Amniocentesis: Indications and Possible Risks

By BSc, MSc (embryologist) and (invitra staff).
Last Update: 09/23/2019

Amniocentesis is a prenatal test in which a sample of the amniotic fluid surrounding the fetus is removed for testing.

Because it is an invasive diagnostic test, amniocentesis has some risks that compromise pregnancy. However, it is very useful when it comes to detecting if the fetus presents any anomaly or malformation.

This amniotic fluid test is generally recommended for all women over the age of 35.

Definition of Amniocentesis

Amniocentesis is the study of the fluid inside the amniotic sac to determine if the fetus is developing correctly or, on the contrary, has some disease or alteration.

When surrounding the fetus throughout gestation, the amniotic fluid contains fetal cells, which are detached from the fetus' skin and intestine, as well as chemicals produced by the fetus that can be tested.

How is it performed?

To obtain the amniotic fluid, a puncture is necessary with a long, thin needle, which is inserted through the abdominal wall and through the uterine wall and amniotic sac.

Between 20 and 25 ml of amniotic fluid is then collected and the needle is carefully removed.

This intervention is controlled by ultrasound to avoid damaging the fetus at any time.

Once the cells contained in the amniotic fluid have been obtained, it is possible to make a karyotype of the baby, i.e. a detailed analysis of all his chromosomes.

When is it done?

Amniocentesis is usually performed in the second trimester of pregnancy, when the woman is between 15 and 20 weeks gestation.

At this point, the risk of miscarriage is lower, since the woman has already passed the first trimester barrier.

Apart from that, before the 15th week of pregnancy, the amount of amniotic fluid is still not enough and, in addition, the amniotic membrane is still too solid to make the puncture.

It is best to do amniocentesis between the 16th and 18th week at the latest, as at this time it is still possible to terminate the pregnancy if it is confirmed that the fetus has some serious pathology.

Indications

The main indication for amniocentesis is maternal age.

It is recommended to do it from the age of 35 onwards, as the risk that the baby presents some genetic anomaly or chromosomal disease begins to be higher. From the age of 40, an amniocentesis is almost obligatory.

It is also very important to consider the woman's anamnesis. For example, if you have had a miscarriage in the past, and especially if you have had previous pregnancies with chromosomal alterations or fetal malformations.

Finally, if any previous diagnostic test with altered result has been performed, an amniocentesis will also be necessary to confirm the result. This would be the case with triple screening done at 10-12 weeks of pregnancy.

What does amniocentesis detect?

This prenatal diagnostic test has the advantage of being able to detect a multitude of fetal alterations, but the most common results are the following:

Chromosomal Alterations
especially those that affect the number of chromosomes, such as Down syndrome, Edwards syndrome, Patau syndrome, Klinefelter syndrome or Turner syndrome.
Chromosomal Alterations
if there is a hereditary disease, amniocentesis can detect most of these genetic diseases, such as cystic fibrosis or sickle cell disease.
Fetal malformations
such as spina bifida, anancephaly or other neural tube disorders. This is done by measuring the level of alpha-fetoprotein (AFP), a substance produced by the liver of the fetus and found in the amniotic fluid.
Lung condition
in a late amniocentesis, around 32 and 36 weeks, it is possible to determine whether the lungs are mature enough for the fetus to be born safely, in case of risk of premature birth.
Rh Factor
It’s purpose is to assess the severity of fetal anaemia in the event of Rh incompatibility with the mother. In this case, the bilirubin content in the amniotic fluid will indicate whether the baby requires an intrauterine transfusion.
Infections in the uterus
caused by microorganisms that could affect the fetus.
Polyhydramnios
if there is excess amniotic fluid, amniocentesis may be used as a treatment to decrease the amount of fluid.
Sex of the baby
although it is not the purpose of the test, analysis of sex chromosomes will give information about the sex of the fetus.

Associated risks

As we have already mentioned, amniocentesis is an invasive test and therefore involves some risks when performing the puncture.

Despite this, the risk of miscarriage is less than 1% and is considered a safe test in most cases.

The most important thing is that the procedure is performed by a medical expert, who knows how to see by ultrasound the exact place where to do the puncture without damaging the fetus.

Rarely, in around 1% of the cases, it is not possible to perform the operation correctly on the first attempt and the amniotic puncture must be repeated.

On the other hand, amniocentesis hurts when the needle is inserted, and it is also possible to feel discomfort in the abdominal area during the extraction of amniotic fluid.

Other possible risks or side effects of amniocentesis include the following:

  • Amniotic fluid loss or bleeding
  • Puncture of the fetus or umbilical cord during testing
  • Transmission of infections from mother to fetus, such as HIV, hepatitis C, or toxoplasmosis
  • Irritation around the puncture site
  • Infections in the uterus after testing

Something very important when deciding whether or not to do an amniocentesis is to have a clear idea of what to expect when the results are received. If it is finally revealed that the baby has an abnormality, the woman or couple will have to make the decision to abort or continue the pregnancy despite everything.

In some cases, the parents are not willing to terminate the pregnancy voluntarily under any circumstances and, therefore, it would not make sense to run the risks of amniocentesis.

Alternatives

In recent years, new methods of early detection of fetal alterations have been developed in order to reduce the number of amniocentesis performed.

Below, we will discuss some of these alternative tests:

Non-invasive prenatal test
consists of a simple extraction of blood from the mother's arm. It has been proven that there is fetal DNA in maternal blood samples from the 9th week of pregnancy, where up to 80% of the chromosomal anomalies that would be diagnosed with amniocentesis can be detected.
Triple screening
is the estimation of the risk that the fetus has chromosomal abnormalities. It is calculated from the results of a maternal blood test and measurement of the nuchal translucency of the fetus.
Preimplantation genetic diagnosis (PGD)
is the earliest diagnostic test available, since it is made from a cell extracted from the embryo itself before being transferred to the mother's uterus. For this, the woman will need to be undergoing in vitro fertilization (IVF) treatment.

FAQs from users

Is it necessary to rest after amniocentesis?

By Zaira Salvador BSc, MSc (embryologist).

Yes, it is convenient to have absolute rest the same day after the amniotic puncture and not to make great efforts during the following 2 or 3 days. It is also not recommended to have sexual relations during the following week.

In case of significant cramps, loss of amniotic fluid or bleeding, it is advisable to see a doctor as soon as possible.

Is amniocentesis necessary in a pregnancy through egg donation?

By Zaira Salvador BSc, MSc (embryologist).

Well, not in principle. The donated eggs come from young, healthy donors, mostly under 30 years of age. The likelihood of these eggs accumulating genetic mutations is low and therefore amniocentesis is not necessary even if the recipient mother is of advanced maternal age. Combined first-trimester screening is usually done because it does not present any complications or risks.

In spite of everything, it is always advisable to follow the instructions of the doctor responsible for the control of the pregnancy.

Suggested for you

If you want to know all the tests that are usually done throughout the 40 weeks of gestation, you can read more in the following article: Medical control During Pregnancy

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References

Authors and contributors

 Zaira Salvador
Zaira Salvador
BSc, MSc
Embryologist
Bachelor's Degree in Biotechnology from the Technical University of Valencia (UPV). Biotechnology Degree from the National University of Ireland en Galway (NUIG) and embryologist specializing in Assisted Reproduction, with a Master's Degree in Biotechnology of Human Reproduction from the University of Valencia (UV) and the Valencian Infertility Institute (IVI) More information about Zaira Salvador
License: 3185-CV
Adapted into english by:
 Romina Packan
Romina Packan
inviTRA Staff
Editor and translator for the English edition of inviTRA. More information about Romina Packan

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