Ferring Pharmaceuticals to Shady Grove Fertility ranges from $2,800 to $5,000 per cycle.
  10. I know that insurance will likely not cover egg freezing. Can I use my flexible spending account instead?
    Typically, because egg freezing is generally not covered by insurance, using an FSA is generally not an option. However, patients could try to seek reimbursement after the treatment. Women are encouraged to check with their insurance plan prior to starting any treatment. Financing is also available for egg freezing at Shady Grove Fertility.

To register for the upcoming webinar this Thursday, register here.
To schedule an appointment, please fill out this short form or call 1-877-411-9292.

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