Diagnosing Infertility and the Causes of Miscarriage

There are many causes of infertility, miscarriage, or recurrent miscarriages, and there a variety of tests that can be performed to check for potential problems. If you've had 2-3 miscarriages, your doctor ought to begin doing recurrent loss testing. For those over 35 and unable to concieve after several months, don't hesitate to seek medical help. Below are some of the tests that can be performed as well as frequent causes of miscarriage and infertility that I have gathered from my own research. Please keep in mind that this list not exhaustive and I am not a doctor, but I hope it is helpful.

Category I: Immunological & Hemotalogical Causes
(blood clotting issues/thrombophilias)

Recurrent miscarriages can sometimes be traced to immunological problems or blood clotting disorders that cause a variety of complications in pregnancy. If you've had several losses, your doctor can (and should) order a blood test panel to check for these types of problems. The tests often include the following:

1. LA- Lupus Anticoagulant (related to the test called dRVVT: Dilute Russell Viper Venom Time)

2. ACA- Anti Cardiolipin Antibodies: molecules that attack cardiolipin causing clotting

3. ANA- Anti-Nuclear Antibodies

4. APA-Antiphospholipid -proteins that cause blood clotting/mc

5. PT and PTTT: Partial Thromboplastin and APTT: Activated Partial Thromboplastin

6. Factor V Leiden-mutation inherited thrombosis

7. Protein C and S levels and activated Protein C activity

8. Prothrombin gene mutation and/antithrombin deficiency - thrombophilia problems

9. Leukocyte Antibody Detection- abnormal attacking of the fetal cells

10. Coagulopathy-defect in clotting causing too much bleeding

11. MTHFR- a mutation that can create problems absorbing Folic Acid (usually treatable w/extra Folic Acid and Vitamin B)- single mutations are not considered problematic but double mutations can be and may elevate Homocystein levels

12. PAI-1 gene mutation: antigen in plasma -causes clotting

----------------------

Category II: Ovaries/Egg or Ovarian Reserve Problems

Another potential cause of infertility is a lack of quanity of eggs (low ovarian reserve) or poor quality egg(s) (which can also cause miscarriages), is often due to advanced maternal age. This can happen randomly to young women occasionally too. And as much as I hate the term "advanced maternal age," the risk really is much higher as a woman ages. Problems with a woman's eggs leading to infertility, miscarriage, or other complications rise after age 35. Below are some tests that may uncover any potential problems.

1. Day 3 FSH testing -Follicle stimulating hormone: this tests ovarian reserve (how many eggs are eft and potential egg quality) on Day 3 of a woman's menstrual cycle

2. Estradiol Level testing- similar to FSH, also tests ovarian reserve

3. Day 3 Inhibin- a follow up to low FSH in order to test egg quality

4. Clomiphene Challenge- another follow up to FSH after age 38 (more routine) to check egg quality. Requires taking clomiphene for 5 days.

5. AMH Testing: tests follicles for number of eggs to see if a woman is releasing eggs

6. AOA testing -tests for anti ovarian antibodies that interferes with ovarian funtion

-----------------

Category III: Male Sperm Factors

Problems with a man's sperm can certainly lead to infertility or miscarriage, although this is often overlooked and men are often only tested after a woman has been tested thoroughly.

1. Low Sperm count/motility/morphology- not having enough sperm or quality sperm is a rather common problem and can be diagnosed with a basic Sperm Analysis (SA)

2. Sperm DNA fragmentation- caused by environmental or substance damage (smoking, drugs, etc.) and other unknown causes. Of note is the negative impact that some antidepressants (SSRI's) have been shown to have on men's sperm. This type of damage is very problematic, causing infertility and miscarriages, particularly chromosomal problems, and is not diagnosed with a regular sperm analyis...one must get a sperm chromatin test or another test specifically on the DNA of the sperm.

-----------------------

Category IV: Hormonal Causes

Low or abnormal levels of a number of hormones in women can cause miscarriages and infertility. Below are some of the more frequent hormonally related causes.

1. Hypothyroidism: This can cause problems with ovary function due to hormone stimulations. TSH or the Thyroid Stimulating Hormone test can diagnose this.

2. Low Progesterone: Progesterone is necessary to sustain the uterine lining during pregnancy. Progesterone levels can be checked during pregnancy and supplemented if low. The Day 21 progesterone test is given on Day 21 of a woman's menstrual cycle to ensure that ovulation has taken place (based on progesterone levels).

2. Luteinizing hormone (LH) - LH levels that are too low can prevent ovulation and level too high can indicate chromosomal problems. The LH Test is used to diagnose this.

------------------------

Category V: Infections/Viruses

Infections and viruses do not usually cause recurrent losses, but they can be a cause of miscarriage and so I've included them.

1. Toxomplasmosis -diagnosed by the Torch test

2. HIV-test to check for the presence of HIV

3. Hep B and C infections

4. CMV-endocervical infection

5. PARVO- virus (can cause fetal hydrops)

-------------------

Category VI: Anatomical Causes

If a woman's fallopian tubes are blocked or abnormal or if a woman's uternus is abnormally shaped or formed, this can cause infertility or miscarriages. Two ways to check a woman's uterus and/or fallopian tubes include:

1.HSG-Hysterosalpingogram (x-ray with dye) or Hysteroscopy (tiny camera): ensures that the fallopian tubes are open and the uterus is normal and no scarring or abnormalites are present

2. Uterine Ultrasound: checks for any uternine abnormalities via a thorough ultrasound

--------------

Category VII: Chromosomal Causes

Sometimes a random accident occurs within either the egg or sperm during the early stages of development causing one extra gene (trisomy) or one less gene (monosomy) to develop in the embryo. Many are lethal to the developing embryo. These are not usually genetic in origin but are due to a random accident or to poor egg or sperm quality. Sometimes one or more parents may have an undiagnosed genetic translocation that causes more frequent chromosomal problems to develop and can be a cause for a small percentage of recurrent miscarriage.

1. Karyotype for genetic translocation: A test for the parents to see if there is a translocation causing recurrent chromosomal problems.

2. Other tests can performed during pregnancy, either in utero on placenta or umbilical (CVS), or amniotic fluid (amniocentesis) or after a miscarriage by collecting and testing the fetal tissue.

--------------

My hope is that this list will not cause fear, because while many things can go wrong, most pregnancies will be succesful. However, if you're suffering from infertility or recurrent miscarriages, it's important to know that many tests are available to you so that you can be empowered to take the necessary steps to achieve a succesful pregnancy.

What to Do When Your Friend or Family Member Miscarries

I have heard from many women who end up being deeply wounded by the reactions of thier friends and family following a miscarriage. I know I was deeply pained by the responses or lack of responses from those I loved and who I thought cared about me. Most people just don't know what to do or say and end up doing something less than helpful. Silence can be the worst, further alienating the one who is suffering. Common experiences women report include avoidance by friends and family, a reluctance by others to talk about the loss, a down playing of the loss by others, or saying things that diminish the loss. For most women and men suffering from a miscarriage, the grief can be very deep and just as painful as losing a most beloved family member. For the mother, she is immediately connected to her baby both physically in a very literal way and emotionally, regardless of what stage she is at gestationally. For both parents, this little one was their baby and next child. It doesn't matter if they were just 4 weeks pregnant or much farther along. A loss is a loss. The loss can be even more traumatic later on, but the grief experienced with an early loss can be extremely acute and heart wrenching. Most mothers and many fathers will experience all the stages of grief after a miscarriage and this usually lasts for several months. Be assured that they will never forget the little one they lost and loved but never had the chance to hold.

Here are some very tangible things YOU can do to be a support to a women who has suffered a miscarriage:

1. DO call, visit, email or whatever is normal for your relationship to simply check in with her, especially during the first few weeks, but even for several months. She may or may not want to talk about the miscarriage, but just by calling to say, "I care about you and am here for you if you need anything" will help her tremendously to feel supported during a very painful time.

2. DO send sympathy cards or flowers, just as you would for the loss of any loved one. The baby was absolutely a loved one for the mother and father and acknowledging that fact in a tangible ways is a huge affirmation and comfort. Pretending the little one didn't exist is the worst thing you can do...that does not ease the pain but increases it. This was their unborn child and they had dreams and hopes for him or her, they were already in love with the little life they had created that died too soon. Give them your condolences.

3. DO talk about the topic if and when the parents bring it up. Don't change the topic or avoid it. It won't cause them more pain to talk about it, on the contrary, the pain is already there and not having a safe place to talk about it is much worse.

4. DO listen, say little, and don't give advice. Listening, nodding, and saying nothing more than, "I'm so sorry, I wish there was something I could do" or "This is so hard" is PLENTY! When we try to "fix" the problem with many words or advice, we usually say something stupid...it's a problem that cannot be fixed but simply needs to be expressed and grieved until emotional healing can be reached.

5. If you and the parents are open to prayer, then DO tell them they are in your prayers and then actually follow up with prayers on their behalf. They're going to need it and knowing that they're in people's prayers is a very comforting thing.

6. DO NOT tell them to look on the "bright side" or diminish their loss in any way. (By the way, this piece advice applies to all kinds of loss and grief. When you're grieving, this is NOT the time to look on the "bright side.") Healthy grief requires taking account the full measure of the loss and the all pain involved and then affirming that it was indeed, a very sad and significant loss. Do not tell people they are "lucky for x reason" or that "it was God's will" or that "it's a good thing for x reason." This only adds to their pain and sense of loss and alienates them further. People in grief need primarily to be acknowledged that thier grief is real and significant. Eventually, in time, they will heal, but that is not now, it is when they're ready. They will eventually see a bright side on the other side of grief, but you CAN'T short circuit the pain of grief to get them there, so don't try.

The gift of your presence and love is the most valuable thing...just being there is the most important thing you can offer. It can make a world of difference for someone in deep pain.