Which tests are done in recurrent pregnancy loss and which are not routinely recommended? Information on karyotype, genetic testing of tissue and PGT-A.
Recurrent pregnancy loss is the loss of more than one pregnancy, and in many couples no single explanatory cause can be found. Genetic assessment is only one part of this process; the aim is not to have as many tests done as possible, but to choose the ones that are suitable and meaningful for you. The information below offers a general framework and does not replace a diagnosis or treatment recommendation specific to you.
What does recurrent pregnancy loss mean?
Current guidelines on this subject define recurrent pregnancy loss as the loss of more than one pregnancy; ectopic pregnancy and molar pregnancy are excluded from this definition. There is also a difference of opinion among experts about how the definition should cover consecutive or non-consecutive losses. At what stage the assessment will start is discussed with your doctor according to your history.
Can the cause of pregnancy losses always be found?
Behind recurrent losses there may be genetic factors, conditions relating to the structure of the uterus, hormonal and clotting-related factors, or conditions linked to the immune system. In many couples, however, no particular cause is found despite the investigations done. This does not mean an incomplete investigation; at the current level of knowledge, unexplained loss is a common picture. A pregnancy loss should not be interpreted as the result of something you did or did not do.
What information and investigations are needed in the first assessment?
The assessment starts with a detailed history of your previous pregnancies: at what stage the losses occurred, any pathology or genetic reports you have, problems present at birth in your family and the medicines you use are asked about. Ultrasound makes it possible to see the shape of the uterus and changes in the uterine muscle. Current guidelines on this subject add, as a conditional recommendation, that an ultrasound can be done to exclude adenomyosis.
Is it necessary to do every test?
More tests do not always mean more information; tests that have not been shown to be useful can bring unnecessary anxiety and expense. Current guidelines on this subject state that HLA typing in the woman and HLA antibody testing are not recommended in clinical practice. Current assessments do not recommend the routine use of tests and treatments aimed at the immune system either. Screening for inherited clotting tendency is not recommended routinely outside research; assessment of antiphospholipid antibodies, on the other hand, is recommended.
Is the tissue from the lost pregnancy examined?
Genetic examination of tissue taken from the lost pregnancy is not recommended routinely in current guidelines; but it can be done to explain the cause of the loss. The examination can help to understand whether the loss was due to a problem at the chromosome level. Such a finding guides whether your own structural or genetic situation needs to be assessed separately. Because the tissue needs to be set aside under suitable conditions for the examination, it is useful to discuss this option with your doctor when a loss occurs. No change being found in the result also gives information; but the results may not always give a clear answer, and there may be uncertain results or results that are hard to interpret.
Should you and your partner have a chromosome analysis?
Chromosome analysis of you and your partner is not a test requested routinely in every recurrent loss. It is considered after an individual risk assessment. A normal result does not mean that the pregnancy losses are not genetic; because the loss may come not from your chromosome structure but from changes specific to that pregnancy.
What does genetic counselling give you?
When an abnormal result is found or there is a relevant history in your family, genetic counselling helps you to understand what the result means and what options there are. In counselling, the pros and cons of the options are discussed together; the decision belongs to you and your partner.
Is PGT-A recommended to everyone in recurrent losses?
The screening method that examines the number of chromosomes of embryos is called PGT-A. In recurrent pregnancy loss, the benefit of PGT-A has not been shown; the relevant studies are limited in number and of low certainty. Current assessments do not recommend routine PGT-A either. Before you choose it, you need to know that the method has limits and has not been shown to increase live birth. The IVF process, for its part, carries its own medicine, procedure and multiple-pregnancy risks.
Can PGT-SR be considered if there is a structural chromosome change?
If a structural chromosome change is found in you or your partner, the approach called PGT-SR, which investigates this structural problem in the embryo, may be considered. What this approach can provide and what it will not provide should be discussed in detail in genetic counselling. Its applicability depends on legal regulations and on a personal assessment.
If a finding is found in the structure of the uterus, is surgery needed?
Structural conditions that affect the uterine cavity are only one of the causes that are assessed. The relationship of each of these conditions with pregnancy loss and the benefit of surgery are not proven at the same level; according to current guidelines, the benefit of septum surgery in reducing pregnancy loss is uncertain; no benefit could be shown in a single small study, and this is a conditional recommendation whose supporting data are very limited. Therefore finding something in the structure of your uterus does not mean that surgery is automatically necessary. The decision is made together with your doctor according to the type of finding, your history and the limits of the data.
How can you get support after the losses you have experienced?
Experiencing pregnancy losses one after another can lead to intense feelings such as grief, anger, guilt and anxiety. Current guidelines also emphasise that the emotional impact should be taken into account and that those carrying out the assessment should have the skill of listening. Sharing what you have experienced with a doctor, with a specialist who offers psychological support or with people you trust can lighten your load. If your sadness or hopelessness is intense, turn to a mental health professional.
It is useful for the plan for the next pregnancy to be created together with your doctor, with your existing reports and results assessed together.
Frequently Asked Questions
If the pregnancy tissue is examined, which method is preferred?
Current guidelines on this subject count the method called array-CGH, as a strong recommendation, if chromosome examination of the pregnancy tissue is to be done. The details of the method are discussed with your doctor and the laboratory.
Is a thyroid test done?
Current guidelines on this subject recommend assessment of thyroid function. In people whose thyroid function is normal and who are positive only for the antibody, starting thyroid hormone medicine is not recommended.
If the karyotype result is abnormal, is there no chance of a later pregnancy?
Current guidelines recommend telling you that the cumulative live birth rates are good even if an abnormality is found. It is useful to discuss with genetic counselling and with your doctor what the result means for you.
Does finding no cause at the end of the assessment mean an incomplete investigation was done?
No. In many couples no particular cause is found despite the investigations. You should not interpret the pregnancy loss as the result of something you did or did not do.
Is the tissue taken from a pregnancy loss examined genetically in everyone?
No. It is not recommended routinely; it can be considered to explain the cause of the loss. The result may not always give a definite answer.
Must my partner and I definitely have a karyotype test?
No. Chromosome analysis of the parents is not requested routinely in every recurrent loss; it is considered after your individual risk assessment.
Does a normal karyotype rule out a genetic cause?
No. The loss may be related to changes specific to that pregnancy, independently of your chromosome structure.
Does having more tests always bring more benefit?
No. Tests that have not been shown to be useful can bring unnecessary anxiety and expense. HLA typing and HLA antibody testing are not recommended in clinical practice; screening for inherited clotting tendency is also not recommended routinely outside research.
Is PGT-A recommended routinely in recurrent losses?
No. Its benefit and an increase in live birth have not been shown. The studies are limited in number and of low certainty.
Can we receive genetic counselling if a structural chromosome change is found?
Yes. The meaning of the result and the options are discussed in counselling. PGT-SR may be considered; its applicability is determined by legal regulations and a personal assessment.
Does seeing a septum in the uterus mean surgery is necessarily needed?
No. The benefit of septum surgery in reducing pregnancy loss is uncertain. The decision is made according to your finding, your history and the limits of the data.
Can I get psychological support after the losses?
Yes. You can share your feelings of grief, anxiety or guilt. If your sadness or hopelessness is intense, turn to a mental health professional.
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