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Infertility
Infertility could an incomparable medical condition of the reproductive system characterized by the inability to achieve pregnancy after more than 12 months orderly intercourse without use of contraception in women but 35 years of age; and after six months of normal intercourse without use of contraception in women 35 years and older. Some clinicians use the term subfertility to clarify this failure to conceive unless the couple has been proven to be sterile. It affects nearly 15% of all couples wishing to conceive and is generally attributed to males and females equally. A healthy young couple in their mid-twenties has only a 20–25% chance of achieving pregnancy in each cycle; a range of factors, each with different extents of genetic control, may influence their chances. Infertility can be hormonal, related to age, exercise, obesity or infectious disease; it can be immunological, psychological, result from surgery or blockage, or be associated with defined abnormalities in the gametes.
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Infertile females
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PCOS
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PCOS is a condition found in women who typically don’t ovulate, characterized by excessive production of androgens (male sex hormones) and the presence of cysts in the ovaries. Follicles go through the normal maturation process but fail to become eggs due to the hormonal imbalance. PCOS can range from mild to serious, and so can the symptoms. Some of the symptoms might include: excessive weight gain, acne, diabetes and excessive hair growth. Women with PCOS have a hormonal imbalance and metabolism problems that may affect their overall health and appearance. PCOS is also a common and treatable cause of infertility.
Panel Tests
- 17-OH progesterone
- Androstenedione (ASD)
- Comprehensive Metabolic Panel (CMP)
- DHEA-S (Dehydroepiandrosterone sulfate, DHEA-SO 4)
- Estradiol
- Fasting Glucose
- Fasting Insulin
- Follicle Stimulating Hormone (FSH-female)
- Glucose Tolerance
- Hemoglobin A1c
- High Sensitivity C Reactive Protein (hs-CRP)
- LH (Luteinizing Hormone, lutropin – female)
- Lipid Panel
- Prolactin
- Sex Hormone Binding Globulin (SHBG)
- Testosterone
- TSH (Thyroid Stimulating Hormone)
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Premature ovarian failure
Definition:
Premature Ovarian Failure is the loss of ovarian function by a woman under the age of 40. As a result a woman does not ovulate (release an egg) each month.
Some women will have other menopause-like symptoms that may include: hot flashes and night sweats, irritability, poor concentration, decreased interest in sex or pain during sex, drying of the vagina and infertility. Other complications, some of which can be tested for, include: low thyroid function, autoimmune disorder, genetic disorder, osteoporosis or heart disease.
Lab tests
- ACTH (Adrenocorticotropic Hormone)
- Aldosterone
- C-Peptide
- CA-125
- Cortisol
- Growth Hormone
- Insulin
- T3 (Triodothyronine)
- T4 (Thryroxine)
- TSH (Thyroid Stimulating Hormone
- Thyroid Peroxidase (TPO Ab
- Vitamin D 25OH
- Anti-Mullerian Hormone (AMH)
- Anti-Ovarian Antibodies (AOA)
- Clomiphene Citrate Challenge Test (CCCT)
- Estradiol
- Exogenous FSH Ovarian Reserve Test (EFORT)
- Follicle Stimulating Hormone (FSH-female)
- Inhibin B (Female)
- LH (Luteinizing Hormone, lutropin – female)
- Progesterone
- Prolactin
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Thrombophilia
Thrombophilia refers to inherited or acquired disorders that can result in an increased chance for abnormal blood clotting. During pregnancy this can cause microscopic clots to form in the placenta depriving the fetus of adequate blood flow. Several tests have been developed to assist in assessing the clotting capacity of a patient.
Candidates for Thrombophilia testing typically include: recurrent pregnancy loss, infertility, implantation failures, In vitro fertilization and embryo transfer (IVF-ET) failures, thromboembolic disease at a young age with no associated trauma, positive family history or whose thrombosis involves an unusual site. Compared to fertile women, a finding of a higher incidence of thrombophilia in women submitted to repeat cycles of in vitro fertilization (IVF) and implantation failure has become increasingly common.
Panel Tests
- Activated Partial Thromboplastin Time (APTT) –
- Antithrombin –
- Factor V Leiden –
- Factor VII –
- Factor VIII (Von Willebrand Factor) –
- Factor X –
- Factor XI –
- Factor XII –
- Factor XIII –
- Homocysteine –
- MTHFR –
- Plasminogen Activator Inhibitor – 1 (PAI-1) –
- Protein C
- Protein S –
- Prothrombin –
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Infertile males
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Sperm disorders
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40% of infertility problems are male related.
Male infertility is any condition that interferes with a male’s ability to initiate a pregnancy with the female partner. Essentially it is due to the fact that a man has too few healthy sperm in their semen that are capable of fertilizing an egg through sexual intercourse. There are a wide range of causes that can be tested for and are due to genetics, hormonal disorders, sperm function or sperm quantitative/qualitative features.
Panel Tests
- Acrosome Reaction
- Anti-sperm antibody (male)
- Chromosome Analysis Karyotyping
- Estradiol (male)
- Follicle Stimulating Hormone (FSH-male)
- Hyaluronan Binding Assay (HBA)
- Inhibin B (Male)
- LH (Luteinizing Hormone – male)
- Prolactin (male)
- Semen Analysis
- Sperm DNA Decondensation (SDD)
- Sperm DNA Fragmentation (SDFA)
- Sperm Penetration Assay (SPA, Hamster Test)
- Testosterone
- Y Chromosome Microdeletion
Genetics
Roughly 10% of fertility cases have a genetic etiology. Some patients have a combination of symptoms that does not allow for the hypothesis to be narrowed down to one particular underlying genetic cause. Performing numerous physical tests is costly and time-consuming. Most importantly, delayed diagnosis and treatment have a dramatic impact on a patient’s quality of life.
Genetic testing identifies chromosomal abnormalities and DNA mutations that correlate with various infertility related disorders. Typically genetic abnormalities are the cause of spontaneous abortions. In other cases an abnormal tests may indicate the possibility a baby will have a specific medical condition or disease when born.
lab Tests
- Bloom syndrome
- Canavan disease
- Cystic Fibrosis
- Familial dysauonomia
- Fanconi anemia group C
- Gaucher disease
- Niemann-Pick disease
- Tay-sachs disease
3 other less common diseases
- Maple Syrup Urine Disease (MSUD)
- Mucolipidosis (type IV)
- Glycogen Storage Disease (type 1a)
Other Tests
- Chromosome Analysis Karyotyping
- Cystic Fibrosis
- Fragile X Syndrome
- Preimplantation Genetic Diagnosis (PGD)
- Y Chromosome Microdeletion
Immunologic Disorders
A woman’s ability to successfully maintain a pregnancy is significantly influenced by a complex alteration of her immune system designed to prepare her body to host a developing embryo.
There are other immunological alterations that occur to protect the developing embryo, which is essentially a foreign organism developing within a woman’s body. In some cases these mechanisms do not work as intended and, depending upon the circumstances, might cause immune system disorders that result in recurrent miscarriages, infertility, or failure to conceive following IVF.
When should immunological testing it be considered ?
- 2 or more miscarriages after the age of 35 OR 3 miscarriages before the age of 35
- 2 IVF failures after the age of 35 OR 1 failed IVF before the age of 35
- Poor egg production from a stimulated cycle (6 eggs or less)
- Pre-existing immune problems (Lupus, Rheumatoid Arthritis, MS)
- 1 healthy pregnancy with all subsequent pregnancies ending in miscarriage
- Endometriosis, especially stage 1 & 2
- Cold and flu-like symptoms, sore throat noted regularly after ovulation, IUI, or IVF transfer
- Family history of immune disorders, either side of the family
Testing of the immune system is often undertaken for:
- Recurrent miscarriage
- Repeated failure of IVF
- Unexplained difficulties trying to achieve a pregnancy
- History of immune disorders
- History of thyroid disease.
- Previous pregnancies where there have been placenta related complications such as pre-eclampsia, premature delivery or fetal growth restriction
Laboratory Tests
Antiphospholipid antibodies (APA)
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)
- Antinuclear Antibodies (ANA)
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
- Antithyroid antibodies panel
Anti-microsomal antibody
Anti-thyroglobulin antibody
- Antipaternal Leukocyte Antibodies Panel
Non-complement fixing maternal antipaternal leukocyte antibodies (blocking antibodies or allo-antibodies) and antipaternal cytotoxicity antibody (APCA) (flow cytometric assay)
- Immunophenotype
Extensive white blood cell differential, including
T-cells (CD3), B-cells (CD19), T helper cells (CD4), T suppressor cells (CD8), activated T cells (DR), natural killer cells (CD56/CD16), and cytotoxic B cells (CD5/CD19). (flow cytometric assay), NK cells CD57+
- Natural Killer Cell Activation Assay
The percentage of NK cells displaying the activation marker CD69. (flow cytometric assay)
- Natural Killer Cell with IVIg Assay
(12 parameters)
A functional assay that assesses killing power of NK cells and ability of IVIg to inhibit this activity in-vitro (flow cytometric assay)
- Th1/ Th2 assay
The test stimulating the cytokines that indicate whether they are Th1 type cells or Th2 type cells.
- T regulatory cells
T regulatory cells are a crucial marker in reproductive immunology. The T regulatory assay to be particularly useful in patients who have suffered chromosomally normal losses and even have normal NK and TH1/TH2 results.
- Human Leukocyte Antigens
(HLA) ABC and (HLA) DR/DQ
Class I and II Major Hisotocompatability Antigens (tissue type). (PCR technology)
- DQα/DQβ Genotyping
HLA DQα/DQβ Alleles genotyping (PCR technology)
- Thrombophilia panel: (Total 8 genetic Loci)
Prothrombin
Antithrombin
Factor V Leiden. Factor V
Factor XIII
MTHFR
Plasminogen Activator Inhibitor – 1 (PAI-1).
Human platelet antigens (HPA1)
APO-E gene Protein C
Protein S Homocysteine
- Infectious disease
During the diagnostic work-up of both male and female infertility, various blood tests have to be conducted prior to assisted reproduction attempts in order to verify the presence or absence of various infectious diseases. Having one of these infections could be a contributing factor to a couple’s infertility issues thereby affecting the outcome of an assisted reproduction attempt. Another important reason for this testing is the fact that many of these infections can be passed along to the baby, potentially jeopardizing their health and the pregnancy.
Lab Tests
- Blood Grouping and Rh Typing
- Chlamydia
- Cytomegalovirus (CMV)
- Gonorrhea
- Hepatitis B
- HIV
- Human T-cell Lymphotropic Virus (HTLV)
- RPR (Rapid Plasma Reagin)
- Rubella (German measles)
- palladium (FTA) Antibody
- Varicella (chicken pox)
