Amniocentesis is an invasive prenatal diagnostic procedure. During the examination, malformations, chromosomal abnormalities and infections can be detected in your unborn baby. For this purpose, amniotic fluid is taken and the fetal cells it contains are examined.
In this article, we summarize what exactly amniocentesis is and which diseases it can detect. We also explain when the test 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 your baby's cells, which can then be multiplied in a cell culture in the laboratory.
The genetic material can then be examined for malformations or chromosomal abnormalities. The concentration of certain proteins (alpha-fetoprotein) can also indicate malformations of the spine or abdominal wall. If a child suffers from a neural tube defect, this could be diagnosed during the amniocentesis.
What diseases can be detected during the procedure?
By taking cells from the amniotic fluid, doctors can carry out detailed tests. Your baby's chromosomes can be analyzed and the DNA is also examined. Chromosome analysis can detect various genetic abnormalities and malformations in the child.
Possible genetic abnormalities can be trisomy 13 (Pätau syndrome), trisomy 18 (Edwards' syndrome) or trisomy 21 (Down's syndrome). In trisomy, one chromosome is present in excess: It does not occur twice, but three times. This affects your baby's development in the womb.
Hereditary diseases can also be detected by analyzing the baby's cells. Malformations, such as an open back or abdominal wall defects, can also be diagnosed. This also applies to infections such as toxoplasmosis.
In which cases is an amniocentesis advisable?
An amniocentesis is not usually recommended without a specific reason. There are various risk factors that increase the probability of malformations or genetic abnormalities in an unborn child. If one of these factors is present, doctors may advise you to have an amniocentesis.
The maternal age, for example, is a decisive factor. Pregnant women over the age of 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 malformation, your doctor will probably advise you to have an amniocentesis. This also applies to a previous miscarriage.
The test may also be advisable if the first trimester screening was abnormal. If the findings are abnormal, the amniocentesis can provide information on whether the initial diagnosis is confirmed.
Procedure & findings: How does an amniocentesis work?
If you are pregnant and have an amniocentesis, you will no doubt be nervous before the procedure and have lots of questions. At the same time, many expectant mothers are also worried about the results of the test. We have summarized for you how an amniocentesis usually works:
Detailed information:
Before an amniocentesis can be carried out, your doctor is obliged to provide you with detailed information about the procedure. The procedure will be explained to you in detail and you will also be informed about possible risks. If you have any questions before the examination, you should definitely ask them during the consultation.
Arriving at a practice or clinic:
An amniocentesis is not usually carried out by your gynecologist. Instead, you will go to a clinic or specialized practice.
Checking the position of the baby:
Before the puncture, an ultrasound scan will 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 will now insert a thin needle through your abdominal wall and remove amniotic fluid. This is done under complete ultrasound control so as not to injure the child in any way. You will then remain in the clinic for 30 to 60 minutes for observation and will then be 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 can often be a real ordeal for waiting parents.
An amniocentesis is an invasive procedure. However, it is usually painless, so no anesthetic is required. Nevertheless, your doctor will advise you to rest for a few days after the examination.
Risks & possible complications of amniocentesis
Amniocentesis is considered a relatively safe prenatal diagnostic procedure. Nevertheless, it is associated with risks. The risk of miscarriage after an amniocentesis is 0.1 to 0.5%. In contrast, the risk of a placenta puncture (chorionic villus sampling) is significantly higher at 1%.
Other risks include bleeding, cramps and infections. Premature rupture of the membranes with amniotic fluid leakage can also occur. If any of these symptoms occur, you should consult a doctor or clinic immediately.
As a rule, doctors give their patients three days' rest after an amniocentesis. During this period, you should take it easy physically and avoid sexual intercourse.
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Conclusion: amniocentesis remains an individual decision
Many parents-to-be are faced with the decision of whether or not to have an amniocentesis. It is your free decision, as it is a voluntary test that is not compulsory. There are reasons for and reasons against it. Weigh up the decision carefully before you decide for or against an amniocentesis.
