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Genetic Testing After Miscarriage: Providing Insight and Hope

genetic testing after miscarriage

Experiencing one miscarriage can cause a range of emotions. A miscarriage can take a physical toll on the body in addition to the emotional experience. Then to endure more than one pregnancy loss can create additional concern and frustration. According to the American Society for Reproductive Medicine (ASRM), if you’ve had more than two pregnancy losses, you should seek the guidance of a reproductive endocrinologist. Speaking with a doctor about possible causes and whether they recommend genetic testing after miscarriage could provide insight, options and hope into your family building goals.

Genetic Testing After Miscarriage: Why Would One Consider Genetic Testing?

You may wonder why one would consider genetic testing after miscarriage. Studies show that most miscarriages occur due to a chromosomal imbalance. If you’ve experienced two or more pregnancy losses, this would be described as “Recurrent Pregnancy Loss” (RPL). Approximately 80 percent of miscarriages occur in the first trimester. According to the American Pregnancy Association (APA), approximately 10 to 25 percent of all clinically recognized pregnancies will result in a miscarriage, so unfortunately, it is more common than one may think.

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While pregnancy losses within the first trimester can be caused by a variety of factors that include autoimmune issues, endocrine issues, and uterine anomalies, the most common cause is typically a chromosomal abnormality. Genetic testing after miscarriage is often recommended. However, you should speak to your doctor and to determine what other tests he or she would suggest. This might include basic testing, such as blood work and ultrasound, or more cutting-edge tests like Endometrial Receptivity Analysis (ERA) if they feel implantation might be a concern. ERA can determine your personalized implantation window. This way, your doctor will know the ideal time to transfer the embryo during your IVF cycle to give it the best chance of implanting in the uterus.

Genetic Testing After Miscarriage: Are There Other Tests I Should Consider?

As mentioned, your doctor will advise you depending on your pregnancy history, what your initial blood work, ultrasound, reproductive work-up and family goals are. However, it might not be a bad idea to familiarize yourself with other tests and options available, so you can feel empowered when speaking to your doctor about them.

In general, your reproductive endocrinologist will take the results of your tests, put together a suggested protocol that will include several options for you to discuss. The doctor will likely review any results from genetic testing after miscarriage if you completed that type of testing after a pregnancy loss.

Your doctor may discuss assisted reproductive technology such as in vitro fertilization (IVF) plus a form of genetic testing after miscarriage known as Preimplantation Genetic Testing for Aneuploidy, previously known as PGS. Since chromosomal abnormalities are responsible for roughly 70 percent of miscarriages, PGS can increase your chances of having a healthy baby and decrease your chances of a miscarriage by selecting chromosomally normal embryos for future embryo transfers.

If you and/or your partner have a diagnosis of a genetic condition, or have a known increased risk to have a child affected with a genetic disease, your doctor might suggest Preimplantation Genetic Testing for Monogenic Diseases (PGT-M), formerly known as PGD.

A test called Products of Conception (POC) can help determine the cause of a miscarriage. If you’ve been going through fertility treatment or you’re already under the care of a doctor and had a pregnancy loss, POC testing may be offered. POC testing is performed on the tissue from the lost pregnancy and evaluates the chromosomes to help provide insight into what may have caused the
miscarriage.

On the path to pregnancy there can be unexpected heartbreak. Please know that there are several support organizations out there that include: March of Dimes, Resolve the National Infertility Association, and Pregnancy After Loss Support. It’s also important not to judge your feelings as “right” or “wrong” and communicate what you need to get through a difficult time.

When it comes to communication, include your doctor and medical team. While few imagine needing medical intervention when it comes to building a family, if you’ve gone through several pregnancy losses, having the technology available like genetic testing after miscarriage may be a comfort. If it can provide answers to help inform how to best increase your chances to have a healthy family, then we hope you’ll consider it as you work towards your goal of being a parent.

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