How Genetics Can Provide Insight into Pregnancy Loss — Phosphorus

October is Pregnancy and Infant Loss Awareness month. This is a time to recognize families and individuals who have suffered a pregnancy loss. According to the March of Dimes, a nonprofit organization that works to improve the health of mothers and babies, as many as 50% of all pregnancies end in miscarriage. Of those losses, approximately 50% of first trimester miscarriages are due to a chromosome abnormality in the fetus. When it comes to both fertility concerns and miscarriages, many don’t realize genetics can offer valuable insight. In the spirit of this month, we want to help educate and empower the public on how knowing more about your genes can reduce your chances of pregnancy loss and increase your chances of having a healthy child.

What is Recurrent Pregnancy Loss?

Experiencing one miscarriage is unfortunately common and occurs in 10% of all clinically recognized pregnancies. However, if you experience two or more, you may want to speak to your doctor about Recurrent Pregnancy Loss (RPL). The Society of Reproductive Medicine ( ASRM) defines RPL as, “two or more failed pregnancies.” If you’ve had a miscarriage within the first trimester (which is typically in the first twelve to twenty weeks of a pregnancy), there are an array of issues that might be preventing you from carrying a pregnancy to term. Your doctor will look at whether you have an autoimmune condition, endocrine issues, uterine anomalies as well as genetic and/or chromosomal abnormalities with the embryo. The risk of miscarriage can also increase with the number of previous pregnancy losses. You should speak to either your OB/Gyn or a Reproductive Endocrinologist.

Genetic Risk Factors for Pregnancy Loss

There may also be a genetic factor or a balanced translocation causing repeated pregnancy loss. Chromosomal abnormalities, or large changes in the structure of our DNA, may not affect your daily life, but can often prevent us from conceiving healthy embryos. These abnormalities affect both men and women. If you are found to carry an abnormality, often this means that more than 50% of the embryos you produce will not be able to carry to term.

One aspect that isn’t always top of mind is blood clotting issues. Blood clotting factor genes such as F2, F5, PROC, and PROS influence whether you have a predisposition for pregnancy loss, and your physician can help prevent it from happening with the use of therapeutic blood thinners. Blood thinners can significantly reduce the risk of thrombosis during pregnancy. Currently, doctors only test for a genetic risk for blood clotting after women have two miscarriages. If doctors ordered genetic tests earlier, these could be prevented.

Another factor that can cause miscarriage is one you’ve heard about often: the infamous ‘biological clock.’ Age and fertility are a reality and when the mother is over the age of 35, the risk of miscarriage increases as both egg quantity and quality decline and there’s a higher risk of chromosomally abnormalities.

To give you a point of reference, the frequency of early pregnancy loss for women between the ages of 20 to 30 years old is 9% to 17%. At age 40 years old, this rate increases to 40% and then at age 45 years old, it jumps to an exceedingly noteworthy 80% chance of a pregnancy loss. This is why many older women turn to donor eggs.

What Are Your Options?

40 genes are responsible for some of the leading causes of infertility in both men and women, contributing to the conditions mentioned above as well as low sperm count and/or poor sperm quality. Early testing and intervention can provide several options. This is something our PhosphorusOne test looks for. You can bring these results to your doctor to discuss the best way to safely build your family. While you can see either an OB/Gyn or a Reproductive Endocrinologist (RE), an RE specializes in fertility and can run an in-depth series of tests known as a fertility work-up to see if a specific cause can be identified.

If there is a potential genetic concern, most often, in vitro fertilization (IVF) with Preimplantation Genetic Testing for Aneuploidy (PGT-A, previously known as PGS) is recommended. PGT-A can increase your chances of having a healthy baby and decrease your chances of a miscarriage by selecting chromosomally normal embryos.

Experiencing a miscarriage, especially more than one, is incredibly emotional. It can cause profound concern to parents, indicate other health issues and create feelings of anxiety and depression. It’s vital to remember that there are both emotional resources and medical options. The National Infertility Association has support groups across the United States that you can join. In addition, with the help of proper physician oversight and genetic counseling, you can find the right course of action and determine the best way forward to a healthy pregnancy and child.

Originally published at on October 29, 2019.




Phosphorus Diagnostics is using genomics to improve human health. We offer the most comprehensive, actionable #genetic test for disease prevention.

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Phosphorus Diagnostics

Phosphorus Diagnostics

Phosphorus Diagnostics is using genomics to improve human health. We offer the most comprehensive, actionable #genetic test for disease prevention.

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