Have you ever heard about amniocentesis and what is it about? If you are trying to become a mother, this information may prove to be quite useful.
Table of Contents
- 1 What Is Amniocentesis?
- 2 The Importance of Amniocentesis
- 3 What Factors Increase the Risk of Having a Child with a Genetic Illness?
- 4 What Is the Risk of Pregnancy Loss Due to Amniocentesis?
- 5 The Risks of Amniocentesis
- 6 Is There Any Special Preparation Before & After the Procedure?
- 7 When Are the Results Received?
What Is Amniocentesis?
Amniocentesis is described by a prenatal diagnostic test which is performed in order to determine if the baby has specific genetic malformations or infections. This procedure will involve the extraction of a small amount of amniotic liquid from the uterus. The amniotic liquid is nothing more than the liquid in which the fetus floats and which also includes fetal cells. These particular cells are extracted through this procedure and are further analyzed in the lab to determine the presence of any genetic abnormalities.
Amniocentesis isn`t a mass screening technique. This particular involves a few risk to be taken into account and, thus, is performed only in special occasions.
During this medical intervention, the doctor will insert a long, thin needle through the pregnant woman`s abdomen all the way to the uterus, under ultrasound control. He will then extract a small amount of amniotic liquid by using a syringe. This specific procedure is performed under sterile conditions. The extracted fluid is sent to the genetic lab for further analysis. When the procedure is finished, the fetus will be checked.
The Importance of Amniocentesis
- Diagnosis of severe genetic disorders, like Down syndrome, cystic fibrosis, Huntington disease, Edwards syndrome or Tay-Sachs disease.
- Diagnosing an intrauterine infection which may endanger the mother`s or the baby`s health.
- Detecting anencephaly, neural tube defects, assessment of Rh incompatibility, or evaluation of pulmonary maturity in cases of risk of premature birth.
Still, amniocentesis isn`t able to identify all congenital abnormalities. For instance, the splitting of the lip or palate, which doesn`t occur in the context of genetic syndromes, cannot be diagnosed by this test.
What Factors Increase the Risk of Having a Child with a Genetic Illness?
Among the factors that need to be taken into consideration are:
- The results of the tests for Down syndrome: you`ve done a test which shows that your baby has a higher risk of having Down syndrome or other chromosomal issues.
- The results of the ultrasound: an earlier ultrasound screening showed that your baby has structural defects that may be associated with a chromosomal issue.
- The results of parental tests: you and your partner are carriers of the recessive genes of a genetic disease, like sickle cell disease or cystic fibrosis.
- The history of the mother: you were pregnant before and your baby had a genetic malformation, and the risk of repeating the situation is rather high.
- Family history: you or your partner might have a genetic disease or a chromosomal malformation; you may also have family instances which increase the risk of a possible genetic problem in a future child.
- Age of the mother: in theory, any mother may conceive a baby with a chromosomal anomaly, but the risk increase along with the age of the mother. For instance, the probability of giving birth to a baby with Down syndrome may vary from 1 in 1295 cases when you are in your 20s, and 1 in 82 when you are in your 40s.
What Is the Risk of Pregnancy Loss Due to Amniocentesis?
Although it`s often estimated that this particular risk is somewhere between 1 in 200 or 1 in 400, there`s no real consensus on the risk of pregnancy loss due to this screening test. A recent study estimated that the risk is even 1 out of 1666, although some specialists dispute the methodology used to establish this particular indicator.
Due to the fact that a certain percentage of women will lose their pregnancy anyway during the second trimester, there`s no way whatsoever to know for sure whether the pregnancy loss following amniocentesis was caused by the procedure itself. The risk will very much depend on the skill and experience of the doctor performing this particular procedure. – More info!
How Can this Risk Be Reduced?
You should ask your physician to recommend you a specialist with more experience, preferably one with at least 50 such procedures annually. And you should also ask what is the doctor`s or clinic`s rate of pregnancy losses after amniocentesis.
You`ll also need to make certain that there`s an expert in ultrasounds who offers ultrasound assistance throughout the entire procedure. This will greatly improve the physician to get enough amniotic liquid from the very first attempt and not have to repeat the procedure one more time. And when there`s an ultrasound care, it rarely happens for the baby to get injured with amniocentesis needle.
The Risks of Amniocentesis
As any invasive medical investigation, amniocentesis involves certain risks. The pregnant woman needs to be informed about these risks as well as benefits of this procedure before needs to make a decision whether she wants to do the investigation or not.
These risks include:
- Loss of pregnancy (1%);
- Isoimmunization of the mother;
- Membrane rupture.
The signs of complications are:
- Post-procedure bleeding;
- Loss of vaginal fluid;
- Intense pain.
If you have any worries after this procedure, talk to our physician.
Note: If you have a negative Rh, you may be recommended immunoglobulin specific vaccination to prevent Rh incompatibility.
A lot of doctors choose to reevaluate the pregnant woman after 2 to 4 days after the procedure to be certain everything is going normal.
Is There Any Special Preparation Before & After the Procedure?
At the doctor`s recommendation, you may need to take an antibiotic before the procedure to prevent any infection from occurring. If you take anticoagulant, you should stop 2 – 3 days before. There are also situations where the risk of thrombosis is so high that the anticoagulant isn`t stopped, but this is determined before the procedure together with the physician.
After the procedure, it`s recommended rest without any effort whatsoever, without lifting weights, prolonged journeys or long walks. You don`t need to stay only in bed, but rather in a 90 degrees angle. If you experience fever, any amount of amniotic fluid leakage, strong abdominal cramps or any other manifestation that wasn`t been experience before, you should share this information with your doctor. – Visit this link!
When Are the Results Received?
You should get full results after 2 weeks. During this period of time, the amniotic liquid is analyzed in the lab, first being measured the amount of alpha-fetoprotein it contains. This will indicate if an opening is possible in the skin of the baby, which would be a symptom of a neural tube defect, like anencephaly or spina bifida.
In the lab, there are samples taken from the amniotic liquid and living cells of the baby, which are then replicated for 1 to 2 weeks, and then tested for chromosomal abnormalities defection and evidence of certain birth defects. Now you can also find out the gender of your child.
Sometimes, you may get preliminary results while you wait for cell reproduction. For example, in certain cases, there is method known as fluorescence in situ hybridization (FISH) that can be used to select the problems. The preliminary results are quickly available, often in just a couple of days.