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Case History

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Image not available. A 29-year-old woman and her 30-year-old partner have been trying to conceive for two years and during that time she has had three miscarriages, all occurring between seven and nine weeks. She is otherwise fit and well but her mother suffered a pulmonary embolus during pregnancy.

What further tests would you arrange?

What causes of recurrent miscarriage should be considered?

What is the outlook for future pregnancies?

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Background

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Image not available. Recurrent miscarriage is defined as three miscarriages occurring consecutively. Miscarriage is common, affecting about one in six pregnancies.1 One might expect, therefore, that a third consecutive miscarriage might occur by chance in about 1 in 200 pregnancies. In fact, recurrent miscarriage affects about 1% of couples.

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What further tests would you arrange?

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Generally, couples are advised not to have further investigations until they have suffered three losses.2 This is because investigations may reveal abnormal results which may have no clinical significance but which are subsequently linked to the miscarriage. Inappropriate and potentially dangerous treatment may consequently be initiated. For the majority of women suffering a miscarriage, even a repeated miscarriage, it would have been caused by a sporadic fetal lethal chromosomal or structural abnormality. The loss of an established pregnancy with a fetal heart after ten weeks is relatively unusual and some argue that investigation should be initiated after one such loss. Table 22.1 outlines the tests that are recommended for the investigation of recurrent miscarriage.

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Table Graphic Jump Location
Table 22.1Investigation of recurrent miscarriage
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What causes of recurrent miscarriage should be considered?

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Chromosomal analysis for both male and female
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Balanced translocations (Figure 22.1) occur in one partner in 3%–5% of couples in the recurrent miscarriage population. The individual concerned has no health problems, but his or her gametes will have too little or too much genetic material and will repeatedly form abnormal embryos. Couples should be referred to a geneticist for further advice. Pre-implantation genetic diagnosis may be a possibility but should be balanced against the reduced fertility associated with in vitro fertilization in a healthy fertile couple.

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Figure 22.1

A balanced translocation from chromosome 5 to chromosome 8.

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Antiphospholipid syndrome
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The presence of anticardiolipin antibodies and lupus anticoagulant are associated with recurrent miscarriage.3,4 These antibodies occur in the population at a rate of approximately 2%, but are present in 15% ...

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