Fertility, Genetics and Hormones—A Glossary of TTC and Infertility Tests

If your route to parenthood includes Assisted Reproductive Technology (ART), there’s a good chance you’ll be undergoing some (or even a lot of) tests. Don’t panic! We’ve compiled a glossary of common fertility tests that do everything from genetic screening to pinpointing hormone levels.

Hormonal Tests

• Day 3 Hormone Assessment: The typical Day 3 Hormone Assessment (which is actually more flexible and can take place from day two to four) includes evaluating a combination of hormones that can give clues to ovarian reserve. These are: follicle stimulating hormone (FSH, the hormone released by the pituitary gland that can indicate how well the ovarian follicles are responding to stimulus); estradiol (the form of estrogen); and luteinizing hormone (LH, the hormone released by the pituitary gland in response to estrogen that triggers ovulation). Note: a high Day 3 FSH is one of the markers of ovarian reserve, A.K.A. egg quantity and a high estradiol level can mask high FSH (making is appear normal) which is why the tests are done together.

• Progesterone: Progesterone is secreted by the remnant of the ovulated follicle (called the corpus luteum) during the luteal phase and secreted by the placenta during pregnancy. This hormone increases after ovulation to prepare the endometrium for implantation and continue to support the pregnancy. Most commonly, it's measured in the luteal phase to confirm ovulation has occurred and some clinics use it to help them adjust progesterone treatment during an embryo transfer cycle.

• Anti-Mullerian Hormone (AMH): This hormone is used as an ovarian reserve marker. Low levels of AMH could indicate low reserve (egg quantity) while high levels correlate with a high reserve. High AMH can also be indicative of PCOS or many antral follicles, another market for ovarian reserve.

• Thyroid Stimulating Hormone (TSH): TSH regulates the function of the thyroid gland which influences metabolism, heart function, the nervous system, moods and fertility. High or low TSH levels can indicate hypo- or hyperthyroidism (respectively), and both can impact fertility and pregnancy. 

• Prolactin: This hormone is usually associated with milk production, but prolactin can also be elevated in individuals on certain medications, with persistent high stress levels or from a benign pituitary tumour (prolectinoma). High prolactin levels can impact ovulation and cause a luteal phase deficiency.
  
  
• Androgens: This group of male hormones (including testosterone, androstenedione and DHEAs) are responsible for libido and play a role in egg maturation and ovarian reserve. High androgens are associated with PCOS.

Genetic tests

For intended parents

• Karotyping: This test looks at the chromosomes of the intended parents to confirm they have the correct number and arrangement. It's rare to have an abnormal karotype, but if it is present it can explain your cause of infertility or recurrent pregnancy loss.

• Functional Evaluation of Reproductive Nutragenomics (FERN): FERN looks at specific genetic variants that can affect egg or sperm health and offers dietary and lifestyle recommendations to promote optimal fertility. It can be performed at any time in the trying-to-conceive and fertility journey and is done with a cheek swab using a kit available online.

For the embryo or pregnancy

• Preimplantation Genetic Testing: A PGT test is done on embryos to screen for genetic errors when going through IVF. There are different types of PGT tests:
  • PGT-A: Screens for aneuploidy, a condition where embryos are missing or have extra chromosomes.
  • PGT-M: Screens for specific genetic disorders like Huntington's or Cystic Fibrosis.
  • PGT-SR: Screens for structural rearrangements in the embryo's chromosomes, like translocations and inversions.
• Non-Invasive Prenatal Test: NIPT testing is done once there is an established pregnancy, usually after eight weeks gestation. Fetal DNA can be detected in the maternal blood stream and can be tested for any chromosomal abnormalities.

• Products of Conception Testing: If you've experiences a miscarriage, there is an option of testing the products of conception (POC) tissue to assess the chromosomal make-up of the pregnancy. This might be able to provide further information into the cause of miscarriage.

Nutrient and vitamin deficiency tests

• Vitamin D: Having adequate levels of Vitamin D is associated with improved fertility in both people with eggs and sperm and most people don’t get enough of the vitamin from sun exposure and diet along.
  
  
• Ferritin: Ferritin is the stored form of iron and both low and high iron levels can have an impact on fertility and pregnancy outcomes.
  
  
• Insulin Resistance: Insulin resistance creates oxidative stress and inflammation. There are several ways to assess your glucose metabolism including fasting blood tests and dynamic blood tests (typically with a two-hour glucose stress test).

Specialized endometrial tests (endometrial biopsy)

• Endometrial Receptivity Analysis (ERA): ERA assesses the window of implantation to determine how many days of progesterone should be used prior to an embryo transfer.

• Endometrial Microbiome Metagenomic Analysis (EMMA): This test looks at the endometrial microbiome to determine potential imbalances in healthy bacteria (lactobacilli). Some clinics recommend it for those with recurrent failed embryo transfers or pregnancy loss.

• Analysis of Infectious Chromic Endometriosis (ALICE): ALICE screens for dormant infections in the uterus, referred to as chromic endometritis.

Learn more about ERA, EMMA and ALICE.

Tests for males or people with sperm

• Semen Analysis: A semen analysis evaluates the semen and sperm to determine whether sperm quality is in good shape to achieve pregnancy. Factors looked at include sperm concentration, motility and morphology as well as semen volume, pH and viscosity. Some of the most important variables derived from the traditional semen analysis performed in a lab can be done with an At-Home Sperm Test, saving you time on your path to pregnancy.

Hormone analysis

• Follicle Stimulating Hormone (FSH): FSH stimulates the cells that produce sperm and promoted sperm function until the sperm have reaches maturity.

• Luteinizing Hormone (LH): This hormone is responsible for testosterone production.

• Testosterone: This hormone is responsible for sex drive and achieving and maintaining erections.

• Thyroid Stimulating Hormone (TSH): TSH regulates the function of the thyroid gland. In people with sperm, hyperthyroidism (an excess of thyroid hormones) can be associated with reduced semen volume and sperm density, morphology and sperm motility. Hypothyroidism (under-active thyroid hormones) can result in low sperm count, poor semen quality, reduced testicular function and erectile dysfunction.

Read more about  Male Infertility Signs and Symptoms and why Men Should Be Taking a Prenatal.

At-home tests

• Early Results Pregnancy Tests: Our lab-tested strips can detect pregnancy up to five days before your expected period and come with four in a box.

• Ovulation Tests: With over 99.9 percent accuracy, our ovulation tests predict when you're about to ovulate.

• At-Home Sperm Test: Our sperm test can flag low motile sperm concentration and quality so you can save time in your fertility journey.