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Should We Be Worried About Our Donor’s Genetic Carrier Status?

September 27, 2016 by Marianne

Post by Gina Davis, MS, LCGC

Clients often ask how concerned they should be about genetic carrier status when they are considering working with an egg donor.  Ultimately, your decision to proceed with a donor when she is a known carrier of a genetic condition will depend on many factors.  The most important factor will be your gut level of comfort about genetic risk.  But you should have the opportunity to speak with a genetic counselor to get the important details straight concerning the condition, so that you can make the decision that makes the most sense to you.

Here is my take on the issue:

We are ALL carriers of genetic disease.  It is thought that there are somewhere in the range of 6,000 to 10,000 diseases caused by a single gene and it is believed that we all carry 4-5 mutations in genes critical to life.  Should we pair up with someone who carries a mutation in the same gene, and should a pregnancy receive both abnormal copies of the gene, the condition would be lethal.  Many of these conditions are recessive in nature, meaning that an individual who has no symptoms of the condition can pass the condition on to offspring.  If the condition is autosomal recessive, that means that two copies of an abnormal gene must be present in order for the disease to develop.  So both egg donor and sperm donor must pass on a mutation for the child to have the condition.  Given this information, I believe it is rather arbitrary to exclude a prospective donor just because we have a test today for one of the conditions for which she is a carrier.  As testing gets better, I think we’d have no candidates left if we excluded all known carrier donors! Rather than excluding known donors, I think it makes sense to dig deeper into the issues.

Can we provide reassurance by testing the other reproductive partner?  Carrier screening has come a long way in the past few decades.  Testing for carrier status for genetic disease began in the 1970s, with testing for Tay Sachs disease available for certain at-risk populations.  Since then, the genetic basis of more recessive conditions has become known, and more sophisticated screening options have come on the scene, year after year.  Today, many patients elect expanded carrier screening panels that can identify over 90 conditions in a single cheek swab or blood sample.  Just a few years ago, when one reproductive partner came back positive, I would compare and contrast the various “panel” approaches to testing offered by the many genetic labs on the market, offering the test with the best coverage for known mutations to my clients, and discussing the relative costs of each.  Panel testing would incorporate the most common known mutations in the gene, and would often provide significant reassurance that the matched reproductive partner was likely not a carrier for the same condition.  Sometimes a patient would foot a bill for $3000-$5000 to sequence the gene for the greatest reassurance.  Sequencing a gene means looking at every DNA base in the genetic code for that gene, essentially “spell-checking” it for any errors.  But today, many genes can be tested via Next Generation Sequencing, which targets and sequences the coding regions of the gene, and can often be conducted at a price tag of under $1000.  Even with sequence analysis, we can never reduce a risk to zero that an intended parent would be a carrier for a genetic disease, but we can get that number as close as possible.  While it is too much to go into here, a genetic counselor can review the condition about which you have concern, the expected medical course for an affected child, how well we understand the genetics of the condition, the sensitivity of the available carrier test(s) in the matched reproductive partner, and ultimately give you some perspective to make an informed decision that is consistent with your beliefs.

Research is not stopping.  Sometimes I hear of intended parents who are concerned about giving birth to a child who is a carrier (after a reassuring test in the other reproductive partner).  The issue I hear most often is that they are afraid that their grandchildren could then be at risk for the condition.  While I think it’s a fair concern, I think we need to be aware that–again–we are all carriers of genetic disease.  Choosing a donor who does not carry a KNOWN mutation does not mean you are choosing a donor who does not carry a mutation.  Our children will most likely have even broader options for carrier screening, for themselves and their reproductive partners.  And the immense research into genetic disease does not only benefit carrier identification that allows parents to make informed choices about genetic risk.  It also fuels new therapeutic strategies.  There is exciting new data on therapeutics coming in, in the areas of cystic fibrosis and lysosomal storage disorders, to name a few.  Who knows what conditions will be treatable in the next generation?

What are YOUR preferences for a donor?  I think this is the area that merits the most attention.  Choosing a donor is not easy, and you need to weigh your thoughts and feelings about a multitude of factors.  Sometimes a donor that seems ideal on so many fronts will turn out to be a carrier of a genetic disease.  Spend some time talking with a genetic counselor, get the information you need, and consider testing your reproductive partner if you feel the testing strategy could give you enough reassurance.  You might come out of this process choosing the donor, or you might come out this process knowing you did your due diligence, and she is just not the right one for you.

Please note:  While I think it is reasonable to work with a donor who is a carrier of an autosomal recessive condition, I do not advise working with donors who are carriers of X-linked conditions, such as Fragile X.  The genetic risk in such a situation is much more significant, given the pattern of inheritance.  The American Society of Reproductive Medicine practice committee also does not recommend working with a donor who is a carrier of an X-linked condition, but states that “donors who are heterozygous (for an autosomal recessive condition) need not necessarily be excluded if the reproductive partner has had appropriate carrier screening.  The recipient and reproductive partner

(as appropriate) should be counseled about the accuracy of the carrier screening test and the residual risk to be a carrier following a negative test. Counseling regarding residual risk is complex and may be best provided by a genetic counselor.”

Disclaimer:  Please keep in mind that the information provided here is not meant to be a medical opinion about your specific case. The problems of every patient are unique and should be addressed by their physician or other health-care professionals in an individual conversation. You are welcome to bring up questions inspired by this blog post with your medical team. However, no one should use this blog as a source of medical care.

Gina Davis is a licensed, board-certified genetic counselor, who specializes in the field of reproductive medicine (infertility, assisted reproductive technologies and pre-implantation genetic diagnosis). She served as a genetic counselor at the University of California, San Francisco’s Center for Reproductive Health from 2004 to 2013. While studying to become a genetic counselor, Gina served as a medical assistant at two private fertility practices in Southern California, and conducted research at a UC Irvine molecular genetics lab. She has been immersed in the field of reproductive medicine her entire career, and brings a wealth of knowledge in working with both practitioners and patients. Gina has helped to shape the role of the genetic counselor within the field of Reproductive Medicine. She has assisted in the training of fellow genetic counselors, physicians, nurses, other health care practitioners and undergraduate students in reproductive genetics through lectures, small group facilitation and mentoring. She has given numerous presentations at professional and patient support meetings, and has been co-author of diverse publications within the field. Gina is the past chair and current member of the Genetic Counseling Special Interest Group of the American Society of Reproductive Medicine (ASRM). She is an active member of the Assisted Reproductive Technology Special Interest Group of the National Society of Genetic Counselors (NSGC). She has also worked as a volunteer with Resolve and the March of Dimes.

Filed Under: Uncategorized

Fertility Specialists is Excited to Announce the Addition of Dr. Kristi Maas to the FSMG Team

July 14, 2016 by Marianne

Dr Maas

It is with great pleasure that we introduce our new physician to Fertility Specialists Medical Group, Dr. Kristi Maas.

Dr. Maas joins us from Boston, where she completed her training in Reproductive Endocrinology and Infertility at Beth Israel Deaconess Medical Center/Harvard Medical School.

While in Boston, Dr. Maas presented her research on IVF outcomes at several national meetings as well as served on multiple hospital committees focusing on patient care.

In her free time, Dr. Maas enjoys running with her husband and dogs and looks forward to exploring our wonderful San Diego County trails!

Dr. Maas has appointments available at our Frost Street locations as of August 1st, 2016.

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Filed Under: Uncategorized

Healthy Mom… Healthy Baby!

September 30, 2014 by Marianne

Post by Dr. Wendy Shelly

At FSMG, we always say “A healthy mom is a healthy baby.” This is why we actively screen pre-conception for thyroid conditions, anemia and genetic carrier status. It is also why we promote a healthy weight and blood pressure. The data in the medical literature is quite clear that obesity impacts pregnancy rates and pregnancy outcomes. To help our patients improve their health, we often provide seminars on nutrition. Keep an eye on our Facebook page for upcoming events. We also have several nutritionists to whom we can refer should you have specific concerns.

We also promote exercise, both prior to and during pregnancy. We even have our staff on board when it comes to encouraging exercise! We sponsor monthly enrollment in 5K/10K/Half-marathons and Full Marathons for our staff. If we can do it, you can too!photo (2)

The FSMG running team gears up for the 2014 Solana Beach Sunset Run!

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Filed Under: Uncategorized

Using a Gestational Carrier… Where to Start

September 29, 2014 by Marianne

Post by Dr. Wendy Shelly

Gay men desiring to start a family need assistance coordinating the complex process of egg donation and gestational carriage (surrogacy). Choosing your egg donor (whether anonymous or a friend) and a healthy, appropriate gestational carrier (GC) (whether commercial or a friend) are the  most important elements to ensure success.

With this in mind, I recommend beginning with a medical consultation with a board-certified Reproductive Endocrinologist (fertility specialist).  This 2-3 hour visit will usually cost $250-$300 and is not covered by most insurance policies. You will meet with multiple team members who will be helping you on your journey.  A fertility specialist will:

  • Assess you (and/or your partner) for sperm quality and its use
  • Screen potential egg donors for suitable egg quantity and health/genetic history
  • Some fertility centers, like ours, have their own pre-screened anonymous egg donor pool
  • Evaluate GC for likelihood of successful term delivery
  • Explain and perform mandated (FDA) infectious disease screening on required parties
  • Coordinate and conduct the actual getting pregnant part (IVF)

A fertility specialist will help you develop an efficient “Family Plan”, taking into account the number of children you ultimately desire. They will counsel you regarding options such as pre-implantation genetic screening, which tests embryos for chromosomal abnormalities prior to transferring them to your gestational carrier. This can improve implantation rates and decrease risk of miscarriage or IVF failure, potentially decreasing overall costs to delivery.

Once you have established care with a fertility specialist, you then have a firm grounding to move forward selecting the egg donor and GC. Some fertility clinics have their own pool of egg donors, which gives them the ability to screen donors to their own high standards as well as the opportunity to know them on a more personal level. Most specialists also work with egg donor agencies.  If you have a friend or family member willing to donate eggs, they too can be screened by your fertility specialist. It is worthwhile to invest in appropriate screening for donors to ensure you have a healthy candidate to maximize your chances for pregnancy. This should include assessment of ovarian reserve with an ultrasound and an AMH (anti-mullerian hormone) level as well as basic genetic screening, including at a minimum Cystic Fibrosis. Certain ethnic groups may have additional genetic screening recommended. Most anonymous donors are compensated between $5,000 – $10,000 per cycle, though this varies from clinic to agency.

For a gestational carrier, I recommend you retain the services of a gestational carrier agency. Agencies will have a fee for their services, which usually includes finding a carrier, coordinating with your fertility specialist, and shepherding you and your carrier throughout the pregnancy. Most gestational carriers receive compensation around $30,000 – $50,000, with some fee retained regardless of whether a delivery occurs.  It is important to obtain a clear list of services included in your fee package to assist you in understanding you final overall cost. Your gestational carrier should be evaluated by your fertility specialist or an obstetrician prior to an embryo transfer to ensure she is a good candidate to carry an uncomplicated pregnancy to term. You will also want to have an informed discussion with your physician and gestational carrier regarding the number of embryos to transfer and the risks associated with multiple gestations. Your gestational carrier agency can also help you hire an attorney. An attorney will draft contracts between you, your donor and your carrier as well as set up an escrow account to assist in payment for services.

Financially, fees will be associated with each member of your team – your fertility specialist, your gestational carrier agency and gestational carrier, your donor and your attorney.  Total cost to delivery is usually around $90,000 -$110,000.

Some costs to consider:

  • Agency fees
  • Egg donor and gestational carrier compensation
  • Legal fees
  • Medical costs of IVF
  • Medications
  • Obstetrical costs
  • Insurance

Using an egg donor and a gestational carrier is a realistic and rewarding way to build a family and can run smoothly with the right team members. Take the time to research and find a fertility specialist and gestational carrier agency to guide you through this complicated and exciting process!

 

Filed Under: Uncategorized

I am thinking of getting pregnant: Do I need to change my life?

September 29, 2014 by Marianne

Post by Dr. Wendy Shelly

Once you and your partner start thinking about having children, the question invariably comes up: Do we need to change our lifestyle? Eat differently? Drink less? Confine ourselves to the house and play Scrabble while drinking only filtered organic juices and fermented mung beans?

Well, the answer is no … and maybe a bit yes.  Here are my general recommendations for anyone considering pregnancy in the next 6-12 mos.

LIFESTYLE FACTORS

  • Stress – attempt to minimize, incorporate coping techniques into daily life
  • Tobacco – discontinue if using (live birth ↓ 50%, miscarriage ↑265%) and avoid second-hand smoke (live birth ↓25%; treatment success ↓52%)
  • Alcohol – recommend < 5 drinks/week  (womenandalcohol.org)
  • Caffeine — < 200 mg/day (2 small cups of coffee)
  • Exercise – encourage a minimum of 30 minutes/day, 5 days/week and maximum dependent on exercise tolerance, body type

NUTRITION

  • BMI should be between 18 – 26; maintenance of a healthy weight can improve your chances of conception and aid in a healthy pregnancy, baby, and child.
  • Adopt a well balanced diet consisting of healthy carbohydrates, lean protein and fat  that includes plenty of fresh fruits and vegetables.
  • Avoid/cut back on highly processed/refined foods.
  • Add a prenatal vitamin with at least 800mcg folic acid.

Filed Under: Uncategorized

Vitamin D and Infertility

April 28, 2014 by Marianne

Vitamin D and Infertility

Post by Megan Ogle, RN.

4/28/14

Vitamin D deficiency can be the cause of many disease states, but it is most recently concerning to our practice, as new evidence suggests it plays a role in infertility.  Specifically, we’re learning that vitamin D affects embryo implantation and placenta formation.

So how do you know if you’re getting enough of the sunshine vitamin?  A simple blood test will reveal normal levels or deficiency.  Here at FSMG, we’ve added this test to our standard diagnostic protocol in an effort to stay ahead of the curve in the field and provide the best care possible to our patients.  The Endocrine Society and the American Congress of Obstetricians and Gynecologists (ACOG) suggest a maintenance dose of 600 IUs per day if levels are normal.  If you are found to be deficient, the recommendation is 1500 to 2000 IUs per day for non-pregnant women and 1000 to 2000 IUs per day for pregnant women.

Vitamin D can be synthesized by the body with sun exposure, obtained in the diet, or supplemented.  Skin exposure unprotected by sunblock for 5 to 30 minutes two to three times per week is required to sustain adequate vitamin D levels.  Very few natural food sources contain vitamin D, which is why it has been fortified in foods like cereals and dairy products. The following table is a list of foods containing the highest concentrations of vitamin D.  If you’re going to supplement vitamin D, we suggest purchasing a brand with “USP” (United States Pharmacopeia) or “NSF” (National Science Foundation) verification on the label.  These seals ensure quality manufacturing practices, product safety, and proper labeling.  Additionally, the USP seal verifies that the product has been independently tested for purity, potency, and dissolution time.

Vitamin D Chart

Filed Under: Uncategorized

FSMG Recognizes National Infertility Awareness Week with Four Night Event Series

March 22, 2013 by Marianne

In reocgnition of 2013’s National Infertilty Awareness Week, FSMG will be hosting a four-night event series, aimed at educating and informing the San Diego community about fertility, reproductive health and family building options. All events are complimentary, and open to our current patients and the San Diego community.

All events will run from 5:30-7:00 PM, and be held at FSMG’s office, 8010 Frost Street, Suite P. San Diego, CA 92123.

Please RSVP to one (or all!) of these events at info@ivfspecialists.com or 858.505.5500.

Monday, April 22nd: When to see a Fertility Specialist-Presented by Dr. Arlene Morales and Dr. Wendy Shelly

The idea of building a family seems like a simple concept. But for 1 out of every 8 couples in the US, having children is a real, and difficult issue. Join us as we hear from Dr. Arlene Morales and Dr. Wendy Shelly speak on when it is time to see a fertility specialist. Other topics will include; how do doctors diagnosis infertility? What types of treatment options are available? How much does infertility treatment cost?

Tuesday, April 23rd: Inside the Embrylogy Lab: A Look at the Embryology Lab’s Role in Fertility Treatment- Presented by Kate Pache and David Cragun

An embryology lab is a vital piece of infertility treatments, although much of the processes that take place there are relatively unknown. Join us as embryologist Kate Pache speaks on the behind-the-scenes of an embryology lab, and the lab’s role in fertility treatments! This event is complimentary, and open to the San Diego community.

Wednesday, April 24th: The Male Factor: Male Infertility Diagnosis and Treatments-Presented by Dr. Mike Hsieh

Infertility is often seen as a “women’s disease”, when in reality, a couple’s infertility is caused by a male factor in 50% of cases. Join Dr. Mike Hsieh as he discusses male infertility diagnosis and treatments. This complimentary event is open to the San Diego community.

Thursday, April 25th: The Emotional Stages and Coping Stratigies of Infertility- Presented by Laura Carr, PhD.

The emotional toll of infertility can often be overwhelming. Understand the emotional stages of infertility may help the process. Join us as Laura Carr, PhD, talks on the emotional stages of infertility, and the different coping mechanisms individuals practice. This event is complimentary to current patients and the San Diego community.

 

Filed Under: Uncategorized

GSDBA’s Connections Features an Article by FSMG’s Dr. Wendy Shelly

January 25, 2013 by Marianne

 

Fertility Specialists Medical Group’s own Dr. Wendy Shelly was featured in the January 2013 edition of the Greater San Diego Business Association’s “Connections” magazine!

Her article explores the unique challenges of starting a family for same sex couples or individuals, and gives excellent information on the various options these couples and individuals have to start a family of their own.

Click on the link below to read the article, and let us know what you think!

January 2013 GSDBA “Connections”

Filed Under: Uncategorized

FSMG Announces the First of Their 2013 Monday Night Classes

December 18, 2012 by Marianne

 Fertility Yoga

Led by Yoga Jai Ma’s Heidi Brockmyre

Fertility Specialists Medial Group is excited to announce the first of their “Monday Night Classes!” Join us for a complimentary fertility yoga class, held by Yoga Jai Ma’s Heidi Brockmyre.

Fertility Yoga
Monday, January 7th, 5:45-7:00 PM
FSMG office
8010 Frost Street, Plaza Level. San Diego, CA 92123
 

Heidi Brockmyre is an experienced yoga instructor, as well as a licensed acupuncturist at San Diego’s Zen Fertility. She is also the creator of the “Positively Fertile” program, an online program that includes meditation, self-acupressure sequences, a dietary program, and more. We are thrilled to have her come and teach our patients and the San Diego community about the benefits of fertility yoga! You are welcome to bring your own yoga mat, or use one of ours.

 

RSVP by emailing Info@IVFSpecialists.com or calling 858.505.5500.

We hope to see you there!

Filed Under: Uncategorized

Using Donor Eggs: The End or the Beginning?

April 19, 2012 by Marianne

Using an egg donor represents an opportunity for many women to experience a pregnancy and deliver a healthy baby. According to the American Pregnancy Association, more than 3,000 babies are born each year as a result of egg donations. For many couples, using a donor egg is a first choice, while others use the procedure as a last resort.

The prospect of using a donor egg to get pregnant scares some women. Facing the decision to use egg donation, however, doesn’t have to feel like the end of the road; it can also be a beginning—the beginning of your family.

You don’t have to wait until you’re at your wits’ end. Whether you’ve tried every other means of getting pregnant or you already know that you can’t conceive, using an egg donor can pave the way to the child you’ve always wanted, a child that you carry to term. Egg donation is a safe, highly effective way to build your family.

Our San Diego fertility clinic has the facilities, the personnel, the experience, and the program to increase your odds of conceiving a healthy baby by using a donor egg. At Fertility Specialists Medical Group, you have a greater than 50 percent chance of carrying a pregnancy to term using donor eggs, even if you’re over 40 years old. Our egg donor program has seen remarkable outcomes.

If you have genetic abnormalities or underwent cancer treatment that caused you to become infertile, you may be an ideal candidate for receiving donor eggs. If you’ve gone through early menopause, egg donation provides a way for you to carry a baby. Even if advancing age is the reason you can’t conceive, you don’t have to give up on becoming a parent.

Once you make the decision, we will evaluate your medical history, general health, and uterus to optimize your chances for a healthy, successful pregnancy. Your choices of a donor aren’t limited, either. You can use the eggs of a family member or friend, or you can choose one of the anonymous San Diego-area egg donors through our Third Party Reproduction program. You’ll feel safe because we follow strict FDA-approved guidelines for donation procedures and testing. Donor screening is extensive at FSMG; we carefully evaluate the donor’s daily living habits, family history, medical background, and mental health.

If you use an anonymous donor, you play a role in selecting the candidate. You decide which traits your ideal candidate should possess. You can choose characteristics such as hair and eye color, stature, and ethnicity to increase the odds your baby will resemble you. The legalities of the process are taken care of through detailed contracts designed to protect your parenting rights and the anonymity of the donor.

We’re proud of the little bundles of joy our egg donor program has helped bring into the world. So if you find yourself considering egg donation, think of it as the end and the beginning: the end of your troubles and the beginning of your family.

Filed Under: Egg Donation Tagged With: donor eggs, egg donation, egg donors san diego, fertility clinic, infertility san diego, san diego fertility clinic

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