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Pregnant mothers during pregnancy hear many tests called. Amniocentesis is the main source of these tests. What is amniocentesis and who should do why? The answers to these questions Women Health and Diseases Specialist Op. Dr. Contact Alper directlyto.
: What is amniocentesis?
Kiss. Dr. Contact Alper directly During your entire pregnancy, your baby will continue to develop in a sac called amniotic sac. The inside of this pouch is filled with a liquid called amniotic fluid. Amniotic fluid is not a static liquid and is present in continuous absorption and construction. The main source of fluid is the baby's lungs and excretory system. This liquid also contains cells that are spilled from the baby. Since these cells have the same genetic structure as all the cells of your baby, their examination gives information about your baby's genetic status.
: What is the purpose of amniocentesis?
Kiss. Dr. Contact Alper directly The aim of amniocentesis and all other prenatal tests (to diagnose in the womb) is to detect these diseases and anomalies as early as possible, especially genetic diseases which are not possible to treat, to inform the prospective parents about the disease and the possible condition of the baby after the birth. with the decision and approval of the termination of pregnancy as early as possible. Some prospective parents may decide to continue pregnancy in the presence of life-related anomalies such as Down's syndrome. This is purely the choice of couples and there is no legal or conscientious coercion. Similarly, the decision whether or not to perform amniocentesis is again only for the couple. Your doctor does not force you to amniocentesis, only recommends.
: Who is recommended amniocentesis?
Kiss. Dr. Contact Alper directly Amniocentesis is not routinely recommended for all pregnant women. Generally, amniocentesis should be recommended:
• Advanced maternal age: The risk of some genetic diseases, especially Down's syndrome, increases with the age of the woman. If the expectant mother's age will be 35 or more at the expected date of birth, amniocentesis is recommended. Advanced maternal age is the most commonly recommended condition for amniocentesis.
• Positive story: Amniocentesis is recommended for subsequent pregnancies if a previous pregnancy has been terminated due to a genetic problem or if there is a history of a baby with a birth defect such as neural tube defect or spina bifida.
• Presence of known genetic disease: Amniocentesis is recommended if there is a known genetic disorder in the parent or close relatives. Some metabolic diseases indicate hereditary transmission. Although there is no disease in the mother or father, they can be carriers and can transfer the problem to their babies. When the diseased gene comes from both parents, the disease occurs in the baby. Amniocentesis may be useful in the investigation of such conditions. Diseases such as Mediterranean anemia are very common in some regions. In the presence of such conditions, amniocentesis may also be useful to determine if the baby is carrying the disease. Another issue is the marriage of relatives. Since both couples are more likely to be carriers in consanguineous marriages than the normal population, the risk of developing the disease in the infant is high and amniocentesis may be recommended. Amniocentesis is not necessary in this group of patients. The prerequisite is genetic counseling before or during pregnancy. The geneticist will take a detailed history from you and your partner to determine your risk and decide if amniocentesis is needed.
• Positive screening test: Nowadays, some tests are routinely performed in every pregnant woman in order to detect pregnancy at high risk for genetic diseases and anomalies. The most commonly used test is the triple screening test. Screening tests, as the name suggests, do not indicate the presence of anomalies, but only indicate people at high risk. If these tests are positive, amniocentesis is recommended to reach a definitive diagnosis.
• Detection of anomaly in ultrasonography: Amniocentesis may be recommended according to the risk of genetic disorder associated with anomaly in case of anomaly detected during routine ultrasound examinations during pregnancy follow-up.
• Evaluation of lung development: In cases where there is a risk of preterm birth, or if the continuation of pregnancy poses a risk to the mother or the infant, it can be decided whether or not the lung maturation is completed by taking samples from amniotic fluid, such as lecithin / sphingomyelin. Neonatal intensive care conditions have reached a very good level today. 24-25 weeks old babies can live in good centers in our country. Therefore, the application of amniocentesis to evaluate lung development is no longer as popular.
: When is amniocentesis performed?
Kiss. Dr. Contact Alper directly The best time to take a sample of the baby's amniotic fluid is from the 16th to 18th month of pregnancy from the last menstrual date. weeks. The results are usually sometimes late in 1-2 weeks, so it is ideal to do these weeks. Although early amniocentesis (before the 15th week) has been performed recently, it is not preferred due to both laboratory conditions and the high risks associated with the procedure. This application is still in the experimental stage.
: How is amniocentesis performed?
Kiss. Dr. Contact Alper directly During the amniocentesis process, a very fine needle is inserted into the amniotic sac where the baby is swimming and the liquid is drawn. Before the procedure, a detailed ultrasound examination is performed to assess the baby's condition and position. Then, a suitable area for amniocentesis is decided and preparations are started. During the procedure, it is important to find an area away from the baby where the needle will not pass through the baby's placenta. Pregnant woman stretches supine on ultrasound table before procedure. The area where the needle is to be entered is cleaned with antiseptic solutions and the abdomen is covered with sterile drape. A doctor will guide the doctor to perform the procedure with ultrasound. If the procedure is to be performed by one person, specially designed ultrson guides should be used. The person who will perform the procedure places the needle over the abdomen under the ultrasound image and enters the amniotic sac through the layers of the abdomen and then through the uterine muscle. After seeing the tip of the needle on ultrasound, attach an injector to the back of the needle to take approximately 20 milliliters of fluid. The fluid should not be bloody. Once sufficient fluid has been removed, the needle is removed in a single stroke and the procedure is completed. The baby regenerates the fluid in 1-2 hours. The baby and heartbeats are re-evaluated by ultrasonography. The patient can be sent home after resting for 10-15 minutes. The liquid taken is stored at room temperature and sent to the laboratory. The whole process takes about 1-2 minutes.
: What are the procedures done in the fluid?
Kiss. Dr. Contact Alper directly The amniotic fluid contains the baby's living cells. The source of these cells is the baby's respiratory, digestive, excretory system and cells that are spilled from the skin. After the liquid is separated in the laboratory, the cells are grown in culture medium and genetic analysis is performed in the obtained cells. If amniocentesis is performed to evaluate the baby's lung development, it is not sent to the laboratory. Evaluation can be made at the same time.
: Can anomalies detected by amniocentesis be treated?
Kiss. Dr. Contact Alper directly Today, many defects can be detected before birth, but very few can be treated. Unfortunately, treatment of genetic diseases such as Down's syndrome is not possible.