Many screening tests are performed to investigate the health status of mother and baby during pregnancy. Some of these aim to examine whether there is any genetic disease in the baby. The screening test is called amniocentesis in cases where there is a suspicion of any genetic disease in the baby, if the mother has previously been pregnant with a baby with a genetic disease or has given birth to a baby with a genetic disorder.
What is Amniocentesis?
Conditions such as chromosomal disorder, genetic disease or infection can be diagnosed with amniocentesis, which is performed by taking a sample from the amniotic fluid, the fluid in which the baby is in the mother's womb. This procedure, which takes a short time and carries a low risk, should be applied to pregnant women if deemed necessary by the physician in order to allow the definitive diagnosis of health problems that may be a threat to the mother and the baby. It can be stated that it is the process of taking a sample from the liquid. The amniotic fluid contains the baby's cells. For this reason, many diseases can be diagnosed by examining the sample taken from this fluid under laboratory conditions. Although the most common reason for testing is suspected of chromosomal disorder, it is possible to diagnose many genetic diseases and infections by amniocentesis.
Amniotic fluid or amniotic fluid is found in the uterus. To take a sample of this fluid, a thin needle is inserted through the abdomen into the uterus. Since it carries some risks, albeit at a low rate, it is applied only if deemed necessary by the physician, considering the profit and loss situation. It enables the definitive diagnosis of a number of diseases due to For this reason, this test is applied in case of suspicion of diseases that can be diagnosed through amniocentesis.
The vast majority of amniocentesis procedures performed around the world are performed to investigate chromosomal diseases such as Down syndrome, Edward's syndrome and Patau syndrome. All of this Some of the other conditions that require amniocentesis are as follows:
- Investigating whether the baby's lungs are mature enough for delivery (Fetal Lung Test)
- Diagnosis of fetal infections
- Finding the possibility of blood incompatibility
- Due to the excess amount of amniotic fluid (polyhydramnios), it is necessary to remove some of it
- Paternity test
- Chromosome anomaly as a result of double and triple screening tests performed during pregnancy follow-up suspicion of
- Mother's age over 35
- Conditions such as chromosomal anomaly, neural tube defect in a previous pregnancy of the mother
- Abnormal findings as a result of ultrasound
- Inbreeding or having a family history of a genetic disease such as cystic fibrosis, sickle cell anemia, muscular dystrophy
In What Week Is Amniocentesis Performed?
At what week amniocentesis should be performed, the purpose of the test is determined. varies accordingly. Genetic amniocentesis, which is performed to investigate genetic diseases, is performed on the 15-20th day of pregnancy. done between weeks.
The reason for waiting for this process is that the complication risk of amniocentesis is higher in the early pregnancy period before the 15th week. Amniocentesis for fetal lung maturity test is performed to investigate whether the baby's lungs have reached the maturity that can adapt to the postnatal period. applied between weeks. Before the 32nd week, it is not possible for the baby's lungs to be mature enough. Apart from these, amniocentesis procedure performed for different purposes such as treatment of excess amniocentesis fluid (polyhydramnios), DNA test, patient's request and consent It can be performed at the gestational week considered appropriate by the physician.
How is Amniocentesis Performed?
The patient is informed by healthcare professionals about the amniocentesis procedure. After giving information about how and why the procedure will be performed and the risks, the patient's legal consent is obtained. Before the amniocentesis procedure performed in the week before the 20th week of pregnancy, the patient's bladder should be full in order to support the uterus. In procedures performed after the 20th week, the bladder should be empty in order to minimize the possibility of perforation.
The position of the baby should be determined with the help of ultrasound by the physician who will perform the procedure. For this, the mother is asked to lie on her back on the stretcher and open her stomach. Ultrasound gel is applied on the abdomen and the baby is imaged. After this process is completed, the abdomen is cleaned with an antiseptic solution and amniocentesis is started.
There is a slight discomfort during the procedure, so anesthesia is usually not applied. With the help of a syringe, also called an amniocentesis needle, under ultrasound guidance, an entry is made from the abdomen into the uterus and sufficient amniocentesis fluid is taken. The amount of fluid to be taken is determined by the gestational week.
During the procedure, the mother should lie still. With the insertion of the needle, a stinging sensation in the abdomen and cramping in the uterus may be felt. This process, which takes a very short time, ends with the removal of the needle. The fluid taken is sent to the relevant laboratory for examination. Depending on the purpose of the test, the results can be obtained after a few days, and this process may take up to 2-3 weeks, especially in detailed genetic amniocentesis. After the procedure, it is normal for the patient to feel a small amount of pelvic pain or cramp, and to have mild vaginal bleeding. /h2>
One of the concerns of many pregnant women who are recommended to have amniocentesis is whether there is a possibility of miscarriage as a risk of amniocentesis. Amniocentesis carries a small risk of miscarriage. An experienced physician The risk of miscarriage is very low in the amniocentesis procedure performed by It is stated that the risk of miscarriage for amniocentesis performed after the 15th week is between 0.6% and 1%. The risk of miscarriage increases in transactions performed earlier than the 15th week.
Another risk is the risk of infection, as in all surgical procedures. The risk for infection that may develop during or after amniocentesis is 0.1%.
In case of Rh factor difference between mother and baby, some of the baby's blood may enter the mother's circulation during amniocentesis, causing antibody production. If this condition is not treated, it can lead to various health problems in the baby. In order to avoid such a risk, mothers who do not know their blood group should have a blood group test before amniocentesis.
In addition to these, it may be possible for the hepatitis B, C or HIV infection in the mother to be passed on to the baby during amniocentesis. Amniocentesis is recommended to be performed if deemed necessary by the physician, due to the very low probability of these risks and the test to be performed gives information about diseases that may affect the life of the mother and the baby.
How to Evaluate the Result of Amniocentesis?
For diseases detected as a result of amniocentesis, the result means a definitive diagnosis. However, parents should be aware that there may be different diseases that cannot be detected in amniocentesis. The results of amniocentesis, which are taken in an average of 2-3 weeks, are evaluated by the physician and the course to be followed in case of diagnosis of any disease is determined.
For those whose amniocentesis results are positive, necessary information is given by the physician and the path to be followed is determined in line with the parents' request. Most of the diseases examined in amniocentesis are incurable diseases, and some of them are of a type that can threaten the life of the mother and baby. In the event of such a situation, the mother, father and physician can evaluate together and decide to terminate or continue the pregnancy.
If the baby needs to be born prematurely in the amniocentesis performed for fetal lung maturity test, the time of birth is determined in the light of the information obtained about the lungs. all to do Parents' consent and legal approval are obtained for the procedures.
Read: 0
