This brochure has been prepared to provide information about amniocentesis. What amniocentesis is, when and how it is done, what will happen after the test, and the possible benefits and risks of having this test will be discussed. This brochure has been designed to help you ask the questions that are important to you during your consultation with your doctor. What is amniocentesis? The amniotic sac is a sac in the uterus that contains the fluid in which the baby swims. Amniocentesis is the process of removing some of the fluid necessary for genetic testing during pregnancy. It is a frequently used method to test the baby's genes or chromosomes in some specific genetic diseases. You may be advised to have amniocentesis for many reasons. You or your partner have a genetic disease that you can pass on to your child. You or your partner has a genetic disease in your family that you can pass on to your child. You have previously had a child with a genetic disease. Your baby has a high risk of having a genetic disease as a result of any test you had during pregnancy (such as ultrasound, nuchal translucency scan or blood test). How is amniocentesis done? Amniocentesis is the process of removing some of the amniotic fluid surrounding the baby in the uterus. First, the position of the baby and the placenta is checked with ultrasound and the skin in the abdominal area is cleaned with an antiseptic solution. Then, a thin needle is inserted into the uterus through the abdominal wall and some amount of the fluid surrounding the baby (about 15 milliliters) is removed. The fluid in the baby contains some cells from the baby's skin, and these cells can be used in the laboratory to check the baby's genes and chromosomes. In rare cases, a sufficient amount of fluid may not be taken during the test and a repeat intervention may be necessary. When is amniocentesis done? Amniocentesis is usually performed after the 15th week of pregnancy. Is amniocentesis a painful procedure? Most women consider amniocentesis to be an uncomfortable procedure rather than a painful one. The process usually takes a minute or two. Some patients may feel a feeling of tightness in the uterus after the procedure or a slight tenderness during the first day after the procedure. This is unusual It is not. What happens after amniocentesis? The intervention only takes a minute or two. It is recommended that you bring a companion to assist you during and after the attempt. You should not strain yourself for a few days following the attempt. You should avoid lifting heavy objects and strenuous exercise. If you experience abdominal discomfort, fever, or unusual vaginal discharge or bleeding for more than 24 hours, you should consult your doctor. What are the risks of amniocentesis? 1% of women who undergo amniocentesis have a risk of miscarriage. Although the real cause of these miscarriages is unknown, 99 out of 100 pregnancies continue their normal course. Furthermore, there is no evidence that amniocentesis is harmful to your baby. Is amniocentesis reliable? You should talk to your doctor about the accuracy of the genetic test you are considering. Because the reliability of the test varies depending on the type of change in genes or chromosomes. In rare cases (1%), there may not be enough cells in the fluid taken by amniocentesis to perform genetic testing. In such a case, the patient is informed and it is recommended to repeat the intervention. Can all genetic changes be detected by amniocentesis? Test results usually only provide information about the condition being tested. Occasionally, it may reveal consequences for other conditions. There is no universal test for all genetic diseases. How long does it take to get the results of amniocentesis? The time it takes to get results depends on which disease you are being tested for and usually takes 3 weeks. If it takes longer, it may mean that cell development takes more time. If you are having amniocentesis for a rare genetic disease, ask your doctor how long it will take to get the results. When the results are ready, your doctor may call you to talk or the results may be given to you over the phone or other means. You should discuss this with your doctor when you get tested. What happens if the results show that your baby has a genetic disease? If the results show that your baby has a genetic disease, your doctor will explain what this means and how it will affect your baby. If there is a treatment option, doctors will discuss it with you. will. They will talk to you about your options and sometimes the possibility of terminating the pregnancy. Doctors will help you find what is best for you and your baby. In rare cases, this test may not be able to detect unusual chromosomal changes that may have an unpredictable effect on your baby. HIV infection If you have HIV, there is a small risk of passing the HIV virus to your baby during amniocentesis. Therefore, if you are HIV positive, discuss this with your doctor to minimize the possibility of passing HIV virus to the baby during amniocentesis. Deciding on amniocentesis Deciding to have amniocentesis during pregnancy can be difficult. Remember that if you do not want to have amniocentesis, you do not have to have it. Only have amniocentesis done when you and your partner think the information the test will provide is very important. Do not think that the risk of having amniocentesis is very high. Information about the disease being tested. The risk that the baby will have the genetic disease for which you are considering testing. Information about the test and what the test results mean. Reliability of the test. The possibility of repeating the test and receiving inconclusive results from the test. Low risk. How long it will take to receive test results. How you will receive the test results. What your options are if your baby is found to have a genetic disease. How this process may affect you and your partner emotionally. These are some of the issues you should consider before deciding to have amniocentesis. You can also view the 'Frequently Asked Questions' leaflet, which lists many questions you may want to ask your doctor about genetic testing. This list is made possible by people who have gone through experiences similar to yours. Write your questions and concerns below and bring them to your appointment. If you will need a translator, let me know in advance
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