In Vitro Fertilization

With genetic testing, we can assist hopeful parents in understanding their genetic makeup via blood sample, which can identify any risk of passing certain genetic disorders on to their children. Preconception genetic testing is optional; you and your partner can discuss whether it’s right for you.

Our genes are DNA sequences arranged in a specific order that provide the building blocks of the various traits we inherit from our parents. One copy comes from the mother, and one copy comes from the father. When genes mutate, certain genetic disorders can occur. Often, you can be a carrier of a genetic disease, but have no symptoms yourself. Genetic conditions such as cystic fibrosis are passed down to a child when both parents are carriers of the disease.

We generally recommend preconception genetic testing in the following situations:

• Family history indicates the presence of a specific disorder
• You or your partner have a genetic disorder such as cystic fibrosis or hemophilia
• Your ethnicity puts you at risk for certain conditions such as Tay-Sachs disease

If your screening indicates the potential for passing on a specific disorder, we can discuss options for helping you conceive a healthy baby, including IVF with preimplantation genetic diagnosis.

The in vitro fertilization process includes five different steps.

• Suppression: We’ll perform hormone testing during the first few days of your menstrual cycle and perform an ultrasound. You’ll be prescribed a round of birth control pills to temporarily suppress your ovarian hormones and prevent ovulation. This helps synchronize your eggs so that more will mature at the same rate during ovarian stimulation.
• Ovarian stimulation: A successful IVF cycle relies on the ability to produce multiple eggs at once. Creating a plan to meet your unique needs, your fertility specialist will walk you through your next steps. You’ll begin daily injections of one or more medications to stimulate your egg production, causing your ovary to produce multiple eggs. For most women, this process takes about 10 days. You’ll be monitored closely during this time in our clinic and once the follicles are mature, you’ll be scheduled for an egg retrieval.
• Egg retrieval: On the day of your egg retrieval, your appointment will take place in our state-of-the-art IVF suite and you’ll be administered a sedative via an IV when it’s time to begin. Once you’re asleep, your eggs will be removed using transvaginal ultrasound aspiration. The egg retrieval process usually lasts no longer than 30 minutes.
• Fertilization: Once the eggs are retrieved, they are carefully examined in the laboratory by one of our skilled embryologists. In most cases, your male partner will provide a sperm specimen on the morning of your egg retrieval. The embryologist will evaluate the specimen and prepare it for the fertilization process. Fertilization is accomplished either by insemination, placing the sperm in the fluid surrounding the eggs or by a process called intracytoplasmic sperm injection, where the sperm is injected directly into the egg. Your care team will continue to observe the growth of the embryos and keep you updated on their progress.
• Embryo transfer: Depending on the growth and health of your embryos, transfers routinely occur on either day three or day five of your menstrual cycle. The embryo transfer is typically a painless procedure, similar to an intrauterine insemination (IUI) or pelvic exam.
• Blood pregnancy test: You’ll be scheduled for a blood pregnancy test two weeks after your egg retrieval to determine the status of the in vitro fertilization process.

During this procedure, a single sperm from a male’s semen sample or his testicles is injected directly into the egg using a microscopic needle. The fertilized egg grows in the IVF lab for a period of one to five days before the doctor transfers it to a woman’s uterus. If a man is experiencing any of the following issues, ICSI may be the answer:

• Situations when sperm is retrieved from the bladder because of retrograde ejaculation (when semen goes into the bladder instead of ejaculating from the penis)
• Sperm that has poor movement (motility)
• Sperm that is not good quality
• Too little or no sperm

ICSI may also be beneficial for couples who have had previously unsuccessful rounds of IVF, even if there are no problems with the male’s sperm and couples who intend to have their embryo undergo genetic testing.

When ICSI is used, it results in fertilization of 50 to 80% of eggs. However, there are some risks that can occur with the procedure, including:

• Possible damage to the eggs
• The possibility that the egg may not develop into an embryo even after ICSI

If the male being treated has little to no sperm in his semen (not due to a blockage), it is recommended that he undergo genetic testing before moving forward with ICSI.

When patients undergo IVF, they may end up with healthy embryos that were not transferred during the fresh cycle. If the embryos are good quality, they can be frozen at our fertility center for future use using a process called vitrification.

Because the patient does not require ovarian stimulation or egg retrieval, frozen embryo transfers can make future IVF cycles simpler, less invasive and possibly less expensive. Frozen embryo transfers give the uterine lining time to recover, which improves the offs of implantation.

On the day of the transfer, we will thaw the embryo(s) and perform the transfer. Just as a typical IVF cycle, frozen embryo transfers are outpatient procedures that require no sedation. You will return to our office for a blood test to confirm pregnancy approximately 10 to 14 days later.

Your fertility journey will begin with blood tests to check hormone levels, an initial sonogram and one month monitoring your menstrual cycle. Uterine abnormalities, certain medical conditions and hormone imbalances can hinder your chances for pregnancy. During your fertility workup, you’ll receive additional blood tests to measure levels of AMH, FSH, LH and others:

• Follicle-stimulating hormone (FSH): Both women and men produce FSH. Usually scheduled for day 2 or 3 of a cycle, testing FSH can provide information about any problems with ovarian reserve.
• Luteinizing hormone (LH): This hormone regulates the menstrual cycle and egg production. A spike in your LH level indicates the onset of ovulation. We’ll track your LH levels to ensure they are not elevated during the ovulatory phase of your cycle.
• Anti-mullerian hormone (AMH): Generated by granulosa cells in ovarian follicles, AMH levels help assess a woman’s remaining egg supply. Low AMH can indicate poor ovarian reserves, a very high AMH level can indicate polycystic ovary syndrome (PCOS), and an in-range level means that you may have a better response to ovarian stimulation medications for IVF.
• Estradiol: Estradiol is a type of estrogen. Women need estrogen for optimal fertility, but if levels are too high or too low, you may have difficulty getting pregnant.
• Male hormones: All women naturally produce some testosterone. If you have a high amount of testosterone in your system, it may be a symptom of polycystic ovarian syndrome (PCOS), which can contribute to fertility issues.

As you age, the quantity and quality of your eggs decrease. Ovarian reserve testing allows our fertility specialists to gauge your fertility potential. This is important if you are planning to conceive after age 35 or if you have a family history of premature menopause or irregular periods.

Typically, ovarian reserve testing involves a combination of the following tests:

• Day 3 follicle stimulating hormone (FSH) test and estradiol test: High levels of FSH and estrogen may indicate diminished ovarian reserve.
• Antimüllerian hormone (AMH): Released by very immature follicles, the level of AMH offers a glimpse into ovarian reserves and potential response to ovarian stimulation.
• Antral follicle count: Performed via transvaginal ultrasound in the early part of your cycle, this test is used to check the number of potential egg-producing follicles you have available in a given month. Usually, the more follicles visible on the sonogram, the better your odds are for conceiving.

Advances in fertility medicine allow us to do our best to ensure the birth of your healthy baby. With an embryo biopsy, the embryologist removes a few cells from the outer layer of the embryo, which will eventually become the placenta. The process follows these steps:

• On Day 5, 6 or 7 of development, the embryologist removes cells from each embryo and sends the biopsy off for genetic evaluation.
• The laboratory determines whether the embryo has 23 pairs of intact chromosomes.
• Geneticists will look for markers that indicate the presence of the specific heritable disease.
• Your doctor will schedule embryo transfer and utilize only unaffected embryo(s).

We provide preconception testing and, when needed, targeted genetic testing prior to in-vitro fertilization. Preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS) protects the next generation from specific inherited diseases. Passive carriers of genetic diseases have a one in four chance of passing the gene to their children. Examples of diseases included on a genetic screening panel include:

• Bloom syndrome
• Canavan disease
• Cystic fibrosis
• Familial dysautonomia
• Fanconi anemia Type C
• Gaucher
• Hemophilia
• Huntington’s disease
• Marfan’s disease
• Mucolipidosis Type I
• Muscular dystrophy
• Niemann-Pick disease
• Thalassemia
• Tay-Sachs
• Spinal muscular atrophy
• Sickle cell anemia

PGS searches maternal and paternal DNA for chromosomal abnormalities called aneuploidy. Couples with a history of recurrent miscarriage, failed IVF cycles, a family history of chromosomal issues or women over 40 trying to conceive may consider PGS prior to IVF. PGS takes place after fertilization but before the embryo is transferred to the uterus.

PGD uses information gleaned in the preconception testing or PGS to provide a roadmap for our embryologists as they search for aneuploidy and specific single gene defects in an embryo. For example, should preimplantation genetic screening reveal the presence of an inheritable disease such as cystic fibrosis, sickle cell anemia or Huntington’s, a target search will take place to identify embryos unaffected by the marker. Only the unaffected embryos are transferred during the embryo transfer.

When pairing PGD with in-vitro fertilization, your cycle of IVF will proceed as usual, with ovulation suppression, ovulation induction, an hCG trigger shot and egg retrieval. At this point, our experts will work together to perform preimplantation genetic diagnosis, which involves testing embryonic cells. Testing takes place in our fertility lab three days after fertilization occurs, allowing the embryo to develop into eight cells.

According to the American Society for Reproductive Medicine (ASRM), early pregnancy loss is often caused by genetic abnormalities in the embryo. Unfortunately, this risk increases as women age, from 10 – 15% in women who are younger than age 35 and to more than 50% in women who are older than age 40.

Normal development of an embryo usually occurs when there are 46 chromosomes present. Couples are at risk of early pregnancy loss when:

• Having too many or too few chromosomes results in a condition known as aneuploidy. For example, Down syndrome or trisomy 21 is identified through an extra chromosome 21.
• Structural chromosome disorders, such as translocation, occur when part of a chromosome breaks off and reattaches to another chromosome.

Because all women have eggs and all men have sperm that are chromosomally abnormal, PGS allows us to test an embryo for chromosomal abnormalities before transferring it to the uterus during an IVF cycle. As a result, PGS for embryo selection has several potential benefits, including:

• Answers to unexplained infertility or recurrent pregnancy loss and information on how to improve pregnancy outcomes
• Improved IVF results and fewer repeat IVF cycles, which can decrease delays in starting or adding to your family
• The ability to select and transfer embryos that are without abnormalities and most likely to produce a healthy birth

The opportunity to reduce the risk of multiple pregnancy (twins or triplets)