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A health history and a physical examination can lead the health care practitioner to suspect endometriosis. Although doctors can often feel the endometrial growths during a pelvic exam, and these symptoms may be signs of endometriosis, diagnosis cannot be confirmed by exam only. Use of pelvic ultrasound may identify large endometriotic cysts (called endometriomas). However, smaller endometriosis implants cannot be visualized with ultrasound technique.
An area of research is the search for endometriosis markers.
In 2010 essentially all proposed biomarkers for endometriosis were of unclear medical use, although some appear to be promising. The one biomarker that has been in use over the last 20 years is CA-125. A 2016 review found that in those with symptoms of endometriosis and once ovarian cancer has been ruled out, a positive CA-125 may confirm the diagnosis. Its performance in ruling out endometriosis; however, is low. CA-125 levels appear to fall during endometriosis treatment, but has not shown a correlation with disease response.
Another review in 2011 identified several putative biomarkers upon biopsy, including findings of small sensory nerve fibers or defectively expressed β3 integrin subunit. It has been postulated a future diagnostic tool for endometriosis will consist of a panel of several specific and sensitive biomarkers, including both substance concentrations and genetic predisposition.
Adenomyosis can vary widely in the extent and location of its invasion within the uterus. As a result, there are no established pathognomonic features to allow for a definitive diagnosis of adenomyosis through non-invasive imaging. Nevertheless, non-invasive imaging techniques such as transvaginal ultrasonography (TVUS) and magnetic resonance imaging (MRI) can both be used to strongly suggest the diagnosis of adenomyosis, guide treatment options, and monitor response to treatment. Indeed, TVUS and MRI are the only two practical means available to establish a pre-surgical diagnosis.
The history of a pregnancy event followed by a D&C leading to secondary amenorrhea or hypomenorrhea is typical. Hysteroscopy is the gold standard for diagnosis. Imaging by sonohysterography or hysterosalpingography will reveal the extent of the scar formation. Ultrasound is not a reliable method of diagnosing Asherman's Syndrome. Hormone studies show normal levels consistent with reproductive function.
A 2013 review concluded that there were no studies reporting on the link between intrauterine adhesions and long-term reproductive outcome after miscarriage, while similar pregnancy outcomes were reported subsequent to surgical management (e.g. D&C), medical management or conservative management (that is, watchful waiting). There is an association between surgical intervention in the uterus and the development of intrauterine adhesions, and between intrauterine adhesions and pregnancy outcomes, but there is still no clear evidence of any method of prevention of adverse pregnancy outcomes.
In theory, the recently pregnant uterus is particularly soft under the influence of hormones and hence, easily injured. D&C (including dilation and curettage, dilation and evacuation/suction curettage and manual vacuum aspiration) is a blind, invasive procedure, making it difficult to avoid endometrial trauma. Medical alternatives to D&C for evacuation of retained placenta/products of conception exist including misoprostol and mifepristone. Studies show this less invasive and cheaper method to be an efficacious, safe and an acceptable alternative to surgical management for most women. It was suggested as early as in 1993 that the incidence of IUA might be lower following medical evacuation (e.g. Misoprostol) of the uterus, thus avoiding any intrauterine instrumentation. So far, one study supports this proposal, showing that women who were treated for missed miscarriage with misoprostol did not develop IUA, while 7.7% of those undergoing D&C did. The advantage of misoprostol is that it can be used for evacuation not only following miscarriage, but also following birth for retained placenta or hemorrhaging.
Alternatively, D&C could be performed under ultrasound guidance rather than as a blind procedure. This would enable the surgeon to end scraping the lining when all retained tissue has been removed, avoiding injury.
Early monitoring during pregnancy to identify miscarriage can prevent the development of, or as the case may be, the recurrence of AS, as the longer the period after fetal death following D&C, the more likely adhesions may be to occur. Therefore, immediate evacuation following fetal death may prevent IUA.
The use of hysteroscopic surgery instead of D&C to remove retained products of conception or placenta is another alternative that could theoretically improve future pregnancy outcomes, although it could be less effective if tissue is abundant. Also, hysteroscopy is not a widely or routinely used technique and requires expertise.
There is no data to indicate that suction D&C is less likely than sharp curette to result in Asherman's. A recent article describes three cases of women who developed intrauterine adhesions following manual vacuum aspiration.
While a full testing of tubal functions in patients with infertility is not possible, testing of tubal patency is feasible. A hysterosalpingogram will demonstrate that tubes are open when the radioopaque dye spills into the abdominal cavity. Sonography can demonstrate tubal abnormalities such as a hydrosalpinx indicative of tubal occlusion. During surgery, typically laparoscopy, the status of the tubes can be inspected and a dye such as methylene blue can be injected in a process termed chromotubation into the uterus and shown to pass through the tubes when the cervix is occluded. Laparoscopic chromotubation has been described as the gold standard of tubal evaluation. As tubal disease is often related to Chlamydia infection, testing for Chlamydia antibodies has become a cost-effective screening device for tubal pathology.
Tubal insufflation is only of historical interest as an older office method to indicate patency; it was used prior to laparoscopic evaluation of pelvic organs.
Magnetic resonance imaging (MRI) provides slightly better diagnostic capability compared to TVUS, due to the increased ability of MRI to differentiate objectively between different types of soft tissue. This is possible with MRI's higher spatial and contrast resolution. Overall, it is estimated that MRI has a sensitivity of 74% and specificity of 91% for the detection of adenomyosis. Diagnosis through MRI focuses predominately upon investigating the junctional zone. The uterus will have a thickened junctional zone with darker/diminished signal on both T1 and T2 weighted sequences.
Three objective measures of the junctional zone can be used to diagnose adenomyosis.
1. A thickness of the junctional zone greater than 8–12 mm. Less than 8 mm is normal.
2. A junctional zone width being greater than 40% of the width of the myometrium.
3. Variability in the width of the junctional zone being greater than 5 mm.
Interspersed within the thickened, darker signal of the junctional zone, one will often see foci of hyperintensity (bright spots) on the T2 weighted scans representing small cystically dilatated glands or more acute sites of microhemorrhage.
MRI is limited by other factors, but not by calcified uterine fibroids (as is ultrasound). In particular, MRI is better able to differentiate adenomyosis from multiple small uterine fibroids.
Hydrosalpinx may be diagnosed using ultrasonography as the fluid filled elongated and distended tubes display their typical echolucent pattern. However, a small hydrosalpinx may be missed by sonography. During an infertility work-up a hysterosalpingogram (HSG), an X-ray procedure that uses a contrast agent to image the fallopian tubes, shows the retort-like shape of the distended tubes and the absence of spillage of the dye into the peritoneum. If, however, there is a tubal occlusion at the utero-tubal junction, a hydrosalpinx may go undetected. When a hydrosalpinx is detected by an HSG it is prudent to administer antibiotics to reduce the risk of reactivation of an inflammatory process.
When laparoscopy is performed, the surgeon may note the distended tubes, identify the occlusion, and may also find associated adhesions affecting the pelvic organs. Laparoscopy not only allows for the diagnosis of hydrosalpinx, but also presents a platform for intervention (see management).
The diagnosis is made in asymptomatic pregnant women by obstetric ultrasonography. On pelvic examination a unilateral adnexal mass may be found. Typical symptoms are abdominal pain and, to a lesser degree, vaginal bleeding during pregnancy. Patients may present with hypovolemia or be in circulatory shock because of internal bleeding.
Ideally, ultrasound will show the location of the gestational sac in the ovary, while the uterine cavity is "empty", and if there is internal bleeding, it can be identified. Because of the proximity of the tube, the sonographic distinction between a tubal and an ovarian pregnancy may be difficult. Serial hCG levels generally show not the normal progressive rise.
In a series of 12 patients the mean gestation age was 45 days.
Histologically, the diagnosis has been made by Spiegelberg criteria on the surgical specimen of the removed ovary and tube. However, the tube and ovary are not usually removed as sonography allows for earlier diagnosis and surgeons strive to preserve the ovary. Prior to the introduction of Spiegelberg's criteria in 1878, the existence of ovarian pregnancy was in doubt; his criteria helped to identify the ovarian pregnancy from other ectopics:
- The gestational sac is located in the region of the ovary.
- The gestational sac is attached to the uterus by the ovarian ligament.
- Ovarian tissue is histologically proven in the wall of the gestational sac.
- The oviduct on the affected side is intact (this criterion, however, holds not true for a longer ongoing ovarian pregnancy).
An ovarian pregnancy can be mistaken for a tubal pregnancy or a hemorrhagic ovarian cyst or corpus luteum prior to surgery. Sometimes, only the presence of trophoblastic tissue during the histologic examination of material of a bleeding ovarian cyst shows that an ovarian pregnancy was the cause of the bleeding.
As pelvic inflammatory disease is the major cause of hydrosalpinx formation, steps to reduce sexually transmitted disease will reduce incidence of hydrosalpinx. Also, as hydrosalpinx is a sequel to a pelvic infection, adequate and early antibiotic treatment of a pelvic infection is called for.
In vitro fertilisation is a process by which an egg is fertilised by sperm outside the body: "in vitro". IVF is a major treatment for infertility when other methods of assisted reproductive technology have failed. The process involves monitoring a woman's ovulatory process, removing ovum or ova (egg or eggs) from the woman's ovaries and letting sperm fertilise them in a fluid medium in a laboratory. When a woman's natural cycle is monitored to collect a naturally selected ovum (egg) for fertilisation, it is known as natural cycle IVF. The fertilised egg (zygote) is then transferred to the patient's uterus with the intention of establishing a successful pregnancy.
While IVF therapy has largely replaced tubal surgery in the treatment of infertility, the presence of hydrosalpinx is a detriment to IVF success. It has been recommended that prior to IVF, laparoscopic surgery should be done to either block or remove hydrosalpinges.
A widely recognised method of estimating the risk of malignant ovarian cancer based on initial workup is the "risk of malignancy index" (RMI). It is recommended that women with an RMI score over 200 should be referred to a centre with experience in ovarian cancer surgery.
The RMI is calculated as follows:
There are two methods to determine the ultrasound score and menopausal score, with the resultant RMI being called RMI 1 and RMI 2, respectively, depending on what method is used:
An RMI 2 of over 200 has been estimated to have a sensitivity of 74 to 80%, a specificity of 89 to 92% and a positive predictive value of around 80% of ovarian cancer. RMI 2 is regarded as more sensitive than RMI 1.
Follow-up imaging in women of reproductive age for incidentally discovered simple cysts on ultrasound is not needed until 5 cm, as these are usually normal ovarian follicles. Simple cysts 5 to 7 cm in premenopausal females should be followed yearly. Simple cysts larger than 7 cm require further imaging with MRI or surgical assessment. Because they are large, they cannot be reliably assessed by ultrasound alone because it may be difficult to see the soft tissue nodularity or thickened septation at their posterior wall due to limited penetrance of the ultrasound beam. For the corpus luteum, a dominant ovulating follicle that typically appears as a cyst with circumferentially thickened walls and crenulated inner margins, follow up is not needed if the cyst is less than 3 cm in diameter. In postmenopausal patients, any simple cyst greater than 1 cm but less than 7 cm needs yearly follow-up, while those greater than 7 cm need MRI or surgical evaluation, similar to reproductive age females.
For incidentally discovered dermoids, diagnosed on ultrasound by their pathognomonic echogenic fat, either surgical removal or yearly follow up is indicated, regardless of patient age. For peritoneal inclusion cysts, which have a crumpled tissue-paper appearance and tend to follow the contour of adjacent organs, follow up is based on clinical history. Hydrosalpinx, or fallopian tube dilation, can be mistaken for an ovarian cyst due to its anechoic appearance. Follow-up for this is also based on clinical presentation.
For multiloculate cysts with thin septation less than 3 mm, surgical evaluation is recommended. The presence of multiloculation suggests a neoplasm, although the thin septation implies that the neoplasm is benign. For any thickened septation, nodularity, or vascular flow on color doppler assessment, surgical removal should be considered due to concern for malignancy.
Ovarian pregnancies are dangerous and prone to internal bleeding. Thus, when suspected, intervention is called for.
Traditionally, an explorative laparotomy was performed, and once the ovarian pregnancy was identified, an oophorectomy or salpingo-oophorectomy was performed, including the removal of the pregnancy. Today, the surgery can often be performed via laparoscopy. The extent of surgery varies according to the amount of tissue destruction that has
occurred. Patients with an ovarian pregnancy have a good prognosis for future fertility and therefore conservative surgical management is advocated. Further, in attempts to preserve ovarian tissue, surgery may involve just the removal of the pregnancy with only a part of the ovary. This can be accomplished by an ovarian wedge resection.
Ovarian pregnancies have been successfully treated with methotrexate since it was introduced in the management of ectopic pregnancy in 1988.
An ovarian pregnancy can develop together with a normal intrauterine pregnancy; such a heterotopic pregnancy will call for expert management as not to endanger the intrauterine pregnancy.
Surgical exploration and of possible ovarian tissue is required for the definitive diagnosis of ORS, and treatment by excision of the remnant ovarian tissue may be performed during the same procedure. For women who are not candidates for surgery, a clinical diagnosis can be made based on the symptoms and levels (follicle-stimulating hormone and estradiol, after bilateral oophorectomy) and/or findings consistent with the presence of residual ovarian tissue. Laparoscopy and histological assessment can aid in diagnosis.
The risk of ovarian remnant (ORS) is increased by incomplete removal of the ovarian at the time of oophorectomy. Surgical factors that contribute to incomplete removal include those that limit surgical exposure of the ovary, or compromise surgical technique. Factors may include:
- adhesions – these can limit visualization of the ovary and may also cause it to adhere to surrounding tissues. Adhesions are often present due to preexisting conditions and/or prior surgeries. In the majority of cases reported since 2007, endometriosis was the most common indication for the initial oophorectomy in patients who subsequently had ORS. Endometriosis increases the risk for functional ovarian tissue being embedded into adjacent structures, making complete excision of tissue challenging.
- Anatomic variations - unusual location of ovarian tissue, for example
- Intraoperative bleeding
- Poor surgical technique – this may include failure to obtain adequate exposure or restore adequate anatomy, or imprecise choice of incision site
Ovarian remnant (ORS) may first be considered in women who have undergone oophorectomy and have suggestive symptoms, the presence of a mass, or evidence of persistent ovarian function (by symptoms or laboratory testing). A history of oophorectomy is required, by definition, to make the diagnosis. Notes regarding the indication for the procedure and the procedure itself should be reviewed and may include prior abdominal or pelvic surgery, endometriosis, and/or poor surgical visualization. If ORS is possible, pelvic should be performed to evaluate for a pelvic mass.[1]
Gynecologic ultrasonography is the imaging modality of choice. Use of doppler ultrasound in the diagnosis has been suggested. However, doppler flow is not always absent in torsion – the definitive diagnosis is often made in the operating room.
Lack of ovarian blood flow on doppler sonography seems to be a good predictor of ovarian torsion. Women with pathologically low flow are more likely to have OT (77% vs. 29% in a study). The sensitivity and specificity of abnormal ovarian flow for OT are 44% and 92%, respectively, with a positive and negative predictive value of 78% and 71%, respectively. Specific flow features on Doppler sonography include:
- Little or no intra-ovarian venous flow. This is commonly seen in ovarian torsion.
- Absent arterial flow. This is a less common finding in ovarian torsion
- Absent or reversed diastolic flow
Normal vascularity does not exclude intermittent torsion. There may occasionally be normal Doppler flow because of the ovary's dual blood supply from both the ovarian arteries and uterine arteries.
Other ultrasonographic features include:
- Enlarged hypoechogenic or hyperechogenic ovary
- Peripherally displaced ovarian follicles
- Free pelvic fluid. This may be seen in more than 80% of cases
- "Whirlpool sign" of twisted vascular pedicle
- Underlying ovarian lesion can often be found
- Uterus may be slightly deviated towards the torted ovary.
Ovarian torsion is difficult to diagnose accurately, and operation is often performed before certain diagnosis is made. A study at an obstetrics and gynaecology department found that preoperative diagnosis of ovarian torsion was confirmed in only 46% of people.
Generally gynecologic hemorrhage does not arise out of nowhere. Regular gynecologic examinations, cancer screening, and contraceptive measures go a long way in preventing and forestalling unsuspected acute bleeding events.
The diagnosis of thoracic endometriosis is primarily based on clinical history and examination, augmented with non-invasive studies such as X-ray, CT scan, and magnetic resonance imaging of the chest. Pelvic ultrasound is also useful to determine if the patient has any degree of pelvic or abdominal endometriosis (indicated by the presence of free fluid).
More invasive methods for obtaining a tissue diagnosis of thoracic endometriosis include video thoracoscopy (for pleural or pulmonary biopsy), or bronchoscopy (for pulmonary or bronchial biopsy, or bronchial lavage). A case series has been reported in which clinical diagnosis was made in 50% of patients, the rest being diagnosed either via biopsy (25%) or bronchoalveolar lavage (25%). (25%)
A pelvic examination will typically reveal a single vagina and a single cervix. Investigations are usually prompted on the basis of reproductive problems.
Helpful techniques to investigate the uterine structure are transvaginal ultrasonography and sonohysterography, hysterosalpingography, MRI, and hysteroscopy. More recently 3-D ultrasonography has been advocated as an excellent non-invasive method to evaluate uterine malformations.
A unicornuate uterus may be associated with a rudimentary horn on the opposite site. This horn may be communicating with the uterus, and linked to the ispilateral tube. Occasionally a pregnancy may implant into such a horn setting up a dangerous situation as such pregnancy can lead to a potentially fatal uterine rupture. Surgical resection of the horn is indicated.
A laparoscopy or laparotomy can also be performed to visually confirm an ectopic pregnancy. This is generally reserved for women presenting with signs of an acute abdomen and/or hypovolemic shock. Often if a tubal abortion or tubal rupture has occurred, it is difficult to find the pregnancy tissue. A laparoscopy in very early ectopic pregnancy rarely shows a normal looking fallopian tube.
Culdocentesis, in which fluid is retrieved from the space separating the vagina and rectum, is a less commonly performed test that may be used to look for internal bleeding. In this test, a needle is inserted into the space at the very top of the vagina, behind the uterus and in front of the rectum. Any blood or fluid found may have been derived from a ruptured ectopic pregnancy.
Progesterone levels of less than 20 nmol/l have a high predictive value for failing pregnancies, whilst levels over 25 nmol/l are likely to predict viable pregnancies, and levels over 60 nmol/l are strongly so. This may help in identifying failing PULs that are at low risk and thereby needing less follow-up. Inhibin A may also be useful for predicting spontaneous resolution of PUL, but is not as good as progesterone for this purpose.
In addition, there are various mathematical models, such as logistic regression models and Bayesian networks, for the prediction of PUL outcome based on multiple parameters. Mathematical models also aim to identify PULs that are "low risk", that is, failing PULs and IUPs.
Dilation and curettage is sometimes used to diagnose pregnancy location with the aim of differentiating between an EP and a non-viable IUP in situations where a viable IUP can be ruled out. Specific indications for this procedure include either of the following:
- no visible IUP on transvaginal ultrasonography with a serum hCG of more than 2000 IU/ml
- an abnormal rise in hCG level. A rise of 35% over 48 hours is proposed as the minimal rise consistent with a viable intrauterine pregnancy.
- an abnormal fall in hCG level, such as defined as one of less than 20% in 2 days
A history will establish if the condition is acute or chronic, and if external circumstances are involved. A gynecologic examination is usually complemented by a gynecologic ultrasonography. A blood count determines the degree of anemia and may point out bleeding problems. The pregnancy test is important, particularly as bleeding in early pregnancy presents as gynecological hemorrhage and ectopic pregnancy can be fatal.
Diagnosis is broadly classified into supportive and definitive investigations:
The cause of the bleeding can often be discerned on the basis of the bleeding history, physical examination, and other medical tests as appropriate. The physical examination for evaluating vaginal bleeding typically includes visualization of the cervix with a speculum, a bimanual exam, and a rectovaginal exam. These are focused on finding the source of the bleeding and looking for any abnormalities that could cause bleeding. In addition, the abdomen is examined and palpated to ascertain if the bleeding is abdominal in origin. Typically a pregnancy test is performed as well. If bleeding was excessive or prolonged, a CBC may be useful to check for anemia. Abnormal endometrium may have to be investigated by a hysteroscopy with a biopsy or a dilation and curettage.
In an emergency or acute setting, vaginal bleeding can lead to hypovolemia.
The treatment will be directed at the cause. Hormonal bleeding problems during the reproductive years, if bothersome to the woman, are frequently managed by use of combined oral contraceptive pills.