AMNIOCENTESI - ANSWERS TO QUESTIONS

Amniocentesis is a procedure in which a small amount of amniotic fluid (amniotic fluid) is taken under ultrasound control and used for analysis. Amniotic fluid contains the baby's cells that can be analyzed in a genetic laboratory.
The most common application of amniocentesis is the analysis of the genetic material of the fetus (karyotyping of the fetus) with the aim of testing for certain diseases (Down syndrome, Turner syndrome, Edwards syndrome, etc.) and it is also possible to determine paternity.

When and why?

Amniocentesis is most often performed between the 16th and 18th week of pregnancy. The doctor will recommend amniocentesis if:
- You have an increased risk on a double or triple test (double test, triple test) - If the results of the screening tests show an increased risk, it is possible to perform an amniocentesis in order to rule out or confirm the diagnosis.
- In a previous pregnancy, there were chromosomal anomalies or a neural tube defect (NTD) - a genetic disease such as NTD - a serious disease of the brain or spinal cord in a previous pregnancy, it increases the risk in the next pregnancy.
- You are 35 or older - with the age of the mother, the risk of developing genetic diseases such as Down syndrome increases.
- You have genetic diseases in your family or your partner is a carrier of certain genetic mutations - in addition to diseases such as Down syndrome and spina bifida, amnicentesis can diagnose many other hereditary diseases such as cystic fibrosis.

How should I prepare and what should I expect?

If amniocentesis is performed before the 20th week of gestation, the bladder must be full. Drink plenty of fluids before coming to the intervention. Before the intervention, it is necessary to sign the informed consent (consent). If you are Rh negative, the doctor will inform you that after the intervention you need to receive a protective injection of Rh immunoglobulin (Rhogam).
During the intervention, the doctor will first determine the position of the baby and the gestational age of the pregnancy by ultrasound. After the stomach is cleaned with an antiseptic, a thin needle is inserted through the stomach into the uterus and a small amount of amniotic fluid is taken. The procedure is short and slightly uncomfortable (like when blood is taken from a vein), so no anesthetic is needed.
After the intervention, you go home. Physical activity should be avoided for a few days after the intervention. Contractions or slight vaginal bleeding may occur immediately after amniocentesis. In the meantime, the amniotic fluid is sent to a genetic laboratory for analysis.

What is the risk?

Although amniocentesis provides valuable information about your baby's health, like any invasive procedure, amniocentesis is not without risks. The advice to perform an amniocentesis is given when the results of the test can have a significant impact on the further course of the pregnancy. It is very important to understand the risks of amniocentesis and be prepared for the results. Your gynecologist or genetic counseling can help you in making a decision.
The most important risk includes pregnancy loss (miscarriage), which ranges between 1:200 and 1:500 cases. Other risks are significantly lower and include: leakage of amniotic fluid, infection, Rh sensitization (prevented by injection of Rh immunoglobulin)...