Specimen Requirements Printable Version

{ Tests Explained Printable Version }

Tests Explained

Anti-Mullerian Hormone

Anti-Mullerian Hormone (AMH) is secreted by granulosa cells of the ovary, and controls the formation of primary follicles by inhibiting excessive follicle recruitment by FSH. It is suggested that it useful in assessing conditions such as polycystic ovary syndrome and premature ovarian failure. Contrary to FSH and Inhibin B levels that fluctuate along the cycle, AMH is stable and can be measured at any phase. The level of AMH can guide the physician about the ovarian reserve and thus the dose and protocol for IVF stimulation.

Follicle Stimulating Hormone (FSH) (D3 of menstrual cycle)

Follicle Stimulating Hormone is a hormone produced by the pituitary gland. It induces the development of early follicles into mature follicles/eggs. A normal FSH level on Day 3 indicates a woman has a good reserve of eggs (ovarian reserve) and is a good candidate for ovarian stimulation in IVF. As a woman grows older and the number of eggs she has remaining becomes lower, the pituitary secretes more FSH for egg production. High Day 3 FSH indicates a low or declining ovarian reserve. This hormone is in abundance in menopausal women’s urine. In the old days ovulation induction was done using menopausal women’s urine purified forms. Recombinant FSH forms are used for ART recently.

Anti-Phospholipid Antibodies (APA)

Phospholipids are a main component of the cell membrane. Antibodies against phospholipids in the blood attach to the cell membrane. Positive APA is an autoimmune disorder that results in an increased blood clotting tendency that can cut off blood flow to the fetus. These antibodies can also cause the placenta to have a weak attachment to the uterine lining and may cause recurrent miscarriages.

Cardiolipin is a phospholipid, a main component of cell membranes. It is essential for proper cell functions necessary for embryo development. Elevated levels of antibodies to cardiolipin are an autoimmune disorder that may interfere with the ability of cells to function normally, and have been associated with venous and/or arterial thrombosis (clotting), lower counts of blood platelets, and fetal loss.

We test for 2 different forms of antibodies (IgM, and IgG) against the most common APA: anti-phosphatidylserine, anti-cardiolipin, and anti-β₂ glucoprotein antibodies. Next in significance are anti- phosphatidylethanolamine, anti-phosphatidylinositol, anti-prothombin, and anti-annexin antibodies followed by other less common antibodies such as anti-phosphatidic acid and anti-phosphatidylglycerol antibodies.

Anti-phosphatidylserine Antibodies (IgG & IgM)

Anti-phosphatidic Acid Antibodies (IgG & IgM)

Anti-phosphatidylglycerol Antibodies (IgG & IgM)

Anti-phosphatidylinositol Antibodies (IgG, IgM)

Anti-phosphatidylethanolamine Antibodies (IgG, IgM)

Anti-phosphatidylcholine Antibodies (IgG, IgM)

Anti-prothombin Antibodies (IgG, IgM)

Anti-annexin Antibodies (IgG, IgM)

Anti- β₂ glucoprotein Antibodies (IgG, IgM)

Anti-cardiolipin Antibodies (IgG, IgM)

Anti-Nuclear Antibody Panel (ANA) (IgG & IgM)

Anti-Histone  antibodies

Anti-dsDNA antibodies

Anti-Jo-1 antibodies

Anti-La (SS-B) antibodies

Anti-Ro(SS-A) antibodies

Anti-Scl-70 antibodies

Anti-Sm antibodies

Anti-Sm/RNP antibodies

Some autoimmune disorders result from the body forming antibodies that attack the different components of the nuclei of normal cells. These antibodies can destroy cells leading to disorders like lupus and rheumatoid arthritis, and cause recurrent pregnancy loss or infertility. The ANA antibodies cause inflammation in the body or in the uterus during implantation. Many women with high levels of these antibodies are unable to become pregnant or carry a pregnancy to term as a result.

The anti-double stranded DNA (dsDNA) antibodies and the anti-histone antibodies measure the woman's immunological reaction to damaged DNA. When these are present in the blood, the woman's body may recognize her own embryos as foreign organisms and mistakenly trigger an immunological attack to eliminate the embryo.

Anti-thyroid peroxidase (TPO) Antibodies

Thyroid peroxidase is an enzyme present in the thyroid gland that is important to the production of thyroid hormones.

Autoantibodies to thyroid peroxidase are produced by the body itself as an autoimmune disorder. TPO antibodies can attack the thyroid and damage thyroid function. The anti- thyroid peroxidase antibodies test (TPO) detects autoantibodies directed against the thyroid peroxidase (TPO) enzyme. A positive test for these antibodies indicates an increased risk for miscarriage.

Anti-thyroglobulin (Tg) Antibodies

Thyroglobulin is a protein found in the thyroid gland. Anti-thyroglobulin antibodies sometimes found in the bloodstream may attack the protein thyroglobulin. These antibodies can ultimately lead to the destruction of the thyroid gland. Anti-thyroglobulin antibodies can be found in women with infertility and recurrent miscarriages. The toxins released due to destruction of thyroglobulin during embryo implantation and gestation may cause failure of implantation and miscarriage.

Extra Testing

Fragile X

Fragile X Syndrome – A genetic mutation found on the FMR1 gene on the X chromosome. A DNA test can be performed to determine if a woman carries the genetic mutation as either the complete mutation or the pre-mutation. Normally, the FMR1 gene contains between 6 and 55 repeats of the DNA nucleotide sequence CGG. In people with the fragile X syndrome, the FMR1 allele has over 230 repetitions. This mutation leads to the silencing of the fragile X-mental retardation protein (FMRP), which is believed to play important roles in learning and memory.

The pre-mutation (mild form) was found in about 20-30% of women suffering from premature ovarian failure. Each child of a woman carrying the pre-mutation has a 50% chance of receiving an X chromosome with the pre-mutation. There is also a chance a child will inherit a more severe version of the X chromosome resulting in the full mutation. The full mutation affects approximately 1 in 4,000 males and 1 in 8,000 females resulting in borderline to severe mental retardation.

Karyotyping (Chromosome Analysis)

Cells from the peripheral blood are cultured from both prospective parents for the purpose of checking the chromosome makeup. Abnormal karyotypes are a significant cause of recurrent miscarriage or infertility. Abnormalities may be extra or missing chromosomes, translocations, deletions and inversions. Karyotyping can identify the abnormalities and determine the anatomical, physical and physiological manifestations associated with them.