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Gestational trophoblastic disease (GTD) is a term used for a group of pregnancy-related tumours. These tumours are rare, and they appear when cells in the womb start to proliferate uncontrollably. The cells that form gestational trophoblastic tumours are called trophoblasts and come from tissue that grows to form the placenta during pregnancy.
There are several different types of GTD. Hydatidiform moles are benign in most cases, but sometimes may develop into invasive moles, or, in rare cases, into choriocarcinoma, which is likely to spread quickly, but which is very sensitive to chemotherapy, and has a very good prognosis. Gestational trophoblasts are of particular interest to cell biologists because, like cancer, these cells invade tissue (the uterus), but unlike cancer, they sometimes "know" when to stop.
GTD can simulate pregnancy, because the uterus may contain fetal tissue, albeit abnormal. This tissue may grow at the same rate as a normal pregnancy, and produces chorionic gonadotropin, a hormone which is measured to monitor fetal well-being.
While GTD overwhelmingly affects women of child-bearing age, it may rarely occur in postmenopausal women.
Molar pregnancies usually present with painless vaginal bleeding in the fourth to fifth month of pregnancy. The uterus may be larger than expected, or the ovaries may be enlarged. There may also be more vomiting than would be expected (hyperemesis). Sometimes there is an increase in blood pressure along with protein in the urine. Blood tests will show very high levels of human chorionic gonadotropin (hCG).
Gestational trophoblastic disease (GTD) may also be called gestational trophoblastic tumour (GTT).
Hydatidiform mole (one type of GTD) may also be called molar pregnancy.
Persistent disease; persistent GTD: If there is any evidence of persistence of GTD, usually defined as persistent elevation of beta hCG (see «Diagnosis» below), the condition may also be referred to as gestational trophoblastic neoplasia (GTN).
Some women with uterine fibroids do not have symptoms. Abdominal pain, anemia and increased bleeding can indicate the presence of fibroids. There may also be pain during intercourse, depending on the location of the fibroid. During pregnancy, they may also be the cause of miscarriage, bleeding, premature labor, or interference with the position of the fetus. A uterine fibroid can cause rectal pressure. The abdomen can grow larger mimicking the appearance of pregnancy. Some large fibroids can extend out through the cervix and vagina.
While fibroids are common, they are not a typical cause for infertility, accounting for about 3% of reasons why a woman may not be able to have a child. The majority of women with uterine fibroids will have normal pregnancy outcomes. In cases of intercurrent uterine fibroids in infertility, a fibroid is typically located in a submucosal position and it is thought that this location may interfere with the function of the lining and the ability of the embryo to implant.
Molar pregnancy is an abnormal form of pregnancy in which a non-viable fertilized egg implants in the uterus and will fail to come to term.
A molar pregnancy is a gestational trophoblastic disease which grows into a mass in the uterus that has swollen chorionic villi. These villi grow in clusters that resemble grapes. A molar pregnancy can develop when a fertilized egg does not contain an original maternal nucleus. The products of conception may or may not contain fetal tissue. It is characterized by the presence of a hydatidiform mole (or hydatid mole, mola hydatidosa). Molar pregnancies are categorized as partial moles or complete moles, with the word "mole" being used to denote simply a clump of growing tissue, or a "growth".
A complete mole is caused by a single sperm (incidence is about 90%) or two (incidence is about 10%) sperms combining with an egg which has lost its DNA (in the first case the sperm then reduplicates forming a "complete" 46 chromosome set). The genotype is typically 46,XX (diploid) due to subsequent mitosis of the fertilizing sperm, but can also be 46,XY (diploid). 46,YY (diploid) is not observed. In contrast, a partial mole occurs when a haploid egg is fertilized by two sperm or by one sperm which reduplicates itself yielding the genotypes of 69,XXY (triploid) or 92,XXXY (tetraploid). Complete hydatidiform moles have 2 - 4% risk of developing into choriocarcinoma in Western countries and 10 - 15% in Eastern countries and overall, also a 15% chance of becoming an invasive mole. Incomplete moles can become invasive (<5% risk) but are not associated with choriocarcinoma. Complete hydatidiform moles account for 50% of all cases of choriocarcinoma.
Invasive hydatidiform mole, also known as invasive mole and chorioadenoma destruens is a type of neoplasia that grows into the muscular wall of the uterus. It is formed after conception (fertilization of an egg by a sperm). It may spread to other parts of the body, such as the vagina, vulva, and lung.
Trophoblastic neoplasms derive from trophoblastic tissue. Examples include:
- Choriocarcinoma
- Hydatidiform mole
A unicornuate uterus represents a uterine malformation where the uterus is formed from one only of the paired Müllerian ducts while the other Müllerian duct does not develop or only in a rudimentary fashion. The sometimes called "hemi-uterus" has a single horn linked to the ipsilateral fallopian tube that faces its ovary.
Uterine fibroids, also known as uterine leiomyomas or fibroids, are benign smooth muscle tumors of the uterus. Most women have no symptoms while others may have painful or heavy periods. If large enough, they may push on the bladder causing a frequent need to urinate. They may also cause pain during sex or lower back pain. A woman can have one uterine fibroid or many. Occasionally, fibroids may make it difficult to become pregnant, although this is uncommon.
The exact cause of uterine fibroids is unclear. However, fibroids run in families and appear to be partly determined by hormone levels. Risk factors include obesity and eating red meat. Diagnosis can be performed by pelvic examination or medical imaging.
Treatment is typically not needed if there are no symptoms. NSAIDs, such as ibuprofen, may help with pain and bleeding while paracetamol (acetaminophen) may help with pain. Iron supplements may be needed in those with heavy periods. Medications of the gonadotropin releasing hormone agonist class may decrease the size of the fibroids but are expensive and associated with side effects. If greater symptoms are present, surgery to remove the fibroid or uterus may help. Uterine artery embolization may also help. Cancerous versions of fibroids are very rare and are known as leiomyosarcomas. They do not appear to develop from benign fibroids.
About 20% to 80% of women develop fibroids by the age of 50. In 2013, it was estimated that 171 million women were affected. They are typically found during the middle and later reproductive years. After menopause, they usually decrease in size. In the United States, uterine fibroids are a common reason for surgical removal of the uterus.
A placental disease is any disease, disorder, or pathology of the placenta. The article also covers placentation abnormalities, which is often used synonymously for placental disease.
Up to 10% of women with ectopic pregnancy have no symptoms, and one-third have no medical signs. In many cases the symptoms have low specificity, and can be similar to those of other genitourinary and gastrointestinal disorders, such as appendicitis, salpingitis, rupture of a corpus luteum cyst, miscarriage, ovarian torsion or urinary tract infection. Clinical presentation of ectopic pregnancy occurs at a mean of 7.2 weeks after the last normal menstrual period, with a range of 4 to 8 weeks. Later presentations are more common in communities deprived of modern diagnostic ability.
Signs and symptoms of ectopic pregnancy include increased hCG, vaginal bleeding (in varying amounts), sudden lower abdominal pain, pelvic pain, a tender cervix, an adnexal mass, or adnexal tenderness. In the absence of ultrasound or hCG assessment, heavy vaginal bleeding may lead to a misdiagnosis of miscarriage. Nausea, vomiting and diarrhea are more rare symptoms of ectopic pregnancy.
Rupture of an ectopic pregnancy can lead to symptoms such as abdominal distension, tenderness, peritonism and hypovolemic shock. A woman with ectopic pregnancy may be excessively mobile with upright posturing, in order to decrease intrapelvic blood flow, which can lead to swelling of the abdominal cavity and cause additional pain.
A bicornuate uterus or bicornate uterus (from the Latin "cornū", meaning "horn"), commonly referred to as a "heart-shaped" uterus, is a uterus composed of two "horns" separated by a septum. In humans, a bicornuate uterus is a type of uterine malformation, but in some other mammalian species, including rodents and pigs, it is normal.
The arcuate uterus is a form of a uterine anomaly or variation where the uterine cavity displays a concave contour towards the fundus. Normally the uterine cavity is straight or convex towards the fundus on anterior-posterior imaging, but in the arcuate uterus the myometrium of the fundus dips into the cavity and may form a small septation. The distinction between an arcuate uterus and a septate uterus is not standardized.
Placental site trophoblastic tumor is a form of gestational trophoblastic disease, which is thought to arise from intermediate trophoblast.
It may secrete human placental lactogen (human chorionic somatomammotropin), and result in a false-positive pregnancy test.
Placental site trophoblastic tumor is a monophasic neoplasm of the implantation site intermediate trophoblast, and usually a benign lesion, which comprises less than 2% of all gestational trophoblastic proliferations. Preceding conditions include molar pregnancy (5%). Compared to choriocarcinoma or invasive mole, hemorrhage is less conspicuous and serum β-HCG level is low, making early diagnosis difficult.
Immunohistochemistry: Often stains with hPL, keratin, Mel-CAM, EGFR.
Prognosis: 10–20% of cases metastase leading to death.
Treatment: Because chemotherapy is ineffective; the patient should undergo hysterectomy.
Endometrioma is the presences of endometrial tissue in and sometimes on the ovary. More broadly, endometriosis is the presence of endometrial tissue located outside the uterus. The presence of endometriosis can result in the formation of scar tissue, adhesions and an inflammatory reaction. It is a benign growth. An endometrioma is most often found in the ovary. It can also develop in the cul-de-sac (space be hind the uterus), the surface of the uterus, and between the vagina and rectum.
Women with the condition may be asymptomatic and unaware of having a uniconuate uterus; normal pregnancy may occur. In a review of the literature Reichman et al. analyzed the data on pregnancy outcome of 290 women with a unicornuate uterus. 175 women had conceived for a total of 468 pregnancies. They found that about 50% of patients delivered a live baby. The rates for ectopic pregnancy was 2.7%, for miscarriage 34%, and for preterm delivery 20%, while the intrauterine demise rate was 10%. Thus patients with a unicornuate uterus are at a higher risk for pregnancy loss and obstetrical complications.
Trophoblastic neoplasms are neoplasms which derive from trophoblastic tissue.
Examples include:
- choriocarcinoma
- hydatidiform mole
An adnexal mass is a lump in tissue of the adnexa of uterus (structures closely related structurally and functionally to the uterus such as the ovaries, fallopian tubes, or any of the surrounding connective tissue). Adnexal masses can be benign or cancerous, and they can be categorized as simple or complex. One of the most important factors used to determine the clinical suspicion of malignancy of an adnexal mass is the sonographic appearance of the mass. Indications that the mass is at a higher risk of being malignant include: presence of loculations, nodules, papillary structures, septations, size greater than 10 cm.
In premenopausal women, adnexal masses include ovarian cysts, ectopic (tubal) pregnancies, benign (noncancerous) or malignant (cancerous) tumors, endometriomas, polycystic ovaries, and tubo-ovarian abscess. In females of reproductive age, adnexal masses can be physiologic or complex masses. Most common causes for adnexal masses in premenopausal women are follicular cysts and corpus luteum cysts. Abscesses can form as a complication of pelvic inflammatory disease.
Other masses include endometriomas, polycystic ovaries, and benign neoplasms.
In postmenopausal women, adnexal masses may be caused by cancer, fibroids, fibromas, diverticular abscess.
Choriocarcinoma is a malignant, trophoblastic cancer, usually of the placenta. It is characterized by "early hematogenous spread" to the lungs. It belongs to the malignant end of the spectrum in gestational trophoblastic disease (GTD). It is also classified as a germ cell tumor and may arise in the testis or ovary.
A uterine malformation is a type of female genital malformation resulting from an abnormal development of the Müllerian duct(s) during embryogenesis. Symptoms range from amenorrhea, infertility, recurrent pregnancy loss, and pain, to normal functioning depending on the nature of the defect.
Pain and infertility are common symptoms, although 20-25% of women are asymptomatic.
Choriocarcinoma of the placenta during pregnancy is preceded by:
- hydatidiform mole (50% of cases)
- spontaneous abortion (20% of cases)
- ectopic pregnancy (2% of cases)
- normal term pregnancy (20–30% of cases)
- hyperemesis gravidarum
Rarely, choriocarcinoma occurs in primary locations other than the placenta; very rarely, it occurs in testicles. Although trophoblastic components are common components of mixed germ cell tumors, pure choriocarcinoma of the adult testis is rare. Pure choriocarcinoma of the testis represents the most aggressive pathologic variant of germ cell tumors in adults, characteristically with early hematogenous and lymphatic metastatic spread. Because of early spread and inherent resistance to anticancer drugs, patients have poor prognosis. Elements of choriocarcinoma in a mixed testicular tumor have no prognostic importance.
Choriocarcinomas can also occur in the ovaries.
It is possible to diagnose a bicornuate uterus using gynecologic ultrasonography, specifically sonohysterography, and MRI. However, as there is no indication to do such procedures on asymptomatic women, the presence of a bicornuate uterus may not be detected until pregnancy or delivery.
In a C-section (usually done due to malpresentation), the irregular shape of the uterus will be apparent.
Other less reliable diagnostic imaging methods include hysterosalpingography and hysteroscopy; these procedures are typically done during the course of an infertility investigation.
Uterus didelphys (sometimes also "uterus didelphis") represents a uterine malformation where the uterus is present as a paired organ when the embryogenetic fusion of the Müllerian ducts fails to occur. As a result, there is a double uterus with two separate cervices, and rarely a double vagina as well. Each uterus has a single horn linked to the ipsilateral fallopian tube that faces its ovary.
In non human species ("e.g." nematodes), a didelphic genital tract may be normal rather than a malformation. Such species are described as didelphic, as opposed to monodelphic, with a single tract.