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#1
08.04.2005, 08:16
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Врожденная опухоль головного мозга
Здравствуйте. У моей двоюродной сестры 9 месясцев назад родилась дочка Настенька. 1,5 месяца назад у нее обнаружили опухоль головного мозга и кисту. Врачи объяснили, что врожденная. Сейчас шансы не утишительная. Операция 50 на 50%, что выживет. Опухоль полностью удалить не смогут. В общем осталось только ждать...
Сестре советуют проверить генетику. Она категорически отказывается сннова рожать. Посоветйте, как пступить. Является ли причиной опухоли генетика? Моей сестре всего 22 года. Спасибо, Мария 
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#2
12.04.2005, 20:35
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Цитата:
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#3
12.04.2005, 20:38
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Это значит, что патология развилась внутриутробно, но причинами может быть не известное стечение обстоятельств, что и нужно выяснить. И это совсем не значит, что у следующего ребенка патология повториться.
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#4
12.04.2005, 20:45
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#11
12.04.2005, 21:29
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Показаний достаточно много, например как я уже говорила, наличие у родственников каких либо наследственных заболеваний (я не говорю о моногенных, которые требут не кариотипирования, а определения наличия "поломаного" гена, а о мультифакториальных), отягощенный анамнез, в часности воздействие мутагенными, канцерогенными веществами, радиации, наличие двух и более произвольных выкидышей у женщины, недифференцированные формы умственной отсталости и множественные ВПР. Эти показания включают (+ кариотип): 1)анализ случаев сложного хромосомного мозаицизма с небольшим клоном аномальных клеток; 2)определение происхождения и генетического состава дополнительных маркерных хромосом; 3)идентификация хромосом, вовлеченных в сложные перестройки, при участии 3-х и более хромосом; 4)уточнение точек разрыва на хромосомах и потерь генетического материала в случае сложных хромосомных перестроек (сбалансированные и несбалансированные транслокации, особенно семейные случаи) или теломерных (субтеломерных) делеций.
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#12
12.04.2005, 21:38
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#13
12.04.2005, 21:46
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Наблюдать, безусловно, всех. УЗИ + скрининговый "тройной" тест - определение содержания в крови беременной женщины альфафетопротеина (АФП), хорионического гонадотропина (ХГЧ), свободного эстриола (E3). Что касается проведения дополнительных генетических исследований (хорионцентез, плацентоцентез, амниоцентез, кордоцентез) - кариотипирование, биохимия, молекулярная генетика - по показаниям. Возраст после 35 - само по себе веское показание, однако как показывает практика, не всех беременных направляют на исследование кариотипа.
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#15
12.04.2005, 21:51
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Triple screen test.
During the 16th to 18th week of pregnancy, expectant mothers typically are offered a blood test called the triple screen test or triple marker. For the screening, a sample of blood is drawn from the mother to measure three basic things: the levels of hCG (human chorionic gonadotropin) and estriol, which are produced by the placenta, and the level of alpha-fetoprotein (AFP), which is produced by the fetus. The levels of these three substances in the blood can help doctors identify a fetus at risk for certain birth defects such as neural tube defects like spina bifida or chromosomal abnormalities like Down syndrome. In determining the results of the test, doctors take into account the mother's age, weight, and ethnicity; if she is diabetic; if she is having twins or other multiples; and the gestational age of the fetus. Many of these factors affect the levels of the substances being measured and the interpretation of the test results, so the accuracy of this information is vital. If any of the given information is incorrect, the results from the screening may be inaccurate as well. Receiving Abnormal Results If you have undergone the triple screen test and received abnormal results, there is no need to worry yet. Just because the test is abnormal doesn't mean that your child has a birth defect. Rather, an abnormal triple screen indicates that the fetus should be evaluated further. Usually, when a pregnant woman's results show high levels of AFP, pointing to a possible risk of spina bifida or other neural tube defects, her doctor will order a detailed ultrasound to examine the fetus, including the fetal skull and spine. In addition, an ultrasound can confirm the age of the fetus and whether the woman is carrying multiples. The doctor also may offer amniocentesis, which is the withdrawal of amniotic fluid from the uterus for further testing. If a woman's triple screen results reveal low levels of AFP and high levels of estriol and hCG, she has an increased risk of having a baby with Down syndrome. The next step after receiving this test result is usually an ultrasound to confirm the baby's due date and to look for any obvious abnormalities. Unfortunately, ultrasound is not a very good test for picking up Down syndrome - in fact as many as 50% of cases of Down syndrome look entirely normal on a mid-trimester ultrasound. For this reason, patients are offered amniocentesis so chromosome testing can be done on the fetal cells that are found in the amniotic fluid. In general, high AFP levels are not a cause for alarm. Some doctors will recommend extra rest and follow closely those women who have high AFP levels with no other explanation because they could have an increased risk of having low birth weight or premature babies. If there is a need for concern, your doctor will let you know. If you have any questions or concerns about triple screen testing, it might also be a good idea to discuss your feelings with your doctor or to seek the advice of a genetic counselor. Amniocentesis Test Overview Amniocentesis is a test to analyze the liquid (amniotic fluid) that surrounds your baby (fetus). Amniotic fluid contains cells and other substances that can give clues about your baby. Amniocentesis can be done after about the 14th week of pregnancy, when there is enough amniotic fluid for testing. It is done by inserting a needle through your abdomen into your uterus. Approximately 2 Tbsp(30 mL) of the amniotic fluid is collected and examined. Amniocentesis is usually done between weeks 15 and 18 (during your second trimester) or later in your pregnancy. Amniocentesis is performed for women whose pregnancies may be high-risk. These include women: Over 35 years old. With diabetes. With other children who have a genetic problem. With an abnormal triple screen test (alpha-fetoprotein, estriol, and human chorionic gonadotropin). With Rh sensitization. Amniocentesis in early pregnancy Amniocentesis is usually done between weeks 15 and 18 to determine whether your baby has certain types of birth defects. Amniotic fluid contains cells that have been shed by your developing baby. These cells can be tested for more than 100 types of defects that are associated with inherited (genetic) diseases (such as Down syndrome or cystic fibrosis) or neural tube defects. Testing for these diseases is most commonly done between the 15th and 18th weeks of pregnancy, when the pregnancy can be ended if your baby is severely disabled. However, amniocentesis cannot detect many common birth defects, such as cleft lip, cleft palate, heart problems, and some types of mental retardation. Amniocentesis in early pregnancy is not done as a general screening test for birth defects because it carries some risk to your baby and cannot detect some common birth defects. There is a slight chance (about 1 in 200) that amniocentesis may cause a miscarriage. Amniocentesis is done when the risk of a birth defect or disease outweighs the risk of the procedure. Amniocentesis can be done to help you prepare for a possible birth defect or to help you make a decision about ending the pregnancy if a serious problem is found. [Ссылки доступны только зарегистрированным пользователям ] [Ссылки доступны только зарегистрированным пользователям ] [Ссылки доступны только зарегистрированным пользователям ]
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