Gestational Trophoblastic Disease

What Is Gestational Trophoblastic Disease? 

Doctors define gestational trophoblastic disease (GTD) as a group of rare diseases in which tumors grow in the tissues formed in the uterus after fertilization. 

In a normal pregnancy, the tissue formed after conception (the meeting of sperm and egg) is composed of trophoblast cells surrounding the fertilized egg in the uterus. These cells help to form part of the placenta — the reproductive organ that delivers nutrients from the mother to the fetus. But with gestational trophoblastic disease, a tumor forms in the uterus after conception instead of a healthy fetus.

Until you have symptoms of GTD, a pregnancy with GTD will mimic the signs and symptoms of a normal pregnancy.

Most GTD is benign (noncancerous) and doesn't spread, but some types may be malignant (cancerous) and can spread throughout the body.

There are many forms of GTD, but the most common is a hydatidiform mole, which is more commonly known as a molar pregnancy. Over 80% of hydatidiform moles are noncancerous. 

How common is gestational trophoblastic disease?

GTD occurs in about 1 out of 1,000 pregnancies in the U.S.

What are the types of gestational trophoblastic disease?

There are many types of gestational trophoblastic disease, but some are more common than others.

• Choriocarcinoma — A cancerous tumor that develops from the cells that help an embryo attach to the lining of the uterus. This type of tumor grows quickly and can spread to other body tissues (especially the lungs) through the bloodstream. It usually occurs after fertilization but rarely will occur on its own in an ovary.
• Epithelioid trophoblastic tumor — A very rare form of GTD often found in the cervix that may spread to the lungs if cancerous. This slow-growing tumor often develops during a normal pregnancy but can take years to discover. Often resistant to chemotherapy, this tumor is usually treated with a hysterectomy (removal of the uterus).
• Hydatidiform mole — Also called a molar pregnancy, hydatidiform mole (HM) is the most common form of GTD. HM tumors grow from the cells that help an embryo attach to the lining of the uterus. Slow-growing and usually benign (noncancerous), HMs sometimes behave like cancer or develop into a choriocarcinoma or invasive mole.
• Invasive moles — These moles grow into the muscle of the uterus. They're more likely to grow and spread than a hydatidiform mole, but also may disappear without treatment. Occasionally, a hydatidiform mole may develop into an invasive mole. 
• Placental-site trophoblastic tumors — An extremely rare form of cancerous GTD that begins in the uterus where the placenta was attached to the uterine lining. It may spread to other parts of the body, especially the lungs, pelvis, or lymph nodes, and develop slowly, often months or years after pregnancy. Because these tumors can be resistant to chemotherapy, a hysterectomy often is required.

What is a molar pregnancy?

A molar pregnancy occurs after fertilization and often resembles a normal pregnancy at first. Some deformed embryonic tissue may be present.

Sometimes, the body will abort hydatidiform moles on its own by spontaneous abortion or miscarriage. But when it doesn't, a dilation and curettage (D&C) procedure may be needed to remove the abnormal tissue from the uterus. 

Having a hydatidiform mole significantly increases the likelihood that you'll have an HM in subsequent pregnancies.

There are two types of hydatidiform moles:

• Partial — Formed when there are two sets of paternal DNA in a fertilized egg, resulting in only part of the fetus forming.
• Complete — Formed when there's no maternal DNA in a fertilized egg, only paternal DNA. 

The risk of invasive disease in a complete molar pregnancy is approximately 15% to 20%, and in a partial molar pregnancy is 1% to 5%.

What causes gestational trophoblastic disease?

Gestational trophoblastic disease can occur during or after a normal pregnancy. It can also occur after a tubal pregnancy, in which the fertilized egg implants in the fallopian tube rather than the uterus, as well as following a miscarriage or termination.

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What Are the Symptoms of Gestational Trophoblastic Disease?

A person with GTD may experience a pregnancy that mimics the signs and symptoms of a normal pregnancy until symptoms of GTD appear.

Symptoms of gestational trophoblastic disease may include:

• Not feeling fetal movement when expected.
• Anemia, which may cause fatigue, shortness of breath, dizziness, and a fast or irregular heartbeat.
• Dark brown to bright red vaginal bleeding during the first trimester.
• High blood pressure with headache and swelling of the feet and hands.
• Larger than expected uterus during pregnancy.
• Nausea and vomiting.
• Ovarian cysts.
• Overactive thyroid (hyperthyroidism), which causes a fast or irregular heartbeat, shakiness, sweating, frequent bowel movements, difficulty sleeping, anxiousness or irritability, and weight loss.
• Passing small, round cysts through the vagina.
• Pelvic pain or pressure.
• Preeclampsia (high blood pressure after 20 weeks of pregnancy).
• Vaginal bleeding that persists longer than usual after delivering your baby.

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How Do You Diagnose Gestational Trophoblastic Disease?

Your doctor will perform a physical exam and take your medical history to diagnose GTD. They'll also do a pelvic exam and run tests.

Tests to diagnose gestational trophoblastic disease

A variety of tests can diagnose and screen for gestational trophoblastic tumors, including:

• Blood test — This test can measure the level of certain chemicals in your blood to determine if your organs are functioning properly or if abnormalities are present.
• Chest x-ray — A chest x-ray may be performed when GTD is suspected, as this disease commonly spreads to the lungs.
• Complete blood count (CBC) — This test measures the number and quality of your white and red blood cells and platelets.
• CT scans — An imaging procedure using x-ray technology and digital imagery to generate a precise, 3D image, revealing the location and shape of tumors. Sometimes, this test uses a special dye that makes the images show more detail.
• Dilation and curettage (D&C) — A procedure in which an instrument called a curette is used to scrape abnormal tissue from the lining of the uterus. GTD is sometimes discovered during a D&C.
• hCG test — A blood and urine test that measures the level of human chorionic gonadotropin (hCG), a protein indicating pregnancy. In cases where gestational trophoblastic disease is suspected, there may be abnormal levels of hCG.
• Lumbar puncture — Also known as a spinal tap, this is a test in which a small amount of cerebrospinal fluid is extracted from the space around the spine and examined under a microscope. A lumbar puncture can be used to test for hCG, but it's only used in instances when GTD has spread to the brain or spinal cord.
• MRI — This test uses powerful magnetic forces to render a 3D image of your organs, tissue, bones, and blood vessels. It's only used when GTD has spread to the brain, spinal cord, or uterine wall. 
• PET scan — This test uses radiopharmaceuticals to render 3D colored images. A PET scan is only used to look for GTD that has spread beyond the uterus or has recurred after treatment.
• Placental exam – After giving birth, the placenta can be examined in a lab. Sometimes, GTD is discovered during this exam.
• Serum tumor marker test — Certain substances called tumor markers are made by the organs, tissues, or tumor cells in the body at increased levels and are linked to specific types of cancers. With GTD, this tumor marker is beta human chorionic gonadotropin (beta-hCG), a hormone produced during pregnancy. A serum tumor marker test will examine a sample of blood for the presence of beta-hCG which, in the blood of a woman who is not pregnant, may be a sign of GTD. Low levels of the tumor marker human placental lactogen (hPL) may also indicate that the placenta and fetus are not developing normally.
• Ultrasound (sonography) — A noninvasive test using high-frequency sound waves to produce real-time pictures of tumors. There are two types of ultrasound that may be used to diagnose gestational trophoblastic disease: An abdominal ultrasound, which is performed by rolling a transducer over the belly, and a transvaginal ultrasound, which is performed by inserting the transducer into the vagina.

Gestational trophoblastic disease prognosis

It's normal to be concerned if you're diagnosed with gestational trophoblastic disease, but it's important to remember that the prognosis for GTD is very good. GTD can usually be cured, and people with GTD have very high survival rates. With or without surgery, the cure rate of GTD through the use of chemotherapy and radiation is 80% to 90%.

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How Do You Treat Gestational Trophoblastic Disease?

If you're diagnosed with GTD, your treatment will depend on a number of factors, such as:

• How many tumors you have.
• How soon your tumor was diagnosed upon becoming pregnant.
• If you've been previously treated for GTD.
• If you have other medical conditions.
• The level of beta-hCG in your blood.
• The location of your tumors.
• The size of your largest tumor.
• The stage of your cancer.
• The type of GTD you have.
• Whether GTD occurred after a molar pregnancy, miscarriage, or normal pregnancy.
• Whether the tumor has spread to other parts of your body.
• Your age.
• Your desire to have children in the future.

Your doctor will work with you to consider your options and determine a course of action.

Surgery for gestational trophoblastic disease

Surgery is often the recommended treatment for gestational trophoblastic tumors.

Surgery to treat GTD may include:

• Dilation and curettage (D&C) — Removal of abnormal tissue in the uterus.
• Hysterectomy — Removal of the uterus and/or cervix.
• Removal of tumors — Removal of the tumors may be required in cases where GTD has metastasized (spread) and is often the option when the tumors are resistant to chemotherapy.

Chemotherapy for GTD

In some instances, your doctor may recommend chemotherapy, whether neoadjuvant (before) or adjuvant (after) surgery. Chemo can control an aggressive cancer or reduce the risk of recurrence.

Radiation therapy for gestational trophoblastic disease

Your doctor may also recommend radiation therapy to treat GTD, either alone or with other treatments. Radiation therapy uses high-energy x-rays to kill cancer cells.

Other options for treating GTD

You may also have access to additional treatment options and services, including:

• Clinical trials — Participating in clinical trials can help develop new strategies for diagnosing, treating, and preventing gynecologic cancers. 
• Integrative, holistic medicine — This may include both conventional and complementary therapies personalized to help manage your disease, strengthen self-awareness, prevent illness, and improve your health.
• Fertility preservation — Because GTD affects your reproductive organs, infertility may arise as a result of your treatment. Should you wish to have children following your treatment, an infertility specialist will oversee your treatment. 
• Supportive care for you and your family — Supportive care is intended to enhance your quality of life at any stage of your cancer or treatment. Therapists, social workers, clergy members, and other professionals are available to help you navigate the emotional and psychological experiences surrounding your GTD diagnosis and treatment.

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