Gestational Trophoblastic Disease: Types, Symptoms, Diagnosis and Treatment

Gestational trophoblastic disease (GTD) is a rare medical condition in which trophoblast cells in the uterus grow abnormally after fertilisation. You might notice unusual symptoms or learn about it through routine checkups. It can be a difficult time, but most people respond well to treatment and can still plan for healthy pregnancies.

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Gestational trophoblastic disease (GTD) is a rare and complex condition that arises during or after pregnancy. It often brings emotional and medical challenges for those affected.

If you’re facing a diagnosis of GTD or want to learn more, knowing its types, symptoms, risk factors, and treatment can help you understand this condition in a better manner.

What is Gestational Trophoblastic Disease?

GTD refers to a group of rare tumours that develop during the early stages of pregnancy or after pregnancy-related events like miscarriage or abortion. These tumours form when trophoblast cells, which help the embryo implant in the uterus and form part of the placenta, grow abnormally into cysts or tumours instead of a healthy placenta. While most cases are benign (noncancerous), some can become malignant (cancerous) and require immediate treatment. The good news is that most individuals treated for GTD can have healthy pregnancies.

Types of Gestational Trophoblastic Disease

GTD is mainly classified into two types: hydatidiform mole and gestational trophoblastic neoplasia. Each type has unique characteristics.
  1. Hydatidiform Moles (Molar Pregnancy)

A molar pregnancy occurs when a fertilised egg develops abnormally, leading to an overgrowth of trophoblast tissue that forms grape-like cysts in the uterus instead of a viable foetus. There are two types:
  • Complete molar pregnancy: When a sperm fertilises an egg that lacks maternal nuclear DNA and instead has two sets of paternal chromosomes. Due to this, no embryo or normal placental tissue forms.
  • Partial molar pregnancy: The egg has normal maternal DNA but double paternal DNA. A foetus may partially develop but cannot survive, and abnormal tissue forms.
  1. Gestational Trophoblastic Neoplasia (GTN)

GTN includes cancerous forms of GTD that may spread to other parts of the body. The types are:
  • Invasive mole: Abnormal trophoblast tissue grows into the uterine muscle layer. It’s a treatable form of cancer and usually stays within the uterus. However, it might spread to other parts of your body if left untreated.
  • Choriocarcinoma: It is a fast-growing cancerous tumour that can spread to organs like the lungs, kidneys, liver, or brain. It often develops after a molar pregnancy but can occur after a miscarriage, abortion, or normal delivery.
  • Placental-site trophoblastic tumour (PSTT): A rare, slow-growing tumour that forms where the placenta attaches to the uterus. It may not appear until years after a pregnancy and can spread to the lungs, pelvis, or lymph nodes.
  • Epithelioid trophoblastic tumour (ETT): One of the extremely rare cancerous tumours that mimics PSTT and may also spread to the lungs. Like PSTT, it can develop years after pregnancy.

Symptoms of Gestational Trophoblastic Disease

The symptoms of GTD can mimic those of a normal pregnancy or other gynaecological conditions. So it’s important to see a doctor if you notice anything unusual. Not everyone with GTD has symptoms, but these are the common ones that might occur:
  • Abnormal vaginal bleeding or watery brown discharge in early pregnancy or after childbirth, miscarriage, or abortion.
  • A uterus that’s larger than expected for your stage of pregnancy, which may cause your abdomen to appear bigger.
  • Pelvic pain or a noticeable mass in the pelvic area.
  • Severe nausea and vomiting.
  • High blood pressure or swollen hands and feet early in pregnancy.
  • Signs of an overactive thyroid, such as rapid heartbeat, sweating, or weight loss, are due to GTD’s effect on hormone levels.

Cause of Gestational Trophoblastic Disease

The cause of gestational trophoblastic tumours in pregnant individuals is still not fully understood. But they are more likely to develop in people who have previously experienced a molar pregnancy.

Risk Factors of Gestational Trophoblastic Disease

Certain factors can increase your risk of developing GTD:
  • Age: Individuals younger than 20 or older than 35 have a higher risk.
  • History of miscarriage or unsuccessful pregnancies: Past miscarriages, ectopic pregnancies, or abortions may increase your risk.
  • Family history: A strong family history of molar pregnancies can increase your chances.
  • Smoking: Cigarette smoking is linked to a higher risk of GTD.
  • Hyperthyroidism: An overactive thyroid may be associated with GTD in some cases.

Diagnosis of Gestational Trophoblastic Disease

Diagnosing GTD involves a number of methods to confirm the presence of abnormal trophoblast tissue and check if it has spread. Your doctor will take a thorough approach for an accurate diagnosis.
  • Medical history and physical exam: Your doctor will ask about your symptoms, pregnancy history (including miscarriages or molar pregnancies), and perform a pelvic exam to check for lumps or an abnormally large uterus.
  • Blood tests: These measure levels of human chorionic gonadotropin (hCG), the pregnancy hormone, which is often higher than expected in GTD. Blood tests may also check thyroid function or signs of anaemia.
  • Urinalysis: This test checks for changes in sugar, protein, or hormone levels in your urine that may indicate GTD.
  • Transvaginal ultrasound: A small device is inserted into the vagina to create images of your uterus, revealing abnormal tissue or cysts typical of a molar pregnancy.
  • Pap smear: This test examines cervical cells for changes that could indicate GTD or other conditions.
  • Staging tests: If cancerous GTD is found, additional tests like CT scans, MRIs, chest X-rays, or a spinal tap may be used to see if the cancer has spread to the lungs, brain, or other areas.

Treatment Options for Gestational Trophoblastic Disease

Treatment for GTD depends on the type, size, and stage of the tumour, as well as your overall health and whether you want to have children in the future. Some of the main treatment options your doctor might recommend are:
  • Dilation and curettage (D&C) or Aspiration D&C: A vacuum device removes abnormal tissue from the uterus through the dilated cervix, followed by gentle scraping to make sure all tissue is removed. This is the most common treatment for molar pregnancies.
  • Hysterectomy: This surgery removes the uterus and sometimes the fallopian tubes, ovaries, cervix, or nearby lymph nodes. It’s often used for PSTT or ETT, which don’t respond well to chemotherapy. Before considering this option, keep in mind that you won’t be able to get pregnant in the future.
  • Chemotherapy: Anticancer drugs are used to destroy cancerous cells. Low-risk tumours may need a single drug, but high-risk tumours (those that spread) require combination therapy. Your hCG levels are monitored to track treatment success.
  • Radiation therapy: High-energy beams target cancer cells, often used with chemotherapy for tumours that have spread to the brain or lungs.

Study on Gestational Trophoblastic Disease

A study conducted at a tertiary hospital in Kerala, India, from January 2007 to June 2015, analysed 620 cases of GTD. The study found an incidence rate of 3.22 to 7.17 per 1,000 deliveries, peaking in 2010. Most cases were uncomplicated molar pregnancies, but 24.35 per cent progressed to gestational trophoblastic neoplasia. These cases required treatments like methotrexate (MTX) or a hysterectomy. Vaginal bleeding was the most common symptom (78.1%). The study concluded that early diagnosis through ultrasound and consistent beta-hCG monitoring greatly reduced morbidity. This highlights the importance of timely intervention and follow-up care for better outcomes in GTD management.

Prevention of Gestational Trophoblastic Disease

Unfortunately, there are no medicines or treatments to prevent GTD. The only way to avoid it completely is not to become pregnant, but this isn’t practical for most individuals hoping to start a family. While you can’t prevent GTD, being aware of risk factors and seeking early prenatal care can help catch it early if it occurs.

How to Cope if You Are Diagnosed with Gestational Trophoblastic Disease

Learning you have GTD can be overwhelming if it involves the loss of a pregnancy. It’s normal to feel scared or sad, but know that GTD is highly treatable, and your healthcare professional is there to guide you. Reach out to family, friends, or support groups, and don’t hesitate to ask your doctor questions about your diagnosis or treatment options.Gestational trophoblastic disease is a serious condition, but most people recover fully with early diagnosis. You can often preserve fertility for future pregnancies with treatment options like suction curettage, chemotherapy, or hysterectomy. Keep in mind that regular follow-ups are crucial to check for any recurrence.

FAQs on Gestational Trophoblastic Disease: Types, Symptoms, Diagnosis and Treatment

Disclaimer: Medically approved by Dr Sapna Raina, Senior Consultant, Clinical Lead, Obstetrics & Gynaecology, Narayana Health City, Bangalore