Multiple Miscarriages, Fertility & Genetic Testing

Multiple Miscarriages, Fertility & Genetic Testing

conceptioMultiple Miscarriages, Fertility & Genetic TestingnFirst, we’re sorry for your loss! We suspect that because you are referring to this guide, that recurrent miscarriage is a concern. You, more than anyone, know how hard miscarriage is. Addressing the emotional and physical pain, on top of trying to figure out what’s wrong can be overwhelming for anyone – let alone wondering about genetics, how they play a role, and if there is anything that can be done to change them.

Genetic issues (especially chromosomal issues) are believed to cause up to 60% of miscarriages. The majority of these problems occur when the sperm meets the egg. Underlying genetic factors in the parents don’t usually cause them.

About 4% of couples with a history of recurrent miscarriage have chromosomal abnormalities that may recur in a future pregnancy. The good news is statistics show that many of these couples go on to have healthy pregnancies.

Still, anyone who’s experienced recurrent miscarriage understandably needs answers and support. Along with immunological infertility testing, genetic testing offers another avenue to explore what’s happening within your body and take back some control over your fertility.

Genetic Tests Available for Couples Who Have Experienced Multiple Miscarriages

1. Genetic Karyotype – This testing screens for chromosomal abnormalities that increase miscarriage risk and the birth of a baby with a genetic problem.

Who should consider it? Couples with a history of multiple miscarriages (3 or more) who are planning for natural conception or IVF are good candidates for genetic karyotype testing. If you have had fewer than three miscarriages, but feel you are at high risk due to family history or other factors, it may also be a good idea to push for testing.

2. PGS (preimplantation genetic screening): If you’re planning for IVF and have a history of miscarriage, PGS can screen for healthy embryos, which are more likely to implant and develop normally.

Who should consider it? If you have risk factors such as family history of genetic disease like cystic fibrosis, clotting disorders, age-related fertility health issues (declining egg or sperm health), or unexplained infertility, PGS can be a good choice to help you conceive and have a healthy pregnancy.

3. Fetal Tissue Testing: For women experiencing a miscarriage and planning for a D&C, genetic karyotyping on the tissue that’s collected can help rule out genetic issues in the embryo.

Who should consider it? This can be a good choice if you have no other known miscarriage risk factors like hormone imbalance, hypothyroidism, immunological issues or cervical weakness, and are looking for answers.

Common Genetic Problems Found Through Testing

1. Aneuploidy: Aneuploidy is a carrier of an abnormal number of chromosomes. It’s the top chromosomal abnormality in men and women. It includes chromosomal translocations, inversions, and deletions. Aneuploidy is a contributor to miscarriages, low embryo implantation rate, and the birth of babies with genetic issues.

Aneuploidies can be inherited or develop through the aging process. Whether or not you will be able to carry a pregnancy to term or have a healthy baby really depends on the type of aneuploidy you have, and what can be done about it. Working with a genetic counselor and fertility specialist offers the most support.

2. Balanced Translocation: In 4.5% of couples with multiple miscarriages, one or both parents have an inherited balanced translocation gene. In balanced translocation, part of a chromosome has broken off and reattached to a different area. While many people with them have no idea they are carriers, balanced translocations can cause serious health issues.

Balanced translocation can cause an embryo to have missing or extra genetic material, which can ultimately lead to miscarriage. Yet, even if you test positive for balanced translocation, there is a good chance you may ultimately have a healthy pregnancy. If you have balanced translocation and are planning for IVF, PGS (preimplantation genetic screening) can screen for healthy embryos that are more likely to implant.

3. MTHFR (Methylenetetrahydrofolate Reductase gene mutation): 30-50% of people have MTHFR gene defect. For most, it’s harmless. For others, MTHFR increases risk for recurrent miscarriages, health issues, high homocysteine levels, and pregnancy complications. The MTHFR gene is necessary for methylation, which converts folate and folic acid into a form the body can use.

The MTHFR C667T gene variant is especially problematic and can decrease your body’s ability to produce methylfolate by 40-60%. If you have MTHFR C667T:

  • work with fertility specialist that is experienced with it
  • focus on a diet that is rich in naturally occurring folate, which is safe for people with MTHFR. Good food sources of folate include: uncooked dark leafy green vegetables, artichokes, lentils, beans, liver, and avocado

It’s also important to only use methylated (active) forms of B complex vitamins, which are:

  • vitamin B6, commonly listed as Pyridoxal 5-Phosphate
  • vitamin B12, commonly listed as methylcobalamin

Avoid any supplements or foods fortified with folic acid. Many women with MTHFR are able to go on to have healthy pregnancies just by making a few changes and working with an educated practitioner.

4. Genetic Clotting Disorder/ Thrombophilia/ Factor V Leiden: About 1 in 5 people in the US is a carrier of some form of thrombophilia. Thrombophilia is a general term used to describe blood-clotting conditions that cause the body to form blood clots, often in excess. Since pregnant women are already more likely to develop blood clots, having a blood-clotting disorder can be especially challenging during a pregnancy. Two common blood-clotting disorders we are asked about related to fertility are:

  • Antiphospholipid syndrome (APS) – a common type of acquired, autoimmune (not genetic) thrombophilia, which leads to pregnancy complications.
  • Factor V Leiden – a genetic blood-clotting disorder that increases the risk for recurrent miscarriage and pregnancy complications.

Many women with thrombophilias have healthy pregnancies, but it’s important to know what your status is. Unmanaged thrombophilia can increase your risk of recurrent miscarriage, stillbirth, placental abruption, IUGR (intrauterine growth restriction), and preeclampsia.

If you have a genetic or acquired clotting disorder, ask your fertility specialist about using anti-clotting medication (like low-dose aspirin and heparin) during pregnancy (in some cases, this may reduce miscarriage risk up to 54%), or talk to your doctor about using Systemic Enzyme Therapy.

Genetic Issues: What You Can Do About Them

Most couples in this situation continue trying to conceive a healthy pregnancy or they explore a different path to parenthood. In some cases, there may be nothing that can address a genetic fertility issue. Having said that, medical and natural therapy options do exist for certain genetic disorders.

Using natural programs to Increase Egg Health in 90 Days and Increase Low Sperm Count and Improve Male Fertility can impact age and lifestyle related chromosomal issues and unexplained infertility for many couples.

If you’re going through this, work with fertility specialists for the best results. If you need genetic testing, find a clinic who specializes in recurrent pregnancy loss. They can refer you to a genetic counselor who can lead you in the right direction.

Finding Your Fertile Path

Miscarriage is rarely the result of something you or your partner did! It’s important to remember that we may never know the causes of all miscarriages. Moreover, there are many non-genetic miscarriage causes that can be addressed naturally or through medical means.

If you’ve experienced multiple miscarriages and suspect you have a genetic issue, take comfort in the fact that many couples with genetic challenges go on to have healthy pregnancies. Be easy on yourself on this road! Take advantage of mind-body therapies to reduce fertility stress. Consider support groups and grief counseling to work on the emotions that may come up. Reach out for support! Give your body extra love through healthy recommendations from us! Please also reach out to us. We’re here to provide education, empowerment, and support as you prepare for your next steps on this journey.


Dr. Christine Traxler M.D., OB/GYN
Dr. Christine Traxler M.D., OB/GYN

Dr. Traxler is a University-trained obstetrician/gynecologist, working with patients in Minnesota for over 20 years. She is a professional medical writer; having authored multiple books on pregnancy and childbirth; textbooks and coursework for medical students and other healthcare providers; and has written over 1000 articles on medical, health, and wellness topics.  Dr. Traxler attended the University of Minnesota College of Biological Sciences and University of Minnesota Medical School,  earning a degree in biochemistry with summa cum laude honors in 1981,  and receiving her Medical Doctorate degree (MD) in 1986.

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