Reproductive Health and Your Options

There is no one way to grow a family. Whether you know you carry a gene that can be passed on to your future children and want to explore your options, or you simply don’t know where to start, we’re here to help.

Table of Contents

    Here, we walk through general family planning tips, details on carrier screening, available reproductive options, and associated costs. Each state, clinic, and provider is different, so we strongly encourage you to speak with your doctors, clinics, or other agencies to learn the details of your available options.

    Glossary of Terms

    We’ve gathered definitions of some common terms you’ll run into here and in your interactions with doctors and other professionals:

    Aneuploidy
    Aneuploidy is an abnormal number of chromosomes in a cell. For example, 45 or 47 chromosomes instead of the typical complete set of 46 (euploidy).

    Autosomal recessive
    Both parents have to have a DNA change in the same gene for a child to be at risk.

    Biopsy
    An embryo biopsy removes one cell or a small, representative group of cells from a developing embryo. These cells are used for preimplantation genetic testing.

    Carrier screening and fertility care
    Various healthcare professionals may be involved in carrier screening and fertility care, and you may interact with a primary care physician, OB/GYN, or a fertility specialist (e.g., reproductive endocrinologist).

    Carrier testing/screening
    A type of genetic test that can identify whether you have an increased risk of having a child with a genetic disorder. The test screens for DNA changes that can increase a child’s health risks. Some are X-linked (e.g., Fragile X) and are passed down from the mother. Some are autosomal recessive, meaning both parents must carry a change in the same gene for a child to be affected.

    Embryologist
    A professional who handles and conducts various tests on reproductive tissue, such as sperm, eggs, and embryos.

    Full mutation Fragile X
    Above 200 CGG repeats on the FMR1 gene. Individuals with full mutation Fragile X have Fragile X syndrome (FXS).

    Fragile X premutation
    Between 54 and 200 CGG repeats on the FMR1 gene. Individuals with the Fragile X premutation are sometimes called Fragile X carriers. These individuals are at risk for Fragile X-associated conditions.

    In vitro fertilization (IVF)
    An assisted reproductive technology in which the ovaries are stimulated with hormones, eggs are retrieved from the ovaries, fertilized outside the body in a laboratory with sperm, and embryos are transferred back into the body with the intention of pregnancy.

    Monogenic
    Conditions are caused by mutations (DNA changes) in a single gene.

    Preimplantation genetic testing (PGT)
    A screening test that utilizes a few cells from each embryo to identify genetic abnormalities.

    Preimplantation genetic testing for aneuploidies (PGT-A)
    Screening embryos for chromosome abnormalities (e.g., the number of chromosomes in the embryo).

    Preimplantation genetic testing for monogenic/single gene defects (PGT-M)
    Screening embryos to identify whether they carry a specific genetic mutation.

    Ultrasound
    An imaging method that uses sound waves to produce images of the inside of the body. Ultrasounds are used to view things like the uterus and follicles during IVF, or fetuses during pregnancy.

    X-linked
    A child has a risk of the disease if their mother is a carrier.

    Tips for Family Planning

    There is a lot of information to sift through as you choose to grow your family. It can be an emotional process that comes with highs and lows. If we could give you overarching tips for success, these would be them:

    1. Understand Your Fragile X Status

    Individuals can choose to participate in carrier screening. Knowing your Fragile X status as well as your carrier status for other genetic conditions (such as sickle cell disease, cystic fibrosis) can help inform your healthcare and, potentially, your family planning goals.

    Learn more about testing and diagnosis

    2. Partner With a Fantastic Doctor or Clinic

    You will need to be your own advocate throughout this process, and you should partner with a clinic or doctor (or both) who knows Fragile X, listens to you, and makes you feel comfortable. Having a clinic that supports your goals makes a huge difference!

    Check our listing of NFXF Fragile X clinics

    3. Identify a Support Network

    Having a supportive network makes a huge difference. You may want to see a therapist, share your journey with trusted friends or family, or connect with others on similar paths. Knowing you are not alone and having people to lean on will come in handy!

    Find a contact through the NFXF community support network

    4. Discuss Your Options

    Discuss your options with your doctor. Understanding your options and knowing you have a choice is important. If you have questions, ask! There are no stupid or silly questions.

    See more about growing your family with Fragile X

    5. Understand Any Health Implications

    There may be health implications to being a carrier for a genetic condition and for undergoing various fertility treatments. Discuss these options with trusted healthcare professionals to understand your risks and assess them.

    6. Do What’s Right for Your Family

    It’s your life! What works for you may not work for someone else. No answer is perfect or one-size-fits-all. Making informed decisions that honor your personal beliefs is key.

    7. Seek Financial Support

    Adoption, IVF, and genetic testing can be expensive. Talk with your insurance provider and employer about coverage and potential benefits. More states now cover reproductive treatment through insurance.

    RESOLVE: The National Infertility Association is a great resource for learning about state-by-state coverage and advocating for better employer benefits. Some clinics offer IVF grant programs. Explore your options!

    Carrier Testing & Screening

    Carrier testing and screening are genetic tests that can tell you whether you carry a DNA change in genes that can cause certain genetic disorders and affect a child. Carrier screening can be done before or during pregnancy, though preconception counseling and testing are recommended to help families understand their options. Both the female and male partners are eligible for carrier screening.

    Carrier screening should always be offered, but it is never required. Carrier screening may or may not be covered by your insurance.

    Some of the diseases on the panels are X-linked, and some are autosomal recessive. X-linked means a child has a risk of the disease if their mother is a carrier. Autosomal recessive means a child is at risk only if both parents carry the same DNA change in the same gene.


    TIP If the male partner is undergoing carrier screening, ask the healthcare provider if Fragile X will be included in the carrier screening panel.


    If an individual is found to be a carrier for a specific condition that is autosomal recessive, subsequent testing of the individual’s reproductive partner can then be performed to receive additional information about possible reproductive outcomes and options for additional testing.

    Carrier testing and screening require a blood, saliva, or tissue sample. There are many options for carrier testing and screening, including targeted carrier screening or expanded carrier screening:

    • Targeted carrier screening focuses on conditions based on your family’s history or ethnicity. For example, if you have a family history of Fragile X, you may just want Fragile X carrier testing or, if you are African American, you may want to receive carrier screening for sickle cell disease, as it predominantly affects people of African descent.
    • Expanded carrier screening is a larger panel, meaning you will be tested for many genetic conditions and disorders at once. Your healthcare provider likely works with a specific carrier screening company, and each company creates its own expanded carrier screening list.

    Find more carrier screening FAQs from ACOG, the American College of Obstetricians and Gynecologists.

    Here is a short video overview of carrier testing and screening from MyJScreen.

    Reproductive Genetic Testing

    Source: MyJScreen, a non-profit, community-based public health initiative that prevents Jewish genetic diseases and promotes healthy families. JScreen reproductive genetic testing lets individuals and couples know if they are carriers of genetic diseases.

    Even if you know you have the Fragile X premutation (commonly called a Fragile X carrier) or full mutation, you may still want to consider expanded carrier testing to understand your risk for other genetic conditions.

    Your healthcare provider may receive your results first, review them with you, or suggest you speak with a genetic counselor. Not all genetic conditions and disorders are inherited or passed on like Fragile X; the genetics and inheritance patterns of Fragile X are complex.

    Review your results with a healthcare provider or genetic counseling professional. You may also be interested in:

    Contraception

    Note: We understand contraception is not for everyone. If you are not interested or do not believe in the use of contraception, feel free to skip this section.

    There are many options available for birth control if you are not ready or not planning to be pregnant. Sorting through all of the options available for birth control may be a bit overwhelming, but it is important to make an informed decision on what option might work best for you. Factors to consider when weighing your options include:

    • How effective is this method?
    • Does this method protect against sexually transmitted infections (STIs)?
    • How often do you need to remember to utilize this method?
    • Is it practical for your lifestyle?
    • Is this method reversible?
    • What are the potential side effects?
    • Do you have any medical diagnoses that could make a method higher risk?
    • Is this method affordable?

    All methods of contraception have their pros and cons. Prioritize what matters most for your family planning goals and lifestyle, and talk with your medical provider to decide which method will work best for you.

    Even if your initial method is not a perfect fit, do not be discouraged! There are many options from which to choose:

    Combined Hormonal Birth Control Methods

    Hormonal birth control works to prevent pregnancy by various methods, though most pause the body’s monthly ovulation process (the release of an egg from the ovary). Hormonal methods include a birth control pill (“the pill”), a patch that is applied to the skin, and a vaginal ring.

    Birth Control Pill

    When taken as directed, the birth control pill is very effective at preventing pregnancy. With this method, it is best to take the pill at the same time every day so that it is a part of your routine. If you miss a pill, read the package instructions to decide your next step. This method is 93% effective with typical use.

    Skin Patch

    The skin patch is a 1.75-inch adhesive patch that is applied to the skin (upper arm, shoulder, upper back, hip) once a week. You apply the patch weekly, and in the fourth week, you leave it off to allow for a period. The skin patch contains hormones similar to those in birth control pills. You can still wear the patch while exercising, bathing, or swimming. This method is 93% effective with typical use.

    Vaginal Ring

    The vaginal ring is a small, flexible ring that is inserted into the upper portion of the vagina. The ring stays in place for 21 days, then you remove it for seven days to allow your period. The ring contains hormones similar to both the birth control pill and the skin patch. It is okay to have intercourse with the ring in place. This method is 93% effective with typical use.

    Depo-Provera

    The only injectable version of birth control, also known as “the shot,” is Depo-Provera. This is a long-lasting progesterone hormone that is given as an injection every three months to prevent pregnancy.

    The shot is injected into the buttock muscle or upper arm, similar to most seasonal vaccines. It can take up to 6-12 months for menses to return after stopping this medication; it is not recommended for individuals who are thinking about pregnancy within the next year. It is 96% effective with typical use.

    Barrier Methods

    Barrier contraceptives prevent sperm from entering the uterus. These methods include the external condom, internal condom, diaphragm, and cervical cap. Correct use of these devices is important to ensure effectiveness.

    As opposed to other methods, barrier contraceptives can decrease the transmission of sexually transmitted infections. They can also be used in addition to the other methods discussed here to lower the chance of contraceptive failure. These methods can vary from 71% to 87% effective with typical use.

    Intrauterine Device

    The intrauterine device, known as an IUD, is a small T-shaped device that is inserted into the uterus by your healthcare provider. Insertion requires a procedure performed at the doctor’s office; however, this method can last for years (approved duration varies by type, but most are 5–7 years) and does not require the user to remember to take or place any medication.

    There are two main types of IUDs — those that contain a hormone (progesterone), and one that does not contain hormones (copper IUD). Their effects on menstrual cycles also vary by type. This method is 99.2% to 99.9% effective.

    Implant

    The Nexplanon device is a small implant, about the size of a matchstick, that your healthcare provider inserts into the upper arm. The implant is not apparent following placement. It is another progesterone-only method that can prevent pregnancy for up to five years. Its effect on menstrual cycles varies from person to person, though it can be associated with irregular bleeding. This method is 99.9% effective.

    Emergency Contraception

    Emergency contraception can stop a pregnancy before it starts — in a situation where no birth control was used, or if there is a concern that the selected method of birth control may have failed or not been used appropriately. Time is of the essence, as their effectiveness declines over time.

    Two oral medications are available for emergency contraception. One option is levonorgestrel-based pills (often called “Plan B”). These pills do not require a prescription and can be purchased over the counter. This medication can be taken up to five days after unprotected intercourse, though the effectiveness is best within the first three days. These medications are not as effective for women who weigh more than 165 pounds.

    Alternatively, the other oral medication available for emergency contraception is ulipristal acetate (Ella). This medication requires a prescription from your provider and has stable efficacy up to five days after unprotected intercourse. It also does not lose effectiveness in people weighing above 165 pounds. These oral emergency contraception methods have an efficacy rate of 85% to 99%.

    Lastly, the non-hormonal copper IUD (ParaGard) can be inserted into the uterus up to five days after unprotected intercourse — but this method does require a doctor’s appointment for placement of the device.

    Also see Bedsider, which provides information on birth control for people ages 18 to 29 years. (Run by the nonprofit Power to Decide.)

    You may also be interested in:

    Options for Growing Your Family with Fragile X

    Couples may find out that the female or the male partner has an expansion on the FMR1 gene, including the Fragile X premutation, commonly referred to as a “Fragile X carrier,” or the full mutation referred to as “Fragile X syndrome.” Naturally, many questions arise.

    Commonly asked questions include: What are my options for the future? How can I increase my chance of having a child without Fragile X? What are the options to test a pregnancy in the future?

    Growing your family isn’t always straightforward, and depending on your personal, cultural, and religious beliefs, some options may not be the right fit for you. Several ways to build a family exist when one partner has the Fragile X premutation or full mutation.

    Let’s walk through each of these options together:

    1. Conceiving Naturally and Not Doing Any Testing

    You and your partner may choose not to have any type of genetic screening and testing for yourselves or your future child or children. This is your choice, you do not have to do any testing.

    All carrier and genetic screening and testing are optional. If you change your mind, you can have any screening or testing later in life at a healthcare provider’s recommendation. If you choose not to test yourself and your child’s physician is concerned about a potential genetic disease in your child, they can order necessary testing after the child’s birth.

    2. Conceiving Naturally and Testing During the Pregnancy

    There are two different methods to evaluate the genetic status of the fetus during pregnancy:

    • Amniocentesis
    • Chorionic villus sampling (CVS)

    Your healthcare provider will discuss and review the procedures and possible risks, and answer any questions you and your partner may have.

    Both procedures obtain tissue or amniotic fluid from the pregnancy to obtain DNA. They then analyze the DNA to determine the pregnancy’s genetic status. They can test for chromosome number and specific genetic disorders. These tests are commonly offered to women with advanced maternal age or a positive carrier screening test. You can speak with your healthcare provider about these options if you know your Fragile X status and would like to know the Fragile X status of the fetus.

    Amniocentesis

    Amniocentesis, sometimes called “amnio,” uses a small sample (about two tablespoons) of the amniotic fluid surrounding the fetus. This fluid has fetal cells that can be grown and analyzed for various genetic conditions.

    The procedure is usually performed between 15 and 20 weeks of gestation, as determined by ultrasound or the first day of the last menstrual period. Using an ultrasound, the healthcare provider inserts a very thin needle through the abdomen to withdraw the fluid from the uterus. The lab then tests the fluid. For many women, the procedure feels like a blood draw, though some feel mild cramping in their uterus.

    After the procedure, the woman receives care instructions on rest, travel, and other activities. The risks of the procedure include miscarriage, bleeding, cramping, and amniotic fluid leakage. The risk for miscarriage is approximately 0.1% to 0.3% when done by a skilled healthcare provider using ultrasound during your second trimester.

    Your healthcare provider or a genetic counselor will help you understand your amniocentesis results. You may receive your results within a few weeks.

    Chorionic Villus Sampling (CVS)

    Chorionic villus sampling requires obtaining a small sample from the developing placenta.

    The placenta is usually genetically the same as the fetus, but exceptions can occur. Chorionic villi are small fingerlike projections on the edge of the placenta. The cells can be studied for chromosomal abnormalities such as Down syndrome and FXS if the woman is known to have the Fragile X premutation or full mutation.

    CVS is performed earlier in pregnancy than amniocentesis, usually between 10 and 13 weeks of gestation. It also uses ultrasound equipment.

    Two methods are used to withdraw the sample, depending on the placenta’s position.

    1. If the placenta is behind the fetus, the healthcare provider inserts a thin tube through the vagina and cervix.
    2. If the placenta is in front of the fetus, a small needle is inserted through the abdomen, similar to amniocentesis.

    Using gentle suction, the doctor removes a very small amount of chorionic villi for laboratory analysis. Some women feel cramping or pressure, while others do not find it uncomfortable. Like amniocentesis, there is a small risk of miscarriage (less than 1%). If performed earlier than 10 weeks’ gestation, there is an associated risk of limb defects.

    The American College of Medical Genetics and Genomics (ACMG) notes that methylation analysis of chorionic villus sampling (CVS) samples may have limitations when interpreting methylation results. Methylation of the FMR1 gene may not yet be fully established in chorionic villus tissue when CVS is performed. As a result, methylation results from CVS may differ from methylation patterns seen in other tissues later in development. In some situations, additional testing may be recommended to clarify a result.[1]

    3. Undergoing In Vitro Fertilization (IVF)

    IVF is an assisted reproductive technology in which the ovaries are stimulated with hormones to produce multiple eggs, the eggs are retrieved and fertilized with sperm outside the body in a laboratory. Once the eggs are fertilized, they may or may not become embryos.

    If they become embryos, you can choose to have them undergo genetic screening before any embryo transfers and pregnancy. You can transfer the embryo the following month, or keep it frozen for multiple years. After the embryo transfer, you will wait about two weeks before taking a pregnancy test.

    Individuals considering IVF are encouraged to check with their insurance provider about coverage before initiating any services. Some employers may also offer employee assistance programs that support fertility services and adoption. Many IVF clinics also have service and financial navigators you can speak with.

    Choosing an IVF Center

    You can explore fertility clinics nationwide and their success rates through the Society for Assisted Reproductive Technology’s Find an IVF Clinic tool.

    You might consider asking the clinic the following questions:

    • Have you heard of Fragile X?
    • How much experience do you have testing for Fragile X?
    • Do you have a genetic counselor on staff?
    • What lab does your clinic use for embryo genetic testing?
    • Do you have a financial counselor or consultant to help understand the costs?
    • How many “cycles” are typical for most patients?
    • What are your success rates and failure statistics? Do you have this information
    • specific to those individuals with Fragile X?
    • What testing should I have done to have a better idea of our potential success
    • chances?
    • Do you recommend any additional or alternative therapies, such as acupuncture, dietary changes, yoga, or supplements?
    • If applicable, how will my FXPOI impact this process?
    • What realistic expectations can you set based on what you know about my or our health history?

    Consultation

    Before any egg retrievals or embryo transfers, you must have a fertility evaluation. For females, they assess ovarian reserve (egg quantity); for males, they assess sperm count and quality.

    You will consult with a fertility specialist, likely a reproductive endocrinologist, on your goals. This is a great time to explain your Fragile X status and whether it has an impact on your family planning.

    For those electing to pursue preimplantation genetic testing for monogenic disorders (PGT-M) to test for conditions such as Fragile X syndrome, each partner’s DNA needs to be understood. To develop the custom test information (often referred to as a “probe”), they collect DNA samples (blood or saliva) from each partner to create a custom “fingerprint” associated with the genetic expansion. In some situations, additional DNA samples of family members may be requested. More on PGT-M below.

    Questions you may consider discussing during the consultation:

    • Who in our family will be requested to provide DNA samples?
    • What if the family member is unable to provide a DNA sample, will the accuracy be impacted?
    • How long will the test development process take once we receive the DNA samples?
    • Is there an additional cost or fee for the test development process?

    Many patients who biopsy their embryos for PGT-M for a specific disease also choose to screen the same sample for chromosome number, called “aneuploidy screening” or PGT-A (preimplantation genetic testing for aneuploidy).

    Ovarian Stimulation

    Once the consultation and evaluations are complete, you will begin hormone medications to stimulate your ovaries before the egg retrieval.

    The medications typically start on day 1 of your cycle (the first day of your period). The medications are all injectable (shots) hormones that patients give themselves at home. Routine monitoring will occur leading up to the retrieval and includes blood draws to test your hormone levels and transvaginal ultrasounds.

    Typically, you only ovulate one egg per cycle. Ovarian stimulation aims to grow as many eggs as possible safely, which may be uncomfortable. Tell your fertility specialist if you become uncomfortable or are in pain at any time in the process.

    Your fertility specialist will advise you on any medications you will need and how to take them to prepare for the egg retrieval. You will have frequent appointments for monitoring while you take medication.

    Once your fertility specialist determines your follicles — or the structures where an egg grows — are large enough, you will “trigger” them. This trigger is the last piece to help the eggs fully mature before retrieval. This trigger is usually a shot, and timing is very important. Be sure you know the exact time to take the shot before egg retrieval.

    After your trigger shot, you will be scheduled for your retrieval.


    TIP Sometimes ovaries don’t respond to stimulation, which means your egg retrieval would be canceled. If this happens, don’t give up hope! Ask your fertility specialist about the cause or causes, and possible next steps.


    Egg Retrieval

    Your retrieval is two days after your trigger shot. Egg retrievals are typically done under light sedation or anesthesia.

    Once you are comfortable, your fertility specialist will use a transvaginal ultrasound to guide a small needle through the vagina into your ovaries. Using the needle, your fertility specialist will take the fluid and egg from each of your follicles. The embryologist then examines the fluid, identifies the egg or eggs under a microscope, and fertilizes them in the lab.

    A sperm sample will be used for fertilization and is typically collected on the day of the egg retrieval. Frozen sperm samples can be used, though fresh are preferred.

    After the egg retrieval, you will be taken back to a recovery area. You may experience cramping or spotting after the procedure, along with drowsiness or fatigue, but you will likely feel back to normal within a day or two. Ask your fertility specialist about what to expect!

    Some individuals need to go through the ovarian stimulation and egg retrieval process more than once. A few factors that may influence this process include your family-building goals, your response to stimulation, and how the embryos grow in the lab. Discuss your possible outcomes with your doctor before beginning IVF.


    TIP Talk with your fertility specialist about any anesthesia concerns. You could also consider sharing this article: General Anesthetic Use in Fragile X Spectrum Disorders from the NIH.


    Fertilization

    An embryologist will combine mature eggs with sperm to achieve fertilization. Approximately 70% of eggs will fertilize. Embryos are monitored for the next three to five days. The embryologist then prepares an embryo for a fresh embryo transfer, freezes it, or prepares it for genetic screening (preimplantation genetic testing).

    Sometimes additional processes may support fertilization or implantation. Examples include intracytoplasmic sperm injection (ICSI), in which the embryologist injects a single sperm into each egg, or assisted hatching, in which the embryologist helps the embryo hatch from its shell, which may help it implant. These are not always necessary, recommended, or covered by insurance.

    Preimplantation Genetic Testing (PGT) Procedures

    A few cells from each embryo can be sent for preimplantation genetic testing for either monogenic disorders (PGT-M) or chromosome number (PGT-A).

    PGT-M is used to screen for a specific gene or genetic condition like Fragile X. PGT-M tests a single embryo for the condition for which you specifically want to be tested, it does not test for all possible genetic conditions. Carrier screening ahead of time can help you know the risk of other potential genetic diseases before IVF.

    PGT-A does not screen for specific genes or genetic conditions like Fragile X; instead, it assesses the embryo’s overall chromosomal makeup.

    • If an embryo has 46 chromosomes — 23 from the female and 23 from the male — it is considered an euploid embryo.
    • If an embryo has an extra or missing chromosome, it is considered aneuploid.

    The chance that each embryo is euploid depends on the woman’s age. Discuss with your healthcare team the most appropriate testing option for you. PGT-M and PGT-A both have associated challenges.

    If you choose PGT-M testing for Fragile X, they can select PGT-M with triplet repeat detection, which identifies both the full mutation (FXS) and the FMR1 gene premutation. These tests have limitations, and you must discuss their risks and benefits with your healthcare provider.

    One of the difficulties when attempting PGT for individuals with the Fragile X premutation is that some individuals have Fragile X-associated ovarian insufficiency (FXPOI), which can range from premature menopause to reduced ovarian function. This can make it difficult to stimulate the ovaries to make the eggs needed for PGT.


    TIP Women with a full mutation are not at risk for FXPOI and have no known associated infertility.


    PGT-M has an overall accuracy of>97%; therefore, diagnostic prenatal testing by CVS or amniocentesis is often offered later in pregnancy.

    If you elect to complete PGT-M on your embryos, testing will assist with identifying embryos that have inherited an FMR1 expansion resulting in the full mutation or premutation. After evaluation and testing, the fertility specialist or genetic counselor will discuss the results with you. The fertility specialist may offer recommendations based on the PGT results, but you and your partner ultimately decide what to do next.

    Embryo Transfers

    Embryo transfers are either “fresh” or “frozen.” If you choose to do PGT, your embryos will be cryopreserved or frozen until the testing results are in. This can take 2–3 weeks. If you choose not to do PGT, you may be eligible for a fresh transfer, meaning your fertility specialist will schedule an embryo transfer a few days after your egg retrieval.

    Both frozen and fresh transfers follow the same process. Most processes involve medications to prepare the uterine lining before the transfer.

    An embryo transfer does not require anesthesia and typically takes less than 10 minutes. Your fertility specialist will use a speculum and insert a catheter through your cervix into the uterus. The embryo will travel into your uterus through the catheter. You may experience mild cramping or spotting in the days following the transfer. You will typically be scheduled for a pregnancy test around two weeks later.

    What about the remaining embryos? It is important to discuss your options for the embryos you may not be able to use with your fertility specialist. Your decision may vary based on personal beliefs and financial considerations, and some options aren’t available in every state because of state law. Keeping an open line of communication with your partner and fertility specialist before and throughout the process can help you make the best decision for you. Working with a psychologist who specializes in fertility issues may also help. Your options may include:

    • Embryo donation: Couples may donate their fertilized embryos to other couples who can’t produce embryos on their own.
    • Donate embryos to scientific research: Couples may donate unused embryos to scientific research.
    • Thaw and dispose of embryos: Couples may choose to thaw and dispose of their unused embryos utilizing their clinic’s resources.
    • Do nothing, decide later: Embryos may be frozen and stored for a fee at some fertility labs. Other labs may require patients to relocate their embryos to a commercial storage site until they decide what option is right for them.

    Using Donor Eggs, Sperm, or Embryos

    Some couples choose to use materials from a donor without the Fragile X premutation or full mutation. Couples can use either donor eggs, sperm, or even a donor embryo. This option may be especially helpful for females with the Fragile X premutation who have FXPOI and may struggle to develop many eggs of their own.

    Using donor materials can also eliminate the risk of passing on Fragile X if that is of interest to you. However, if you want a child who is biologically related to both the mother and father, this option does not meet those needs.

    The process of utilizing donor eggs also utilizes IVF. The female recipient begins with medical tests for infectious diseases, RH type, thyroid function, general health screening, and so on.

    The egg donor undergoes screening, including hormone levels, genetic screening (usually including FMR1/Fragile X), family history assessment, psychological consultation, and more. The recipient couple meets with a donor coordinator to discuss their criteria for a good match and then selects an egg donor they feel meets those criteria.

    After donor screening and selection, the egg donor receives injectable hormones to stimulate her ovaries to produce multiple eggs. The eggs are retrieved at the optimal time (called “egg retrieval”), then fertilized in the laboratory with sperm from the recipient’s male partner or a donor.

    The embryos can either then be frozen for a future transfer to the intended parent’s uterus or their cycles can be coordinated for a fresh transfer. The intended parent usually stays on hormones for two months to support the early stages of the pregnancy.

    4. Choosing to Adopt

    Couples who wish to grow their family but do not want to use their genetic material, are unable to use their genetic material, or simply want to explore additional options may choose to adopt. The adoption process can be lengthy, and there is never a guarantee that couples will be able to adopt.

    Some couples choose to foster children, which can lead to adoption. Other couples may work with a public or private agency to identify children eligible for adoption.

    Speak with your local public agency or one or more private agencies to find the right fit. Public agency services may be free or very low cost and are potentially reimbursable.

    Private agencies go through the same processes as public agencies but typically charge for their services. Do your homework. Unfortunately, some groups and people take advantage of couples in this space by charging fees up front and then not following through with services. Ask for references or to be connected with other families who they have worked with.

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    5. Choosing Not to Have Children

    Some couples may choose not to have children. Growing your family is your choice, and if you decide it is not for you, that is your choice, no matter the reasons.

    Costs

    IVF — whether with your genetic material or a donor — and adoption can be expensive endeavors. The cost of IVF alone is usually $15,000 to $20,000 or more, with up to $10,000 in additional fees for PGT.

    These fees will depend on the number of cycles, number of embryos, other testing (such as chromosome analysis), fresh vs. frozen transfers, and medications. Health insurance will sometimes pay for a portion of it — coverage will vary from plan to plan and may depend on if the couple is diagnosed with infertility. Speak with your insurance provider about your coverage.

    Some employers offer employee assistance programs that offset the costs of growing a family through fertility services or adoption. Some fertility clinics offer financial counselors and IVF grants as well.

    Additional Resources

    Watch: Reproductive Considerations for Women with the Fragile X Premutation
    Dr. Heather Hipp, a reproductive endocrinologist at Emory University, discusses reproductive considerations and options for women with a Fragile X premutation, including FXPOI and the process for diagnosis.

    See all related webinars and posts.

    Related Treatment Recommendations
    Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)

    All women diagnosed with primary ovarian insufficiency should undergo testing for the Fragile X premutation, even if they have no family history. Since not all women with the premutation will develop FXPOI, itʼs crucial to identify risk factors that can help predict its onset.

    Women’s Health & the Fragile X Premutation
    29 pages,
    Updated 08/21/2016
    Information on inheritance, FXPOI, FXTAS, family planning, resources, a health worksheet, and more. From the Emory University School of Medicine, and made possible through funding from the NFXF and the Fragile X Association of Georgia.

    References

    1. Spector E, Behlmann A, Kronquist K, et al. Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 2021;23:799–812. Doi:10.1038/s41436-021-01115-y