Infertility Diagnosis and Testing

I understand that every individual or couple’s fertility journey is unique. Whether you’re planning for the future or ready to conceive now, your fertility work-up should be personalized to you. Understanding the basics of a fertility evaluation and your diagnosis can help you take control of your reproductive health.

Get In Touch

What is Infertility?

The traditional definition of infertility is the inability to conceive after 12 months of regular, unprotected intercourse when the female partner is under age 35, or for 6 months if 35 years of age or older (unless there is an already known medical condition causing infertility).

Recently, the American Society of Reproductive Medicine (ASRM) updated their definition to be more inclusive, which states that:

“Infertility is a disease, condition, or status characterized by any of the following:”

The inability to achieve a successful pregnancy based on a patient’s medical, sexual, and reproductive history, age, physical findings, diagnostic testing, or any combination of those factors.
The need for medical intervention, including, but not limited to, the use of donor gametes or donor embryos in order to achieve a successful pregnancy either as an individual or with a partner.
In patients having regular, unprotected intercourse and without any known etiology for either partner suggestive of impaired reproductive ability, evaluation should be initiated at 12 months when the female partner is under 35 years of age and at six months when the female partner is 35 years of age or older.

Common Causes of Infertility

Female Factors:

Ovulatory disorders (e.g., polycystic ovary syndrome, hypothyroidism)
Fallopian tube damage or blockage
Endometriosis
Uterine abnormalities (e.g., uterine septum, fibroids)
Diminished ovarian reserve or early menopause

Male Factors:

Low sperm count or poor sperm motility
Varicocele
Blockages or structural abnormalities of the male reproductive tract
Lifestyle factors (e.g., smoking, obesity, exposure to toxins)
Medications (e.g., testosterone, anabolic steroids)

Unexplained Infertility:

In 15-20% of cases, even after extensive testing, the cause of infertility remains unknown. However, effective treatment options are available for couples facing unexplained infertility.

Fertility Evaluation

When is fertility testing indicated?

It’s important to note that if you feel inclined to undergo fertility testing, you can do so without requiring a diagnosis of infertility.

It is, however, indicated in anyone who has failed to achieve a pregnancy after 12 months of unprotected intercourse if under age 35 or after 6 months for those 35 years or older. Women who are 40 or older should seek fertility evaluation and care more immediately.

Evaluation should not be delayed for this duration if there is a known condition such as: irregular periods, menstrual cycles shorter than 25 days, known or suspected uterine or fallopian tube disease, endometriosis, known male infertility, sexual dysfunction, a known genetic mutation that can be inherited, or requiring use of third party reproduction.

01

Fertility and Medical History

Any evaluation should always start off with a thorough fertility, gynecologic and medical history. This can help guide specific testing for a more comprehensive and personalized fertility evaluation.

Regardless, there are still key factors that are assessed in all new patients who plan to conceive include ovarian reserve, hormone levels, and reproductive anatomy.

02

Ovarian Reserve Testing

This is a quantitative test to assess the amount of eggs remaining in the ovaries:

Blood tests to measure hormone levels (e.g., AMH, FSH, Estradiol)
Ultrasound to count antral follicles (fluid filled sacs that each contain an egg)

The main purpose of ovarian reserve testing, is to help guide medication dosing for fertility treatments, particularly, during ovarian stimulation in an IVF or egg freeze cycle.

03

Reproductive Anatomy

04

Semen Analysis

A semen analysis is a diagnostic test used to evaluate a man’s sperm quality. It is a crucial part of a fertility evaluation for couples struggling to conceive since male factor infertility contributes to about 40-50% of infertility cases.

A semen analysis is collected after 2-5 days of abstinence by providing an ejaculate. Semen analysis assesses several important factors related to sperm health, including:

<strong>Sperm Count (Concentration):</strong> The number of sperm present in a given amount of semen. A normal sperm count is typically considered to be over 15 million sperm per milliliter of semen. Low sperm count, or oligospermia, can make it more difficult to achieve pregnancy.
Sperm Motility: Sperm motility refers to how well sperm move. Progressive motility (forward movement) is critical for sperm to swim through the female reproductive tract and reach the egg. A normal motility rate means that at least 40% of the sperm in the sample are moving, and normal progressive motility is >32%.
Sperm Morphology: Morphology evaluates the shape and structure of the sperm. Abnormalities in sperm shape, such as misshapen heads or defective tails, can affect the sperm’s ability to penetrate and fertilize an egg. Typically, 4% or more of sperm should have a normal shape according to the WHO criteria.
Semen Volume: The amount of semen in a sample is measured. A normal semen volume ranges between 1.5 to 5 milliliters. Low semen volume can reduce the number of sperm available to reach the egg.

05

Preconception Testing

Preconception testing is a set of health assessments and screenings performed before trying to conceive. While it is not related to infertility, it helps identify any underlying medical, genetic, or lifestyle factors that could affect the health of a pregnancy or of the baby. Some testing includes:

Infectious Disease Screening, including:
- HIV, Hepatitis B and C
- Rubella and Varicella (chickenpox) antibody titers
- Syphilis and other sexually transmitted infections (STIs)
Genetic Screening Genetic screening helps identify if you or your partner are carriers of inherited genetic disorders that could be passed on to your child. Some of the common conditions screened for include:
- Cystic fibrosis
- Sickle cell anemia
- Tay-Sachs disease
- Thalassemia
- Fragile X syndrome
Vaccination updates

Additional testing may be required depending on your history, physical findings and prior diagnosis such as recurrent pregnancy losses, PCOS or endometriosis.