Positive serum β-human chorionic gonadotropin (β-hCG) testing in reproductive-age women generally indicates a pregnancy and to a lesser extent gestational trophoblastic disease (GTD) or a germ cell tumor (GCT). Other non-pregnant or false-positive causes of serum β-hCG testing include pituitary hormone production in perimenopausal or postmenopausal women, heterophilic antibody interference, chronic renal disease, familial β-hCG, and exogenous hCG administration for assisted reproductive technology. Non-gynecologic cancer can be associated with positive β-hCG results. We review the general physiology of the β-hCG molecule and typical approaches to β-hCG testing. We present an algorithm to help guide clinicians in evaluating the non-pregnant or false-positive causes of positive β-hCG test results.

A small but important fraction of cancer are primarily due to a hereditary cancer predisposition, and their diagnosis has significant clinical implications for both index cases and their families. Germline BRCA1BRCA/2 pathogenic variants (PVs) can lead to the Hereditary Breast and Ovarian Cancer (HBOC) Syndrome and identification of both germline and somatic BRCA1/BRCA2 PVs have important treatment implications. In addition, endometrial cancer is closely associated with inherited PVs in the mismatch repair (MMR) genes which leads to Lynch syndrome. Both HBOC and Lynch syndrome affect around 1:300 people, most of whom are undiagnosed. Genetic panel testing is crucial to identifying PV carriers, before a sentinel cancer, who can then be offered prophylactic interventions such as risk reducing salpingo-oophorectomy (RRSO). Within this chapter we discuss the most common hereditary cancer syndromes associated with gynecological cancer. These include HBOC, Lynch syndrome, the moderate penetrant genes including RAD51C, RAD51D, BRIP1, PALB2, and ATM as well as rarer hereditary cancer syndromes including Cowden syndrome (PTEN), DICER1, Rhabdoid Tumor Predisposition syndrome (SMARCB1, SMARCA4) and Peutz-Jeghers syndrome (STK11).

Obstetrician-gynecologists are frequently consulted during an episode of abnormal uterine bleeding (AUB) to stop bleeding acutely and to prevent further bleeding during cancer treatment. Women with hematologic malignancies, such as acute myelogenous leukemia (AML), are the most frequently affected and new onset heavy menstrual bleeding may be the chief complaint leading to their diagnosis. Cancer and cancer treatments including chemotherapy, total body irradiation, and conditioning regimens for bone marrow or stem cell transplant can induce thrombocytopenia and lead to AUB. Main treatment options include oral contraceptive pills (OCPs), gonadotropin-releasing hormone (GnRH) agonists, and progestin-only hormone therapy. Algorithms are available to guide treatment and medical management is first line, especially in patients who have not completed childbearing. The risk of venous thromboembolism and need for contraception are special considerations when choosing a treatment for AUB in this patient population.