Recurrent Miscarriage: A Form of Infertility, Page 2

Hormonal

While hormonal dysfunction may cause miscarriage less frequently than genetic/chromosomal conditions (see below) in the general population, it may be of greater significance in those seeking fertility treatment.

Frequently, women who have hormonal imbalances which cause conception difficulty will also experience early miscarriage as a result of those same imbalances. Again, these situations are largely correctable, but often go undetected until loss has occurred:

  • Luteal phase defect, in which the body's two primary reproductive cycles, the ovulatory and the menstrual, are not in-sync, thereby producing a situation in which the uterus is not ready to receive a fertilized egg
  • Untreated thyroid disease, most notably hypothyroidism
  • Poorly controlled diabetes, particularly in the first trimester

If you're not sure about your own hormonal status yet, think about your family's. Many endocrine conditions are inherited, and many occur without symptoms at first. An endocrinologist is the best specialist to help you detect a problem in this area.

Genetic/Chromosomal

Perhaps by far the most common cause of early miscarriage, there is still a lot of mystery surrounding chromosomal issues -- but not for long. With completion of the Human Genome Project, scientists are able to learn more than ever before about our genetic makeup and effects on our lives.

It is believed that more than 60 percent of all first trimester losses are the result of abnormal chromosome structure (structural anomalies) or number (aneuploidies).

The mystery involves genetic testing (sometimes referred to as chromosomal testing or karyotyping) and whether or not it is performed. Unless testing on the actual embryo or fetus is done, it is impossible to determine that a loss was chromosomally related. Testing of the parents can help lead a couple in the direction of knowing, by shedding light on whether either or both of them have any chromosomal conditions that would create a non-viable conceptus.

In determining the need for genetic testing, a degree of risk (for example, high or low risk) will be assessed. The following should be considered:

  • Number and circumstances of previous miscarriages
  • Previously-born children with known congenital malformations or conditions
  • Extended family background and inheritable disorders
  • Maternal age
  • Other tests, such as ultrasound, indicating need for further investigation (for prenatal testing)
  • Maternal health or illness (for prenatal testing)
  • Known exposure to a teratogenic substance (for prenatal testing)
  • Risks and benefits for the patient of testing

Why isn't genetic testing offered across the board, to every couple who is seeking infertility treatment? For several reasons, perhaps the most important being that all tests have a certain amount of inaccuracy and false results due to human error. So the risks and benefits of testing must be carefully weighed for each situation. Also, it simply would not be cost-effective to test the vast majority of individuals whose results will be normal.

That said, it should be possible for anyone to request genetic testing, regardless of known risks, if the patient is willing and able to pay for the tests and related counseling. Because of the enormous complexity of genetic testing and its results, counseling should always be a part of the process.

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