Recurrent miscarriage

Recurrent pregnancy loss, refers to cases where there are three or more spontaneous miscarriages. Spontaneous miscarriage is more common than often thought, occurring in 1-2% of couples, and it’s estimated that 25% to 30% of all pregnancies end in a first-trimester miscarriage.

Various factors contribute to the etiopathogenesis of recurrent spontaneous miscarriage, including environmental, hematological, hormonal, immunological, infectious, uterine malformations, genetic defects, and in some cases, unknown factors.

Approximately half of first-trimester miscarriages are estimated to be related to chromosomal abnormalities. Therefore, in cases of recurrent pregnancy loss, a karyotype analysis of both partners is recommended. Additionally, genetic testing for thrombophilias may be considered.

Karyotype analysis involves the cytogenetic analysis of an individual’s chromosomal complement, investigating the presence of structural and/or numerical chromosomal abnormalities. The presence of chromosomal abnormalities in the fetus can be associated with syndromic clinical presentations that often lead to spontaneous pregnancy loss.

Why undergo genetic testing?

To evaluate if there is a genetic cause underlying recurrent pregnancy loss, and if pathological results emerge, it would provide more information on how to best monitor one’s reproductive risk during any future pregnancies.

When is it recommended?

In cases of three or more spontaneous miscarriages.

How is it performed?

A blood draw is necessary for the test. Both before and after the test, consultation with a Geneticist is scheduled to provide all the necessary information.

How to prepare?

Fasting is not necessary. It is recommended to provide reports related to any previous clinical examinations related to recurrent pregnancy loss.