A note about DNA, genes and chromosomes
In most cells of your body you have 46 chromosomes arranged in 23 pairs. One chromosome from each pair comes from your mother and one from your father. Chromosomes are made of DNA. DNA stands for deoxyribonucleic acid. It is your genetic material and is found in the nucleus of the cells of your body.
Each of your chromosomes carries hundreds of genes. A gene is the basic unit of your genetic material. It is made up of a sequence (or piece) of DNA and sits at a particular place on a chromosome. So, a gene is a small section of a chromosome. Each gene controls a particular feature or has a particular function in your body. For example, dictating your eye colour or hair colour. Each gene is part of a pair. One gene from each pair is inherited from your mother, the other from your father. Humans have between 20,000 and 25,000 genes altogether.
What is chorionic villus sampling?
Chorionic villus sampling (CVS) is a procedure that is carried out during pregnancy to diagnose or exclude various chromosome or genetic conditions in the unborn developing baby. A very small sample of tissue from a part of the developing placenta called the chorionic villi is taken. The cells of the chorionic villi contain the exact same genetic material (chromosomes and DNA) as the cells of the developing baby. So, tests can be done on the placental tissue in the laboratory to look at the genetic make-up of the developing baby.
CVS is usually carried out by passing a fine needle through the skin of your abdomen and into your uterus (womb) to take the sample of the placenta. This is known as transabdominal CVS. Sometimes, because of the position of your uterus or the position of the placenta, transabdominal CVS may not be possible. CVS can also be performed by passing a fine plastic tube or biopsy forceps through your cervix (the neck of your womb). This is known as transcervical CVS.
CVS is a diagnostic test in pregnancy. In most cases, a diagnostic test tells you for definite whether or not your baby has a certain condition. Contrast this with a screening test in pregnancy (for example, blood tests and/or ultrasound screening tests for Down’s syndrome). Screening tests give you a risk estimate, or the probability, that the baby has a certain condition. They do not give you a definite ‘yes’ or ‘no’ answer. If you have a screening test that shows a high risk of a certain condition, you will usually be offered a diagnostic test.
An alternative diagnostic test to CVS is amniocentesis. Briefly, amniocentesis involves taking a sample of the amniotic fluid inside your uterus, that is surrounding the developing baby. This fluid contains the baby’s cells and so examination of the fluid allows genetic testing of the baby. Amniocentesis is carried out after 15 weeks of pregnancy. (See separate leaflet called ‘Amniocentesis’ which discusses this procedure in more detail.)
The advantage of CVS over amniocentesis is that CVS can be carried out earlier in pregnancy. This means that decisions about how you would like to proceed with the pregnancy can be made sooner. However, there may be a slightly higher risk of complications with CVS (see below).
Why are pregnant women offered chorionic villus sampling?
CVS is not carried out as a routine test in pregnancy. It is offered if you are thought to have an increased chance of having a baby with a certain genetic condition. You are not required to have CVS. It is a choice that you can make. You should discuss the test fully with your doctor, including the potential risks or complications, before you decide whether or not to go ahead.
A common reason for a pregnant woman to be offered CVS is to see if their developing baby has a chromosome disorder such as Down’s syndrome. (Someone with Down’s syndrome has an extra copy of chromosome number 21 in the cells of their body. This causes typical facial and other features. See separate leaflet called ‘Down’s syndrome’ for further details.) A screening test for Down’s syndrome is offered to all pregnant women in the UK. If this screening test shows a higher-risk result, this is a common reason why CVS is offered.
Other reasons why CVS may be offered during pregnancy include:
- If you have previously had a baby with a chromosome or genetic condition.
- If you have, or your partner has, a genetic disorder, or are carriers for a genetic disorder, that could be passed on to the baby. Examples include sickle cell anaemia, thalassaemia, cystic fibrosis or Duchenne’s muscular dystrophy.
- If there is a history of certain genetic conditions in your family.
- If other tests during pregnancy (for example scans) have raised the possibility that the baby has a chromosome disorder such as Down’s syndrome.
- If a baby has an increased risk of a chromosomal disorder because of your age.
At what stage of pregnancy is chorionic villus sampling offered?
CVS is usually carried out between the beginning of the 11th and the end of the 13th week of pregnancy. Most commonly, this is transabdominal CVS carried out between the 11th and 12th weeks of pregnancy. Occasionally, transabdominal CVS is carried out after the 13th week.
Early CVS is CVS that is carried out before 10 weeks. This is not routinely done because there may be an increased risk of complications (see below) and also CVS is difficult to carry out at this stage of pregnancy because the uterus (womb) is still small and the placenta is still quite thin.
How is chorionic villus sampling carried out?
The doctor carrying out the procedure will decide whether transabdominal or transcervical CVS is best in your situation. This will depend on the position of your uterus and the position of your placenta. As mentioned above, for most women transabdominal CVS is done.
If you have not already been tested for HIV and hepatitis B, you will be offered this testing before CVS. You may also be offered testing for hepatitis C. This is so that if you do have one of these infections, the risk of you passing it on to the baby during CVS can be kept to a minimum.
You may prefer to have some support during the procedure. If you feel comfortable about this, consider asking your partner, a friend or a family member to accompany you. The whole procedure will probably take about 10 minutes but your appointment will usually last longer than this because you will need some time to rest afterwards.
First you can expect to have an ultrasound scan similar to other scans during pregnancy. For this, gel is put on the skin of your abdomen and the ultrasound probe is passed over the skin to check the position of the baby and the placenta. The best position to take a sample of placental tissue is found.
Transabdominal CVS is carried out under continuous ultrasound control. This means that throughout the procedure, the doctor performing the CVS holds the ultrasound probe on the skin of your abdomen to allow them to see an ultrasound picture continuously. This allows them to keep a close eye on your uterus, the baby and the position of the needle used to take the sample.
You may be given a local anaesthetic to numb an area of the skin of your abdomen. Once the best position is identified, the skin of your abdomen is then cleaned and a fine needle is passed through your skin, into your uterus and into the placenta. A syringe attached to the end of the needle allows a sample of tissue from the placenta to be drawn (sucked) up into the syringe. An ultrasound scan is usually carried out after CVS to check the baby.
You will first have an ultrasound scan to check the baby and look at the placenta. Transcervical CVS is also carried out under continuous ultrasound control.
A speculum (the same instrument that is used when you have a cervical smear test) is inserted into your vagina so that the doctor can see your cervix (the neck of your womb). They will then clean the inside of your vagina and your cervix with an antiseptic cleansing solution. A fine tube or some fine biopsy forceps are then passed through your cervix, into your womb so that a sample of the placenta can be taken. As before, an ultrasound scan is usually carried out after CVS to check the baby.
What tests are carried out on the placental tissue?
There are two main tests that can be done to look at the baby’s chromosomes. The first is called a rapid test. This usually gives results within three days. It can look for the chromosome disorders Down’s syndrome, Edward’s syndrome and Patau’s syndrome. Sometimes it can detect sex chromosome disorders such as Turner’s syndrome.
The second test is called a full karyotype test. This looks at all of the baby’s chromosomes in detail. It takes longer to get the results of this test, usually two to three weeks. Sometimes only a rapid test is carried out. Your doctor or midwife will discuss with you which tests are best in your situation.
Occasionally, the chromosome test results are uncertain. If this is the case, you may be offered a repeat CVS or an amniocentesis. However, this is rare and in most cases, definite results are possible. There is also a very small chance that the test results for the rapid test are normal but that the full karyotype test shows up a problem. Very rarely, a woman’s full karyotype result may be reported as normal but she will still have a baby born with a chromosome disorder or other problem. This is because some chromosome changes may be so small that they are very difficult to see. CVS cannot exclude all possible disorders.
Also, it should be understood that the chromosome result does not provide information about the physical development of the baby. The fetal anomaly ultrasound scan that is done at around 18-20 weeks of pregnancy can help to look for these physical problems. However, it is also not possible for this scan to show up all abnormalities.
You should ask your doctor or midwife to explain how long it will take for the results of your CVS. You should also ask them how you will receive the results. For example, you may be given another appointment or sometimes results are given by telephone.
Are there any complications of chorionic villus sampling?
Most women who have CVS during pregnancy have no complications. However, CVS does carry some small risks of complications. You need to balance these small risks against having the extra information about the baby and their genetic make-up. Complications can include the following.
There is a small risk of miscarriage with every pregnancy. This is the background risk of having a miscarriage. However, for women who have had CVS, it is thought that there is an additional (or ‘extra’) risk that they will have a miscarriage.
There is also an additional risk of miscarriage after amniocentesis. For women who have had amniocentesis after 15 weeks of pregnancy, there is about a 1 in 100 additional, or extra, risk that they will have a miscarriage. (Out of 100 women who have amniocentesis, 1 will have a miscarriage that they would not otherwise have had.) But, the additional risk of miscarriage after CVS is slightly higher than that for amniocentesis. Many research studies have shown this slightly higher risk after CVS to be about the same for both transabdominal CVS and transcervical CVS.
The reason for this slightly higher risk of miscarriage after CVS compared with amniocentesis may be because CVS is carried out earlier in pregnancy. (There is a greater risk of having a miscarriage earlier in pregnancy regardless of whether you have CVS/amniocentesis or not.) Also, CVS is usually carried out because of suspected problems with the developing baby. Because of these problems, there may be a higher background chance of miscarriage in that pregnancy anyway.
Most miscarriages happen within two weeks of having CVS. A miscarriage after three weeks is less likely. It is not certain why there is a small chance that CVS can lead to a miscarriage. It may be that it is caused by infection, bleeding, or rupture of the amniotic membranes (the bag/sac containing the amniotic fluid that surrounds the baby) caused by the procedure.
Ask your doctor what the miscarriage rate is for CVS in the unit where you will be treated. The chance of miscarriage may be slightly lower if CVS is carried out by someone who is very experienced at the procedure.
Infection is another complication that can rarely occur after CVS. Less than 1 in 1,000 women who have CVS will develop a serious infection. Infection can be caused by a number of things. For example, in transabdominal CVS:
- By injury to your bowel with the needle used so that germs that are normally contained inside the bowel escape.
- By germs that are present on the skin of your abdomen travelling along the track of the needle into your abdomen or womb.
- By germs that are present on the ultrasound probe or in the ultrasound gel travelling along the track of the needle into your abdomen or womb.
And in transcervical CVS, infection may be possible if germs enter with the biopsy forceps or fine tube that is passed through your cervix. Symptoms of infection can include fever, tenderness of your abdomen and contractions of your womb. However, infection is very unlikely if correct procedures to reduce infection are followed.
Limb abnormalities in the developing baby
Back in the 1990s concern was raised after a small study reported that five babies had limb abnormalities such as missing fingers and toes after their mother had CVS. However, in all cases CVS was carried out before 10 completed weeks of pregnancy. Also, later studies showed that the risks of such problems after CVS were no higher than the risk in the general population (i.e. in those pregnancies where the woman had not had CVS).
Still, CVS before 10 completed weeks of pregnancy is now not recommended. This is because of the theoretical risk that a temporary interruption to the supply of blood to the baby when the placental cells are taken may lead to limb and other defects and also because of the fact that CVS is more difficult to carry out at this stage of pregnancy (as described above).
Rhesus disease in the developing baby
If your blood group is rhesus negative and the baby’s blood group is rhesus positive, there is a risk that you may develop antibodies against the baby’s blood cells after CVS. These antibodies can attack the red blood cells of the baby. The baby can develop anaemia, jaundice and in severe cases, death of the baby can occur. So, if you are rhesus negative, you will be advised to have a special injection with anti-D immunoglobulin to help to prevent this.
How can I expect to feel after chorionic villus sampling?
The procedure itself can be a little painful. Many women describe the discomfort as being a bit like period pain. Some describe having a transcervical CVS as feeling a bit like having a cervical smear test.
It is best if you can arrange for someone to drive you home after the CVS if possible. You should also take things easy over the subsequent few days but total bed rest is not necessary. Some mild, period-like cramping abdominal pains with a small amount of light spotting of blood from your vagina can be normal immediately after CVS. Paracetamol can be taken to help the pain.
However, if you develop any of the following, you need to seek medical advice immediately as they may be signs of complications: severe abdominal pain; contractions; persistent back pain; continuous bleeding from your vagina; a watery fluid loss from your vagina; a smelly discharge from your vagina; fever; Flu-like symptoms.
What are my choices if the results are abnormal?
Deciding to have CVS can be a very difficult decision and a very anxious time. However, most women who have a CVS will have a normal result. That is, the baby won’t have the genetic problem that the test was looking for. But, before you go through CVS, it is important for you to think through carefully what difference an abnormal test result would make to you. How would it be likely to affect your decision about whether or not to continue with the pregnancy?
Once you know the results, and if the results show a problem, you need to make a decision about what is best for you and the baby. This decision may be very difficult to make. You may find it helpful to talk things through with your GP, your midwife, your obstetrician, a paediatrician, a genetic specialist, a counsellor, etc. You may also wish to talk things through with your partner or family where possible.
There is still time to terminate the pregnancy (have an abortion) after CVS if you choose to. An advantage of CVS is that you usually get the results earlier in the pregnancy. This means that if you do choose to terminate the pregnancy, it is likely that you will just need a minor operation to remove the contents of your uterus. If you have an amniocentesis (which is done later) and choose to end the pregnancy at a later stage, this may mean an induced labour. However, in either case, the type of termination will depend on how many weeks pregnant you are when you decide to end the pregnancy. You should discuss this with your doctor or midwife.
Equally, if the results of CVS do show a problem, you may choose to continue with the pregnancy. With the knowledge of the results, you can start to prepare for the birth and care of the baby who is likely to have special needs. The baby may need special care immediately after they are born. For example, they may need surgery or some other procedure. Prior knowledge that the baby has a certain condition means that you can plan to give birth in a hospital where all of the appropriate facilities are available.
In rare situations, CVS may show that the baby has a condition that is treatable. Occasionally, there may be the possibility that treatment can be given while the baby is still in your womb.
Further help and information
ARC (Antenatal Results & Choices)
73 Charlotte Street, London W1T 4PN
Helpline: 0207 631 0285 Web: www.arc-uk.org
Offers information and support to parents going through antenatal testing.
Down’s Syndrome Association
Langdon Down Centre, 2A Langdon Park, Teddington, Middlesex TW1 9PS
Helpline: 0845 230 0372 Web: www.downs-syndrome.org.uk
A national charity working exclusively for people with Down’s syndrome and their families.
References and Disclaimer | Provide feedback
- Amniocentesis and Chorionic Villus Sampling, Royal College of Obstretricians and Gynaecologists (June 2010)
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- von Dadelszen P, Sermer M, Hillier J, et al; A randomised controlled trial of biopsy forceps and cannula aspiration for transcervical chorionic villus sampling. BJOG. 2005 May;112(5):559-66. [abstract]
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- NHS Fetal Anomaly Screening Programme; Chorionic villus sampling (CVS) and amniocentesis information for health professionals. July 2009.
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- Alfirevic Z, von Dadelszen P; Instruments for chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev. 2003;(1):CD000114. [abstract]
- Pregnancy (rhesus negative women) – routine anti-D (review); Pregnancy (rhesus negative women) – routine anti-D, NICE Technology Appraisal (August 2008)