Laboratory Testing in Reproductive Medicine

Last Literature Review: May 2021 Last Update:

Reproductive medicine encompasses medicine pertaining to the female and male reproductive systems and the process of reproduction. This topic provides a broad overview of laboratory testing in reproductive medicine. Pregnancy and prenatal testing is discussed, as well as testing related to infertility and pregnancy loss, cancers of the reproductive tract, and infections of the reproductive tract.

Laboratory Testing

Pregnancy and Prenatal Laboratory Testing

A variety of laboratory tests are recommended before and during pregnancy to screen for and diagnose conditions that may affect the mother and/or developing infant. Recommended testing includes carrier screening to determine the risk for heritable genetic disease, tests to screen for and diagnose chromosomal abnormalities in the fetus, and tests to monitor the health of both fetus and mother throughout the pregnancy. Visit the ARUP Consult Pregnancy and Prenatal Laboratory Testing topic for an overview of carrier screening, prenatal screening and diagnostic tests for chromosomal abnormalities and neural tube defects, testing for hematologic conditions in pregnancy, infectious disease testing during pregnancy, and other laboratory testing during pregnancy.

Infertility and Pregnancy Loss

Infertility and pregnancy loss are important issues in reproductive medicine. In addition to laboratory testing, a thorough medical history, imaging, and procedures to evaluate the genitourinary system can be performed to identify the underlying cause of infertility or pregnancy loss. Causes of infertility may include conditions such as polycystic ovarian syndrome or male hypogonadism; imbalances in sex hormones such as estrogen, progesterone, and androgens; or imbalances in other hormones, such as thyroid-stimulating hormone. Refer to the ARUP Consult Infertility topic for additional information.

Cancers of the Reproductive Tract

Reproductive medicine addresses cancers related to the reproductive system, including prostate, uterine, cervical, ovarian, and testicular cancer. Laboratory testing plays a limited role in certain cancers (eg, surgical pathology in uterine and testicular cancers). In other reproductive system cancers, laboratory testing plays a prominent role (eg, in screening, diagnosis, and/or prognosis). Refer to the following individual ARUP Consult topics for additional detail:

Breast cancer is sometimes considered a reproductive cancer. For more information on laboratory testing in breast cancer, visit the ARUP Consult Breast Cancer Biomarkers topic.

Infections of the Reproductive Tract

Sexually Transmitted Infections

Common sexually transmitted nonviral infections include chlamydia (Chlamydia trachomatis), gonorrhea (Neisseria gonorrhoeae), and Trichomonas vaginalis. The ARUP Consult Sexually Transmitted Infections topic discusses laboratory testing for these conditions in detail.

Human papillomavirus (HPV) is the most common sexually transmitted viral infection and is the etiologic agent for most cases of cervical cancer. For a discussion of HPV testing, refer to the ARUP Consult Human Papillomavirus (HPV) Testing - Cervical Cancer Screening topic.

Other sexually transmitted infections include HIV, syphilis, and herpes simplex virus (HSV). For more information, refer to the following individual ARUP Consult topics:


Conditions that commonly result in vaginitis include vaginal candidiasis and bacterial vaginosis. Vaginal candidiasis, or yeast infection, is a very common condition that is generally readily treated. Bacterial vaginosis is a common clinical syndrome that may exhibit symptoms similar to those of vaginal candidiasis. A panel test may be useful to identify shifts in the vaginal microbiota that lead to symptoms. The ARUP Consult Vaginitis topic provides additional information.