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Foetal demise occurs if the circulating blood volume is decreased significantly. The critical factor deciding the prognosis is the site of the hematoma and not the volume. If discovered antinatally, serial USG and/or Doppler scans is indicated to monitor the size of the hematoma and well-being of the foetus.
Clinically, Breus' mole may be asymptomatic, or may present with signs of decreased blood flow to the foetus such as growth restriction and foetal distress. Postnatally, Breus' mole is found in placental examination following live birth or spontaneous abortion. Breus' mole is diagnosed antinatally by ultrasound, where a thick multilobulated hematoma can be seen beneath the chorion. Occasionally, subchorial thrombohematoma may later become intraplacental, making its diagnosis difficult. The mole may be echogenic or hypoechoic depending upon the amount of fresh blood present in it. Breus' mole should be differentiated from vesicular mole and missed abortion in an ultrasound examination.
If a small amount of bleeding is seen in early pregnancy a physician may request:
- A quantitative human chorionic gonadotropin (hCG) blood test to confirm the pregnancy or assist in diagnosing a potential miscarriage
- Transvaginal pelvic ultrasonography to confirm that the pregnancy is not outside of the uterus
- Blood type and Rh test to rule out hemolytic disease of the newborn
For bleeding seen in later pregnancy tests may include:
- Complete blood count (CBC) and blood type and screen
- Ultrasound to determine placental location
- Kleihauer-Betke (KB) test especially if there was maternal trauma
Pregnant patients may have bleeding from the reproductive tract due to trauma, including sexual trauma, neoplasm, most commonly cervical cancer, and hematologic disorders. Molar pregnancy (also called hydatiform mole) is a type of pregnancy where the sperm and the egg have joined within the uterus, but the result is a cyst resembling a grape-like cluster rather than an embryo. Bleeding can be an early sign of this tumor developing.
Most women with GTD can become pregnant again and can have children again. The risk of a further molar pregnancy is low. More than 98% of women who become pregnant following a molar pregnancy will not have a further hydatidiform mole or be at increased risk of complications.
In the past, it was seen as important not to get pregnant straight away after a GTD. Specialists recommended a waiting period of 6 months after the hCG levels become normal. Recently, this standpoint has been questioned. New medical data suggest that a significantly shorter waiting period after the hCG levels become normal is reasonable for approximately 97% of the patients with hydatidiform mole.
Cases of GTD can be diagnosed through routine tests given during pregnancy, such as blood tests and ultrasound, or through tests done after miscarriage or abortion. Vaginal bleeding, enlarged uterus, pelvic pain or discomfort, and vomiting too much (hyperemesis) are the most common symptoms of GTD. But GTD also leads to elevated serum hCG (human chorionic gonadotropin hormone). Since pregnancy is by far the most common cause of elevated serum hCG, clinicians generally first suspect a pregnancy with a complication. However, in GTD, the beta subunit of hCG (beta hCG) is also always elevated. Therefore, if GTD is clinically suspected, serum beta hCG is also measured.
The initial clinical diagnosis of GTD should be confirmed histologically, which can be done after the evacuation of pregnancy (see «Treatment» below) in women with hydatidiform mole. However, malignant GTD is highly vascular. If malignant GTD is suspected clinically, biopsy is contraindicated, because biopsy may cause life-threatening haemorrhage.
Women with persistent abnormal vaginal bleeding after any pregnancy, and women developing acute respiratory or neurological symptoms after any pregnancy, should also undergo hCG testing, because these may be signs of a hitherto undiagnosed GTD.
The diagnosis is strongly suggested by ultrasound (sonogram), but definitive diagnosis requires histopathological examination. On ultrasound, the mole resembles a bunch of grapes ("cluster of grapes" or "honeycombed uterus" or "snow-storm"). There is increased trophoblast proliferation and enlarging of the chorionic villi. Angiogenesis in the trophoblasts is impaired as well.
Sometimes symptoms of hyperthyroidism are seen, due to the extremely high levels of hCG, which can mimic the normal Thyroid-stimulating hormone (TSH).
Hydatidiform moles should be treated by evacuating the uterus by uterine suction or by surgical curettage as soon as possible after diagnosis, in order to avoid the risks of choriocarcinoma. Patients are followed up until their serum human chorionic gonadotrophin (hCG) level has fallen to an undetectable level. Invasive or metastatic moles (cancer) may require chemotherapy and often respond well to methotrexate. As they contain paternal antigens, the response to treatment is nearly 100%. Patients are advised not to conceive for half a year after hCG levels have normalized. The chances of having another molar pregnancy are approximately 1%.
Management is more complicated when the mole occurs together with one or more normal fetuses.
Convulsions during pregnancy that are unrelated to pre-eclampsia need to be distinguished from eclampsia. Such disorders include seizure disorders as well as brain tumor, aneurysm of the brain, and medication- or drug-related seizures. Usually the presence of the signs of severe pre-eclampsia precede and accompany eclampsia, facilitating the diagnosis.
Another core feature of pre-eclampsia is proteinuria, which is the presence of excess protein in the urine. To determine if proteinuria is present, the urine can be collected and tested for protein; if there is 0.3 grams of protein or more in the urine of a pregnant woman collected over 24 hours, this is one of the diagnostic criteria for pre-eclampsia and raises the suspicion that a seizure is due to eclampsia.
In cases of severe eclampsia or pre-eclampsia, the level of platelets in the blood can be low in a condition termed thrombocytopenia. A complete blood count, or CBC, is a test of the blood that can be performed to check platelet levels.
Other investigations include: renal function test (RFT), liver function tests (LFT), coagulation screen, 24-hour urine creatinine, and fetal/placental ultrasound.
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.
Trophoblastic neoplasms derive from trophoblastic tissue. Examples include:
- Choriocarcinoma
- Hydatidiform mole
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.
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.
Clinical diagnosis can be made with the naked eye using the ABCD guideline or by using dermatoscopy. An online-screening test is also available to help screen out benign moles.
It often requires a dermatologist to fully evaluate moles. For instance, a small blue or bluish-black spot, often called a blue nevus, is usually benign but often mistaken for melanoma. Conversely, a junctional nevus, which develops at the junction of the dermis and epidermis, is potentially cancerous.
A basic reference chart used for consumers to spot suspicious moles is found in the mnemonic A-B-C-D, used by institutions such as the American Academy of Dermatology and the National Cancer Institute. The letters stand for asymmetry, border, color, and diameter. Sometimes, the letter E (for elevation or evolving) is added. According to the American Academy of Dermatology, if a mole starts changing in size, color, shape or, especially, if the border of a mole develops ragged edges or becomes larger than a pencil eraser, it would be an appropriate time to consult with a physician. Other warning signs include a mole, even if smaller than a pencil eraser, that is different from the others and begins to crust over, bleed, itch, or become inflamed. The changes may indicate developing melanomas. The matter can become clinically complicated because mole removal depends on which types of cancer, if any, come into suspicion.
A recent and novel method of melanoma detection is the "ugly duckling sign" It is simple, easy to teach, and highly effective in detecting melanoma. Simply, correlation of common characteristics of a person's skin lesion is made. Lesions which greatly deviate from the common characteristics are labeled as an "ugly duckling", and further professional exam is required. The "little red riding hood sign", suggests that individuals with fair skin and light colored hair might have difficult-to-diagnose melanomas. Extra care and caution should be rendered when examining such individuals as they might have multiple melanomas and severely dysplastic nevi. A dermatoscope must be used to detect "ugly ducklings", as many melanomas in these individuals resemble non-melanomas or are considered to be "wolves in sheep clothing". These fair skinned individuals often have lightly pigmented or amelanotic melanomas which will not present easy-to-observe color changes and variation in colors. The borders of these amelanotic melanomas are often indistinct, making visual identification without a dermatoscope very difficult.
People with a personal or family history of skin cancer or of dysplastic nevus syndrome (multiple atypical moles) should see a dermatologist at least once a year to be sure they are not developing melanoma.
Since gestational choriocarcinoma (which arises from a hydatidiform mole) contains paternal DNA (and thus paternal antigens), it is exquisitely sensitive to chemotherapy. The cure rate, even for metastatic gestational choriocarcinoma, is around 90–95%.
At present, treatment with single-agent methotrexate is recommended for low-risk disease, while intense combination regimens including EMACO (etoposide, methotrexate, actinomycin D, cyclosphosphamide and vincristine (Oncovin) are recommended for intermediate or high-risk disease.
Hysterectomy (surgical removal of the uterus) can also be offered to patients > 40 years of age or those for whom sterilisation is not an obstacle. It may be required for those with severe infection and uncontrolled bleeding.
Choriocarcinoma arising in the testicle is rare, malignant and highly resistant to chemotherapy. The same is true of choriocarcinoma arising in the ovary. Testicular choriocarcinoma has the worst prognosis of all germ-cell cancers.
As halo nevi are only of cosmetic significance, no treatment is required, and patients will be asymptomatic. Although halo nevi are harmless, it is important to monitor the lesion on regular basis. Watch out for any changes in appearance of existing or new halo nevi. If there is any change in appearance or is associated with pain, itch, and infection, a doctor should be consulted immediately to exclude the possibility of melanoma.
Large and especially giant congenital nevi are at higher risk for malignancy degeneration into melanoma. Because of the premalignant potential, it is an acceptable clinical practice to remove congenital nevi electively in all patients and relieve the nevocytic overload.
Most birthmarks are harmless and do not require treatment. Pigmented marks can resolve on their own over time in some cases. Vascular birthmarks may require reduction or removal for cosmetic reasons. Treatments include administering oral or injected steroids, dermatological lasers to reduce size and/or color, or dermatologic surgery.
Surgical excision is the standard of care. Some individuals advocate the use of hair removal laser for the treatment of congenital nevi. While this is likely safe and effective for small congenital nevus, laser removal for larger lesions might pose a liability for the laser surgeon if malignancy developed from a deep (dermal) component of the nevus that is not reached by the laser. Repigmentation after laser treatment of congenital nevi or superficial curettage supports this concern.
Many are surgically removed for aesthetics and relief of psychosocial burden, but larger ones are also excised for prevention of cancer, although the benefit is impossible to assess for any individual patient. Proliferative nodules are usually biopsied and are regularly but not systematically found to be benign. Estimates of transformation into melanoma vary from 2-42% in the literature, but are most commonly considered to be at the low end of that spectrum due to early observer bias.
Diagnosis of TNDM and PNDM
The diagnostic evaluations are based upon current literature and research available on NDM. The following evaluation factors are: patients with TNDM are more likely to have intrauterine growth retardation and less likely to develop ketoacidosis than patients with PNDM. TNDM patients are younger at the age of diagnosis of diabetes and have lower insulin requirements, an overlap occurs between the two groups, therefore TNDM cannot be distinguished from PNDM based clinical feature. An early onset of diabetes mellitus is unrelated to autoimmunity in most cases, relapse of diabetes is common with TNDM, and extensive follow ups are important. In addition, molecular analysis of chromosomes 6 defects, KCNJ11 and ABCC8 genes (encoding Kir6.2 and SUR1) provide a way to identify PNDM in the infant stages. Approximately,50% of PNDM are associated with the potassium channel defects which are essential consequences when changing patients from insulin therapy to sulfonylureas.
TNDM Diagnosis associated with Chromosome 6q24 Mutations
The uniparental disomy of the chromosome can be used as diagnostic method provide proof by the analysis of polymorphic markers is present on Chromosome 6. Meiotic segregation of the chromosome can be distinguished by comparing allele profiles of polymorphic makers in the child to the child's parents' genome. Normally, a total uniparental disomy of the chromosome 6 is evidenced, but partial one can be identified. Therefore, genetic markers that are close to the region of interest in chromosome 6q24 can be selected. Chromosome duplication can found by that technique also.
Medical Professionals of NDM
- Physician
- Endocrinologist
- Geneticist Counselor
Diagnostic Test of NDM
- "Fasting plasma glucose test": measures an diabetic's blood glucose after he or she has gone 8 hours without eat. This test is used to detect diabetes or pre-diabetes
- "Oral glucose tolerance test"- measures an individual's blood glucose after he or she have gone at least 8 hours without eating and two hours after the diabetic individual have drunk a glucose-containing beverage. This test can be used to diagnose diabetes or pre-diabetes
- "Random plasma glucose test"-the doctor checks one's blood glucose without regard to when an individual may have ate his or her last meal. This test, along with an evaluation of symptoms, are used to diagnose diabetes but not pre-diabetes.
Genetic Testing of NDM
- "Uniparental Disomy Test:"
Samples from fetus or child and both parents are needed for analysis. Chromosome of interest must be specified on request form. For prenatal samples (only): if the amniotic fluid (non-confluent culture cells) are provided. Amniotic fluid is added and charged separately. Also, if chorionic villus sample is provided, a genetic test will be added and charged separately. Microsatellites markers and polymerase chain reaction are used on the chromosomes of interest to test the DNA of the parent and child to identify the presence of uni"parental disomy""."
- Intrauterine Growth Restriction
"Apgar score is" a test given after birth to test the baby's physical condition and evaluate if special medical care is needed.
Halo nevi are estimated to be present in approximately 1% of the general population, and are found to be more prevalent in people with vitiligo, malignant melanoma, or Turner syndrome. All races and sexes are equally susceptible to this disease, although a familial tendency has been reported. The average age of onset is in a person's teenage years.
Nevi are typically diagnosed clinically with the naked eye or using dermatoscopy. More advanced imaging tests are available for distinguishing melanocytic nevi from melanoma, including computerized dermoscopy and image analysis. The management of nevi depends on the type of nevus and the degree of diagnostic uncertainty. Some nevi are known to be benign, and may simply be monitored over time. Others may warrant more thorough examination and biopsy for histopathological examination (looking at a sample of skin under a microscope to detect unique cellular features). For example, a clinician may want to determine whether a pigmented nevus is a type of melanocytic nevus, dysplastic nevus, or melanoma as some of these skin lesions pose a risk for malignancy. The ABCDE criteria (asymmetry, border irregularity, color variegation, diameter > 6 mm, and evolution) are often used to distinguish nevi from melanomas in adults, while modified criteria (amelanosis, bleeding or bumps, uniform color, small diameter or de novo, and evolution) can be used when evaluating suspicious lesions in children. In addition to histopathological examination, some lesions may also warrant additional tests to aid in diagnosis, including special stains, immunohistochemistry, and electron microscopy. Typically; the nevi which exist since childhood are harmless
Trophoblastic neoplasms are neoplasms which derive from trophoblastic tissue.
Examples include:
- choriocarcinoma
- hydatidiform mole