Understanding amniocentesis, everything you need to know.
What is an amniocentesis?
Amniocentesis is a diagnostic procedure performed during pregnancy. It helps to obtain a small sample of amniotic fluid (the fluid around the baby) which in turn is used for the diagnosis of certain genetic conditions or infections.
Why should I have an amniocentesis?
An amniocentesis is not a routine test. Your doctor may offer you an amniocentesis if there are concerns about specific genetic conditions. The following are typical examples;
1. The one most widely known genetic problem is Down’s syndrome. A number of screening tests are available to help parents and doctors determine the risk of a pregnancy being affected before deciding for an amniocentesis.
2. In some cases, the test is done to exclude known genetic problems that run in the family.
3. Routine ultrasound scans on occasions pick up certain features of the baby associated with genetic conditions.
4. Some parents want to be certain that their baby is not affected by a certain disorder.
An amniocentesis may also be offered to check whether an infection has passed from mother to the baby.
How is an amniocentesis done?
The procedure is usually done after week 15 of your pregnancy. The doctor will thoroughly explain the procedure to you and get to sign an informed consent.
Your blood group will be checked, your HIV and HepB status. If you are Rh Negative, you will need an injection of Anti-D after the procedure. If you are HIV or Hep-B positive having the procedure may increase the risk of passing the infection to the baby.
Usually, the doctor will perform before the amniocentesis an ultrasound scan to examine the baby and identify the best window for the procedure.
The doctor will clean your tummy with an antiseptic solution. A small amount of local anaesthetic will be used to numb the skin where the needle is to be inserted. A thin needle is used for the local anesthetic; you might find this a bit uncomfortable.
Following the local anaesthetic and under direct ultrasound guidance, the doctor will pass a fine needle through your tummy into your womb and the fluid around the baby.
The doctor’s assistant using a syringe will obtain about 15mls of this fluid. The baby will not miss this fluid and will replace it in a few hours. As a very fine needle is used, it takes a few seconds to take the sample.
At the end of the procedure, the doctor will remove the needle.
Most women find the whole procedure uncomfortable rather than painful. On occasions, you might experience mild period-like pains. This not uncommon and simple paracetamol is very helpful.
In some occasions, not enough fluid is obtained with the first attempt. This is usually due to the position of the baby. In this case, the doctor may have to reinsert the sampling needle.
What information will I get from an amniocentesis?
This will depend on why the amniocentesis was performed.
In most cases, the aim is to examine the baby’s karyotype (genetic information).
Within the fluid withdrawn, some cells come off the baby’s skin. These cells (unlike our outer skin cells) are alive and can be cultured in the lab. After they are cultured to increase their number and get most of them to start multiplying, using special techniques, the geneticist will look at these cells under the microscope.
The karyotype is a snapshot of the baby’s chromosomes. The geneticist will count their number (they should be 46) and examine their morphology (how they look). Usually, due to the time, it takes to culture the cells, this test is ready in 14 days from when it reaches the lab.If more specialized genetic tests need to be performed, it might take longer. The doctor should be able to let you know of the approximate time before the test is done.
Rapid tests that only look at specific chromosomes in a small number of cell s (FISH- PCR) are available. These tests usually take 48h after the fluid reaches the lab. Our advice to all is to have the full karyotype in addition to the rapid tests. These tests in the vast majority of cases will give a definitive answer whether the baby is affected or not from the disorder you were testing for.
Please note the following;
• The amniocentesis will give a result for a specific condition. It does NOT guarantee that the baby does not have other genetic disorders.
• Rarely while an amniocentesis was performed to exclude one problem, it picks up another unexpected one. Your doctor, sometimes with the help of a geneticist, will help you to understand the results and their implications for your baby.
• Rarely (less that 1/100) the cells do not grow well in the lab and the amniocentesis cannot give a result. A repeat amniocentesis may be necessary.
What are the risks for my pregnancy?
Unfortunately, the amniocentesis is not without risks. It is generally quoted that there is a risk of 1%of having a miscarriage as a result of the test. In our experience, this risk has been much smaller (about 0.5%). In a small number of cases (1:1000), a serious infection might develop. You should carefully consider these risks against the value of the information you seek to get from an amniocentesis.
How will I get my results?
Our doctor or our specialist midwife will call you to let you know of your results. You will also receive a hard copy of the report for your records.
What if my results are abnormal?
Although in most of the cases, the results will come back as normal, there will be those that are going to be affected by the condition we were testing for. Our doctors will call you to let you know that the results are not normal and ask you to come to the hospital and explain to you the results and what they mean for your pregnancy and your baby. This can be a stressful experience, and you might find it helpful to have your partner with you.
You should be aware that a termination of pregnancy is only allowed in exceptional cases at the UAE. Getting authorization can be a lengthy process.
We hope you will find this information useful. If you have any questions, you can contact our clinic for a consultation with one of our Fetal Medicine Specialists.