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Your Pregnancy Matters

What genetic testing after a miscarriage can tell you

Your Pregnancy Matters

Couple holding hands on sofa while talking with genetic counselor holding clipboard
Seeking genetic testing after a miscarriage is a personal decision. For some, having an explanation can be meaningful. Others don’t want testing, or don’t feel that having more information would help them heal.

It’s natural after a miscarriage to ask, “Why did this happen?”

For some people, understanding whether there was a medical explanation can be an important part of processing pregnancy loss. This may be true whether this is your first miscarriage or you have had one before. There is no right way to feel after a miscarriage, and there is no single path for what comes next. If you choose to explore what may have caused your miscarriage, genetic testing is one option that might provide some answers.

As genetic counselors, our role is to help you understand what genetic testing can and cannot tell you, talk through your options, and give you the information you need to make the decision that feels right for you.

While genetic testing is more commonly discussed after recurrent pregnancy loss, some patients choose testing after a first miscarriage because understanding whether a chromosome abnormality was involved can provide information that may be helpful when planning future pregnancies.

Why do miscarriages happen?

About 15% to 25% of pregnancies end in miscarriage, and there are many medical reasons why it may occur. Some potential causes or contributing factors can include abnormalities of the uterus, certain medical conditions, genetic makeup, and serious infections. Often, however, there is no obvious explanation.

In about half of all miscarriages, there is an abnormal amount of chromosomal material. It might be an extra chromosome, as in the case of trisomy 21 or Down syndrome. In other cases, genetic material may be missing from or added to a single chromosome.

Experiencing a roller coaster of feelings, including sadness and guilt, is common after pregnancy loss. However, pregnancy loss is not your fault; most miscarriages are beyond anyone’s control.

Even though genetic testing can’t always determine why a miscarriage occurred and it can’t predict with certainty whether it will happen again, genetic testing can sometimes provide a piece of the puzzle.

Related: “Should you test for MTHFR gene mutation while pregnant or after miscarriage?”

What can genetic testing tell us about pregnancy loss?

The genetic test we most commonly use after a miscarriage is called a chromosomal microarray analysis (CMA). CMA examines the DNA of tissue from the pregnancy, sometimes called products of conception. We may also collect a blood sample from you to help the laboratory distinguish pregnancy tissue from your cells.

Testing the tissue from a miscarriage allows us to look directly at DNA from the pregnancy. That information can be especially useful if another miscarriage occurs later because it may help determine whether the losses appear to have the same or different genetic explanations.

CMA looks across all the chromosomes for extra or missing genetic material. In some cases, those findings can help explain why a pregnancy ended in miscarriage.

Most chromosomal differences related to miscarriage occur randomly and are not inherited. If a CMA finds a potential chromosome abnormality, we can discuss what the findings mean and the chances that it could happen again.

Less often, CMA might identify a chromosome change that suggests an inherited chromosome rearrangement in one of the biological parents. In these cases, we may recommend additional testing to better understand what the findings might mean for future pregnancies.

Sometimes the CMA will come back normal. That doesn’t mean there wasn’t a biological reason for the miscarriage. It simply means the test didn’t identify a chromosome abnormality that explains it.

That’s one reason we encourage patients to speak with a genetic counselor. Genetic testing can provide useful information, but the results need context. We can explain what was found, what wasn’t, whether additional testing may be appropriate, and what the results could mean for a future pregnancy.

How is tissue collected for genetic testing?

Woman seated on exam table talking with physician
Patients interested in genetic testing after a miscarriage should talk with their Ob/Gyn as soon as possible. Because not all medical practices offer genetic testing, patients may need a referral to a specialist.

If you think you might want genetic testing, talk with an Ob/Gyn as soon as possible after the miscarriage. Genetic testing is not routinely offered in every situation, and not all practices offer miscarriage tissue testing. It’s OK to say, “I’d like to know whether there could be a genetic explanation for my miscarriage. Is genetic testing available?”

If you are having a dilation and curettage (D&C) for a miscarriage, the Ob/Gyn can collect pregnancy tissue during the procedure. But you do not need to have a procedure to get CMA testing.

If you pass tissue at home naturally or with medication and you are interested in testing, contact your Ob/Gyn as soon as possible. Because not all Ob/Gyn practices offer miscarriage tissue collection or genetic testing, you may need a referral to a specialist or hospital program that does. They can provide instructions along with a collection kit or a recommendation to place the tissue in a clean container from home and refrigerate it until you can bring it to the office.

CMA testing is available beginning around five weeks of pregnancy. However, early pregnancy samples may contain more maternal tissue, which can make it challenging to get precise results.

Pregnancy loss can be overwhelming, and you don’t have to navigate these decisions alone. An Ob/Gyn can help coordinate medical care, and a genetic counselor can help you understand whether testing makes sense for you.

Related: “How to be a good friend to someone who’s suffered pregnancy loss”

What are the genetic testing options later in pregnancy?

If a pregnancy loss occurs in the second or third trimester or if an ultrasound showed certain fetal differences, additional genetic testing for single-gene disorders or other conditions may be recommended.

The approach may be different after recurrent pregnancy loss, which is defined as two or more consecutive miscarriages. With recurrent losses, your care team may recommend other testing for potential medical causes or chromosome testing of the biological parents.

Are other genetic tests available to provide information prior to another pregnancy?

Another test available for anyone planning a pregnancy is called carrier screening. Carrier screening does not typically explain why a miscarriage occurred. Instead, it tests the biological parents for genetic variants associated with inherited conditions that could potentially be passed to their children. Carrier screening can be performed before, during, or after pregnancy. It can include hundreds of genetic conditions, such as cystic fibrosis, sickle cell disease, or spinal muscular atrophy.

Related: “Stillbirth: What we know (and don’t know) about pregnancy loss”

Getting support after pregnancy loss

Seeking answers after a miscarriage is a very personal decision. For some people, having an explanation can be meaningful. Others may decide testing isn’t right for them or feel that having more information would not help them heal. Both paths are OK.

Pregnancy loss can bring profound grief, along with confusion, guilt, relief, or a mixture of emotions that changes over time. Partners may have different coping styles.

If you or your partner is struggling after a pregnancy loss, support is available. Your care team can connect you with grief resources, social workers, spiritual support, or other services based on what you feel would be most helpful for you.

Our goal isn’t to tell you what you should do after a miscarriage. It is to make sure you know what options are available so you can make the choices that feel right for you.

To talk with an expert about genetic testing related to pregnancy or pregnancy loss, make an appointment by calling 214-645-3838 or request an appointment online.