Amniocentesis is defined as taking a sample from the amniotic fluid in the amniotic sac, which contains the baby. The steps of the procedure are simple and short. After sterile conditions are provided, a thin needle is inserted into the abdomen under ultrasound guidance, the abdominal layers are passed, the uterine wall is passed, and the baby's amniotic sac is reached. The side where the baby is not present and only the amniotic sac is observed is preferred. Even if the needle used touches the baby, it usually does not cause any harm. The sample taken from the amniotic sac with the help of a syringe is sent to the laboratory in a sterile form for examination. Although the procedure is simple, it is important that the doctor who will perform the procedure has received special training.
Amniocentesis, which is usually done when a chromosomal abnormality is suspected, can actually provide other information. Tests can be performed on the fluid taken to show the baby's lung maturation, and it can provide information about whether an infection the mother has had has been passed on to the baby.
The amniotic fluid sample taken for chromosomal anomaly screening is valuable due to the epithelial cells belonging to the baby in it. These cells are separated by special processes and brought to the stage of proliferation in a culture medium. In this way, the chromosome structure of the divided cell can be determined. The result is usually definite. The exceptional case is mosaicism, where normal chromosome formation is observed in some cells while abnormal formation is seen in others. Rarely, the culture fails due to inadequacies in the culture medium or a lack of cells in the sample taken. In this case, the process may need to be repeated to obtain a result.
Amniocentesis is not an innocent procedure. A miscarriage may be observed in one out of 200 pregnant women who undergo amniocentesis. For this reason, physicians recommend this procedure to their high-risk patients. If the risk is high in screening test results, if the nuchal translucency value is high, or if there is a finding suggesting a genetic anomaly in the ultrasound, the prospective parents are provided with detailed information. The procedure is performed after the prospective parents read and sign the information and consent form. The amniocentesis procedure is performed between the 16th and 19th weeks of pregnancy. Results can be obtained in a few days with the Fish test method, but the safer culture results can be obtained after a wait of approximately 20 days. The procedure is painless and does not require anesthesia. If there is a genetic anomaly compatible with life as a result of the procedure, the pregnancy can be terminated with the family's request for termination and with the approval of the ethics committee.
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