Diagnosis - Female


The First Step

The first step in overcoming infertility is a correct diagnosis of the cause of your infertility. Many couples will have more than one cause, so a thorough evaluation is essential.

  • Are you ovulating normally?
  • Are your fallopian tubes functioning?
  • Are your partner's sperm normal and functional?

These are just a few of the questions that must be answered before RMA can recommend which treatment option is best suited for your specific problem. Current statistics show there is a female problem in about 40% of the cases, a male problem in 40% of the cases and a combined problem in approximately 20% of cases.

In order to obtain a precise diagnosis, an in-depth study of each partner's medical history and medical records is initiated at a consultation with one of our reproductive endocrinologists. You will also have the opportunity to meet with a nurse and financial counselor during your initial consultation. This allows you to meet directly with the staff that will be assisting you in your fertility journey. A detailed physical exam may also be conducted for the female and additional diagnostic testing ordered based on your initial evaluation. Our personal approach to your work-up means that particular care will be taken, so only the appropriate tests are conducted, saving both time and expense.

Using the results from the diagnostic tests your physician will make appropriate recommendations for the next steps. In cases where male infertility is suspected, additional testing and a urological exam may be recommended. Other specialized testing or procedures may also be ordered at this time. In most cases, the evaluation can be completed within one menstrual cycle.


Female Screening Tests

For most couples, several tests may be needed prior to initiating treatment. These are designed to look for problems that could have an adverse impact on your treatment or subsequent pregnancy. The testing is based on guidelines from the American College of Obstetrics and Gynecology and the American Society for Reproductive Medicine. If you have had any of the Female Screening Tests listed below within the last 6-12 months, please make the results available to us. Depending upon the test, you may not need to have the test repeated immediately prior to treatment. Depending upon the type of therapy planned, some tests may not need to be done.


Examples of Female Screening Tests

1. Mammogram

A mammogram is a screening test for breast cancer. The baseline mammogram for most women should be done at age 35, with a follow-up mammogram at 40. Current recommendations suggest screening every 1-2 years after that until age 50, then yearly mammograms after that.

2. Pap smear

A pap smear screens for cervical cancer and human papilloma virus infections. Currently, screening for most women is to be done on a yearly basis.

3. Blood Tests

FSH / LH / Estradiol -This combination of FSH (follicle stimulating hormone), LH (luteinizing hormone) and estradiol drawn on day 2, 3 or 4 of the cycle is a reflection of the female partner's ovarian reserve, or how well we expect her ovaries to respond to stimulation. This is done because women may have "normal" cycles, but not be able to become pregnant for about 6 years before menopause (average age 50-51). We will generally test all women regardless of age because of the wide range of variation in the onset of menopause and of ovarian function in infertility patients. These tests will help us determine which procedures and protocols are most appropriate.

Infectious Screen (chlamydia, hepatitis, syphilis, HIV, Mycoplasma, gonorrhea) - Having one of these organisms could adversely affect the outcome of your treatment or your pregnancy should you become pregnant. All of these infections (except gonorrhea) have one thing in common: you may be infected, but not have symptoms for long periods of time. Thus, it is imperative that these be completed prior to initiation of therapy.

Pre-Pregnancy Screen (blood type and Rh Factor, Rubella titer, complete blood count) - Determining blood type can be helpful if there are problems with a pregnancy. Rubella is an infection that can cause serious birth defects if it occurs while you are pregnant. Most of us have been immunized against it. However, some people have not been immunized or their immunization is no longer working. This test determines if immunization is needed. A complete blood count screens for anemia and other blood disorders, as well as tip us off about certain inherited disorders.

Prolactin, TSH - These hormonal tests screen for subtle abnormalities that could effect your treatment or your pregnancy. Both hormones are made by the pituitary gland in the brain. Prolactin is a hormone that helps to stimulate milk production during breast-feeding. Some women will secrete too much prolactin when not breast-feeding. TSH (thyroid-stimulating hormone) is the most sensitive test of thyroid function. It can detect either over activity or under activity of the thyroid gland.

Other - If you're medical history, family history or testing suggests that you may be at risk for genetic or autoimmune diseases, or other medical problems, appropriate tests will be ordered prior to initiating the cycle.

4. Uterine Testing

Hysterosalpingogram (HSG) or Sonohysterography (saline sono) An HSG or a saline sono will be done to evaluate the inside of the uterine cavity. The HSG can also provide information regarding the fallopian tubes.

* Our physicians perform HSG testing onsite at our facility, which makes it much more convenient and timely for our patients.

Baseline ultrasound - A baseline ultrasound allows us to look at the muscle of the uterus and assess the ovaries and can be done on your initial visit or pre-IVF visit.

Trial Transfer - A special catheter is inserted into your uterus to determine the direction and length of the uterine cavity. This measurement may also be done by ultrasound. This is done so that when an insemination is done or the actual embryo transfer is done at IVF, it will occur in the smoothest possible fashion.

5. Physical Examination 

Our physicians perform a complete physical examination on each patient.

6. Pelvic Ultrasound

A pelvic ultrasound takes a picture of the organs and structures in the lower belly (pelvis). It looks at the bladder, ovaries, uterus, cervix and fallopian tubes.

7. Ovarian Reserve Testing

It has been recognized for quite some time that a woman's chances of conception decrease with age.

With aging there is an accumulation of damage within cells. Over time as cellular damage accumulates, organs and tissues work less effectively and eventually may cease to function altogether. Compared with other organ systems, the female reproductive system fails at a relatively early age (the average age of menopause is 51 years). However, changes that limit a woman's chances to reproduce start many years before that. This appears to be due to a decrease in number of oocytes, as well as an increased proportion of oocytes that have abnormal chromosomes. Treatment options for infertility become more limited as ovarian function wanes, as there is no treatment that can restore eggs or improve their quality.

Ovarian reserve – The ovarian reserve is the term that we use to describe the reproductive potential of a woman's ovaries during the aging process. While age itself is an important determinant of ovarian reserve, not all women of the same age have the same reproductive potential. The medical evaluation of ovarian reserve is accomplished by tests that measure important components of the reproductive system.

Clomiphene Citrate Challenge Test (CCCT) is a method to assess ovarian reserve by directly challenging the portions of the reproductive system directly involved in follicle development: the hypothalamus and pituitary gland in the brain and the ovaries. In the CCCT, blood work is drawn on cycle day 3 (FSH, LH, estradiol) to assess the basal state of these hormones. You will then take the clomiphene citrate for 5 days starting on cycle day 5. On cycle day 10 (the day after completing the clomiphene citrate), you will have the blood work re-drawn. We will usually have the results the same day. If the test is abnormal, the woman's ability to conceive using her own ovaries and deliver a child is extremely limited. We suggest that you have a consultation with your doctor if the test results are abnormal for an in-depth discussion of your options.

Clomiphene Citrate (Clomid, Serophene) - Clomiphene citrate is an ovulation induction agent that has many uses including: (a) cause you to release an egg (ovulate) each month, (b) cause you to release more than one egg each month if you ovulate on your own, (c) help synchronize the lining of your uterus (endometrium). Clomiphene is a very safe drug, but like any form of treatment, it does have risks and occasionally there may be side effects.

Clomiphene Citrate Mechanism of Action - Clomiphene is an estrogen antagonist, that is, it opposes the actions of estrogen. It works by competing with estrogen for the estrogen-receptors in your brain (at the hypothalamus and pituitary gland). Your hypothalamus and pituitary gland interpret this as the body not having enough estrogen. This results in the pituitary gland releasing the hormones FSH (follicle-stimulating hormone) and LH (luteinizing hormone), which then go to the ovary to stimulate follicle growth and estrogen secretion. The estrogen and another hormone called inhibin, feedback to the brain to regulate the FSH-secretion. Usually the follicles selected by the clomiphene continue to grow and ovulate a normal manner.

Side effects - Although most patients have no symptoms while on clomiphene, you may notice mood swings, abdominal discomfort, hot flashes or visual disturbances. These symptoms are usually brief and mild when present and do not require treatment. If you experience any unusual problems while taking clomiphene, please feel free to call us at (248) 619-3100.

Risks -The major risk of clomiphene citrate is the risk of conceiving more than one baby. The risk of having a multiple pregnancy is about 8-10%. Of the few multiple pregnancies, about 90% will be twins and 10% more than twins. However, for patients undergoing a CCCT, this risk is likely to be much lower. On occasion, the anti-estrogen effects of clomiphene can make the lining of the uterus too thin. This can be treated by medication or by simply stopping the clomiphene and moving on to other medications (e.g. the gonadotropins). Rare complications include twisting of an enlarged ovary ("torsion") and ovarian hyperstimulation syndrome. There is no increased risk of birth defects, miscarriage, or tubal (Ectopic) pregnancy compared to the general population. There are no other reported complications with pregnancy due to the medication, although, of course, no pregnancy can ever be guaranteed to be "perfect".

Precautions - You should not take clomiphene if you have significant ovarian cysts, think you are pregnant, have liver disease or significant visual symptoms on the medicine.

8. Genetic Testing

Through RMA Genetics, numerous pre implantation genetic diagnoses are now possible. Women suffering multiple miscarriages, failed IVF cycles or couples who are at risk of passing inherited genetic diseases to their children can benefit from the new advances in genetic testing.

Through Pre implantation Genetics Diagnosis (PGD), RMA Genetics helps patients to achieve their goal of having a healthy baby.

While some IVF patients can benefit from PGD, it is of critical importance to the following two patient groups:

  • Couples with infertility related to recurrent pregnancy loss or failed IVF cycles.
  • Couples who are at risk for passing on inherited genetic disease to their offspring.

PGD is performed as a part of an In Vitro Fertilization cycle where multiple eggs are produced, retrieved from the ovaries and fertilized with the partner's sperm in the Embryology Laboratory. IVF gives us access to embryo(s) in vitro. PGD is then performed by removing one or two cells from each embryo through a procedure called embryo biopsy. These cells are analyzed in the RMA Genetics Laboratory for the presence of genetic disorders and chromosomal abnormalities. This sophisticated and technologically advanced testing attempts to identify embryos which are free of abnormalities and more able to achieve the patient's goal of a healthy baby.

PGD Technology Identifies Genetic Abnormalities in Embryos

Chromosomal abnormalities in early embryonic cells are analyzed in The RMA Genetics Laboratory by fluorescence in situ hybridization (FISH) to determine proper structure and the appropriate number of the chromosomes tested. Inherited Single Gene Disorders are analyzed in collaboration with a contracted laboratory.

1. PGD & Infertility

  • Recurrent Pregnancy Loss 
  • Advanced Maternal Age
  • Male Infertility
  • Repeated IVF Failure

2. Structural Abnormalities

  • Translocations
  • Inversions
  • Deletions

3. Inherited Single-Gene Disorders

Our State of the Art Laboratory offers several testing panels analyzing up to nine chromosomes (13, 15, 16, 17, 18, 21, 22, XY). These panels can be tailored to your center's embryo transfer protocol timetables. New tests are developing daily; please discuss the availability of testing panels with our Laboratory Director.

RMA Genetics is pleased to work with our colleagues throughout the United States to offer:

  • Genetic counseling 
  • Training on blastomere biopsy and fixation at no charge 
  • Facilitate full biopsy and/or fixation by highly trained per diem embryologists
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