Recurrent pregnancy loss is a disease distinct from infertility defined by 2 or more failed clinical pregnancies (a visible gestational sac on ultrasound). Evaluations of RPL may include blood tests, uterine exams, and genetic screening. The purpose of the evaluation of recurrent pregnancy loss is to identify causes that may be treated prior to achieving another pregnancy. Specific causes are identified in approximately half of patients. The investigation usually includes several blood tests and an examination of the uterus.
Genetic testing of both the male and female is performed in order to identify the presence of a chromosomal translocation. In such cases, a small piece of the chromosome in one of the parents is “broken off” and located on another chromosome. That parent is normal; however, when an egg or sperm is made it may contain the extra piece, which upon fertilization may result in an embryo with abnormal chromosome content. This can result in recurrent miscarriages. Future fertility treatment is possible with IVF and PGD.
Evaluation for the antiphospholipid syndrome or for thrombophilia requires several blood tests. If any of these are abnormal, treatment may be necessary during pregnancy that may prevent further miscarriages.
Testing of the uterine cavity is typically accomplished by a hysterosonogram (HSN) which is a simple office procedure requiring the installation of saline into the uterus with a catheter and an ultrasound. If a fibroid, polyp, or uterine anomaly is discovered, these may be surgically treated prior to further pregnancies.