Amniocentesis is an invasive prenatal diagnostic procedure. During the examination, malformations, chromosomal disorders, and infections can be detected in your unborn baby. For this purpose, amniotic fluid is taken and the fetal cells contained therein are examined.
In this article, we summarize exactly what amniocentesis is and which diseases it can detect. At the same time, we explain when the examination should be carried out and what risks it poses for the pregnancy.
What is an amniocentesis?
Amniocentesis is part of prenatal diagnostics. Amniotic fluid is removed from the amniotic sac using a needle. This contains cells from your baby, which can then be multiplied in a cell culture in the laboratory.
The genetic material can then be examined for malformations or chromosomal disorders. The concentration of certain proteins (alpha-fetoprotein) can also indicate malformations of the spine or the abdominal wall. If a child suffers from a neural tube defect, this could be diagnosed as part of the amniocentesis.
Which diseases can be detected during the procedure?
By taking cells from the amniotic fluid, doctors can perform detailed tests. Your baby's chromosomes can be analyzed and the DNA is also examined. As part of the so-called chromosome analysis, various genetic abnormalities and malformations in the child can be detected.
Possible genetic deviations can include trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), or trisomy 21 (Down syndrome). In trisomy, a chromosome is present in excess: it occurs three times instead of twice. Your baby's development is already affected in the womb as a result.
As part of the analysis of the fetal cells, hereditary diseases can also be detected. Malformations, such as spina bifida or abdominal wall defects, can also be diagnosed. This also applies to infections such as toxoplasmosis.
In which cases is an amniocentesis advisable?
Amniocentesis is usually not recommended without a specific reason. There are various risk factors that increase the likelihood of malformations or genetic abnormalities in an unborn child. If one of these factors is present, doctors may advise you to have an amniocentesis.
Maternal age, for example, is a decisive factor. Pregnant women over 35 have an increased risk, so an amniocentesis may be recommended. Familial hereditary diseases are also a risk factor. If you have already given birth to a child with a chromosomal disorder or a malformation, your doctor will likely advise you to have an amniocentesis. This also applies to a previous miscarriage.
The examination can also be advisable if the first-trimester screening was abnormal. In the event of an abnormal finding, amniocentesis can provide information as to whether the initial diagnosis is confirmed.
Procedure & findings: How does an amniocentesis work?
If you are pregnant and having an amniocentesis, you are certainly nervous before the procedure and have many questions. At the same time, many expectant mothers are also afraid of the result of the examination. We have summarized for you how an amniocentesis works in most cases:
Detailed explanation:
Before an amniocentesis can be performed, your doctor is obliged to inform you in detail about the procedure. The process will be explained to you precisely and you will also be informed about possible risks. If you have any questions before the examination, you should definitely ask them during this consultation.
Arriving at a practice or clinic:
An amniocentesis is usually not performed at your gynecologist's office. Instead, you visit a clinic or specialized practice for this purpose.
Checking the baby's position:
Before the puncture, an ultrasound examination is used to check how your baby is lying. This ensures that the baby is not injured by the puncture. The best possible puncture site is usually also marked.
Removal of the amniotic fluid:
Your doctor now inserts a thin needle through your abdominal wall and removes amniotic fluid. Continuous ultrasound monitoring is carried out to ensure the child is not injured under any circumstances. You then remain in the clinic for 30 to 60 minutes for observation and are then discharged.
Waiting for the result:
After the amniocentesis, a rapid test (FISH test) is usually carried out, which provides an initial result within 48 hours. However, you will only receive the final result after two to three weeks. This time is often an ordeal for waiting parents.
Amniocentesis is an invasive procedure. However, it is usually painless, so no anesthesia is necessary. Nevertheless, your doctor will point out that you should allow yourself a few days of rest after the examination.
Risks & possible complications of amniocentesis
Amniocentesis is considered a relatively safe procedure in prenatal diagnostics. Nevertheless, it is associated with risks. The risk of miscarriage after an amniocentesis is 0.1 to 0.5%. In contrast, the risk with a placental puncture (chorionic villus sampling) is significantly higher at 1%.
Other risks include bleeding, cramps, and infections. Premature rupture of membranes with loss of amniotic fluid can also occur. If any of these symptoms occur, you should consult a doctor or clinic immediately.
As a rule, doctors prescribe three days of rest for their patients after an amniocentesis. During this period, you should take it easy physically and not have sexual intercourse.
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Conclusion: Amniocentesis remains an individual decision
Many expectant parents are faced with the decision of whether or not to have an amniocentesis. It is your free decision, as it is a voluntary examination for which there is no compulsion. There are reasons for and reasons against it. Weigh the decision carefully before you decide for or against an amniocentesis.
