Chorionic Villus Sampling (CVS)

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Maternity

    Chorionic Villus Sampling (CVS)
    Fetal Medicine Unit
    Introduction
    Every year women have a CVS performed. Not all women need it, but for the ones
    that do, it means putting themselves and their pregnancy on hold for what might
    seem a lifetime.
    The purpose of this booklet is to provide you with the facts and information about
    CVS so that you and/or your partner will know what to expect from this test. The at
    back of this booklet there is a small section of medical terms that you may find helpful
    and there are pages for you to jot down questions which you might like to ask at your
    visit.
    We would be very grateful to hear your views and comments about your care on the
    FMU (Fetal Medicine Unit). If you wish to have any further information contact:
                               Specialist Midwife
                               Fetal Medicine Unit
                               Liverpool Women’s Hospital
                               Crown Street
                               Liverpool
                               L8 7SS
                               Tel: 0151 702 4072

    Appointments
    When you attend for your appointment please report to the FMU reception desk.
    This can be found on the ground floor opposite the Antenatal Clinic
    Staff in the FMU
    Who will you meet?
    Consultants in Fetal and Maternal Medicine
    Specialist Midwives
    Health Care Assistant.

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Other staff you may meet
    Several other people are involved with your care on the unit and each one has a very
    important role.
    If you have a query about your appointment please do not hesitate to contact the
    FMU on 0151 702 4072. The consultants on the unit work with senior registrars who
    are training in fetal medicine and during your visit you will meet them. Sometimes
    student midwives and medical students will join them. If you have any concerns
    about them being present, please let us know.
    What is CVS?
    CVS means the removal of the ‘finger-like projections which surround the embryonic
    sac in early pregnancy. Their function is to form the placenta. A small amount of villi
    are removed which causes no harm to the baby. This will allow both a direct culture
    and a long term culture to be established. It can be performed as early as 11 weeks.
    Benefits of having CVS
    There are many reasons for having a CVS performed. However, the most common
    reason is to detect whether a baby has a chromosomal or genetic disorder. The
    intended benefit of having a CVS is that you will be informed as to whether the
    baby’s chromosomes are normal or not. The benefit of having CVS is that it can be
    performed early in the pregnancy, i.e. 11-13 weeks into the pregnancy.
    What alternative do I have?
    Alternatively amniocentesis (see separate leaflet) can be performed at approximately
    16 weeks into the pregnancy. You may choose not to have any invasive test and
    wait for the baby to be born.
    Does having a CVS hurt?
    Women frequently ask this question. Everybody’s threshold of pain is different. It is
    true to say however that most women find the test ‘uncomfortable’. Some say it is
    like having a blood test.
    How is the test done?
    The abdominal route
    This is the usual route taken. You don’t necessarily need to have a full bladder. The
    doctor will first perform an ultrasound scan to measure your baby and find where the
    placenta (afterbirth) is situated. Before the test your skin is cleaned with antiseptic
    wipes and then the procedure begins. Local anaesthetic is used to numb the skin.

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A sterile plastic pot containing pink liquid to transport the tissue to the laboratory is
    labelled with your name, date of birth, address and hospital number. The details are
    checked with you.
    Ultrasound is used to see the needle and guide it into the placenta through your
    tummy. The sample is obtained with a gentle suction and movement technique. The
    doctor will check the sample under a microscope. If there is not enough then he will
    take some more tissue.
    The Transcervical route
    This route is used occasionally when the abdominal route is not accessible. This
    method is very similar to have a smear and isn’t too uncomfortable. First an
    ultrasound scan is performed to locate the position of the placenta. After this you will
    lie flat on your back with your knees apart. To help reduce the risk of infection, the
    doctor will clean inside and around the vaginal area with antiseptic. Then a
    speculum, a very small metal object that holds the vaginal walls apart, is inserted into
    the vaginal so that the next of your womb (cervix) can be seen. Next a fine plastic
    tube is placed into the vagina and cervix to take a sample of the placenta. On
    reaching the placenta small pieces are gently sucked out with a syringe. The plastic
    tube is taken out and the sample looked at under a microscope. If there is
    insufficient tissue, the test is repeated. When the test is finished, the sample us sent
    to the laboratory.

    Your Sample
    This will be looked at by the Regional Genetics Laboratory. The tissue is broken into
    single cells. The cells are grown in culture and then looked at by one member of the
    team and checked by another Senior Scientist. The result is interpreted and a report
    faxed to the FMU. The slides from the sample will be stored as an internal quality
    control measure until after the baby is born. In rare circumstances, where the
    consultants feel it is necessary the cells may be stored longer. Otherwise, following
    investigation, the tissue will be disposed of in accordance with health and safety. If a
    DNA test for a specific genetic disorder is required, DNA will be prepared from the
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tissue and the appropriate tests carried out. The results will be checked by a Clinical
    Scientist and a report will be faxed to the FMU or Clinical Genetics Department.
    DNA from the sample will be stored in the laboratory for 10 years for quality
    assurance purposes and may be used as a cross reference for future pregnancies.
    How long do the results take?
    For chromosomal analysis
    In the majority of cases a rapid preliminary test called QF-PCR is performed on the
    genetic material (DNA) from the sample. This detects 80% of all chromosome
    abnormalities (Downs, Edwards and Patau syndromes and sex chromosomes
    abnormalities). The results should be available within 4 working days.
    In order to look for any remaining detectable abnormalities, cells from your sample
    will be grown in culture and slides prepared. The results from this test will be
    available within 3 weeks from having the CVS. There are some genetic or
    chromosomal conditions that cannot be detected by these texts.
    The slides from this sample will be stored as an internal quality control measure for 5
    years.
    Otherwise, following investigation, the cells will be disposed if in accordance with
    health and safety.
    For specific genetic condition
    The length of time will vary according to the required test.
    Possible complications
    Here at the Liverpool Women’s NHS Foundation Trust, the chance of a miscarriage
    following a CVS is similar to amniocentesis (0.5 - 1%, < 1 in 100). It can be difficult
    to say whether a miscarriage is due to the test or would have happened anyway.
    Other possible causes can be infection, the waters breaking, and the womb
    becoming irritable.
    Reliability
    CVS is 98% reliable for diagnosing chromosomal abnormalities with only a small
    change of a wrong result. DNA based tests are more than 99% reliable.
    Culture failure
    This occurs in 1% of cases and can either be due to: Fetal cells not growing; fetal
    cells that start to grow and then stop; a different type of cell growth (mosaicism); or
    maternal cells growing instead.

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In any of these situations you will be contacted and told of the problem and several
    options will be discussed with you.
    These are:

          Have CVS again

          Have an amniocentesis

          Do nothing at all
    CVS Results: The results are sent to the FMU by fax.
    Rapid Test Results: You will be asked how you wish to receive them.
    Full culture tests: The specialist midwife will inform you of the preliminary results
    (PCR) by telephone and if the final results are normal we will contact you by 1st
    class letter. If the results are abnormal we will contact you by phone as it is
    necessary to speak to you as soon as possible to discuss the result in depth.
    Culture Failure
    The Specialist Midwife will notify you by telephone to discuss the matter. You may
    want another test and so another appointment can be arranged for you.
    Some general advice
    After the test you will be taken to a counselling room to rest before going home.
    Take things easy for the next couple of days and try to avoid household chores that
    involve lifting, bending and stretching. Some ladies experience lower abdominal
    discomfort within the 24 – 48 hours following the procedure. This can be expected
    because of the procedure and can be relieved by taking Paracetamol.
    If you experience any of the following symptoms you should contact the Gynaecology
    Emergency Room at Liverpool Women’s Hospital or your referring hospital for further
    advice.

          Vaginal spotting of blood/bleeding like a period

          Develop a temperature

          Feel unwell

          Loss of fluid from the vagina.

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Support Groups and useful addresses
    The Alder Centre                                Down’s Syndrome Association
    Alder Hey Children’s Hospital                   155 Mitcham Road
    Eaton Road                                      London
    Liverpool                                       SW17 9BR
    L12 2AP                                         CLAPA (Cleft Lip and Palate
    Tel Daytime: 0151 228 4811                      Association)
    Tel Daytime: 0151 228 4811                      Dental Department
    Tel Evening: 0151 288 9759                      The Hospital for Sick Children
    (19:00 – 22:00 hrs)                             Great Ormond Street
    Offers support and understanding                London
    to anyone who has experienced                   WC1 0EP
    the death of a child.                           Tel: 0171 388 1382

    The Miscarriage Association                     SANDS (Stillbirth and Neonatal Death
    c/o Clayton Hospital                            Society)
    Northgate                                       28 Portland Place
    Wakefield                                       London
    West Yorkshire                                  W1 4DE
    WF1 3JS                                         Tel: 0171 436 5881
    Tel: 01924 200799

    CRUSE (Care for the Bereaved)                   ARC (Antenatal Results and Choices)
    Cruse House                                     73-75 Charlotte Street
    126 Sheen Road                                  London
    Richmond                                        W1 1LB
    Surrey                                          Tel: 0207 631 0285
    TW9 1UR
    Tel: 0181 940 4818

    Medical Glossary
    Some common terms used in this booklet.
    Fetus – The developing baby in the womb.
    Chromosomes – Thread-like structures in a cell which carry the blueprint or genes
    that give people their characteristics.
    Gene – A single unit of inherited characteristic situated in a chromosome.
    Placenta – Also known as the ‘afterbirth’, this is a unique organ in the womb that
    supplies the baby with nourishment and the removal of waste products.

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Amniotic fluid – Also called liquor, this is the fluid that surrounds the baby.
    Amniocentesis – Puncture of the amniotic sac and the removal of the fluid from
    around the developing baby for testing.
    Ultrasound scan – A way of creating an image of the fetus by the use of high
    frequency sound waves which are beyond the range of human hearing.
    Soft ‘markers’ – Uncommon features seen on scan that can be seen in healthy
    babies, but more commonly in babies with chromosomal abnormalities (e.g. Down’s
    syndrome).
    Chorionic Villus Sampling (CVS) – The removal of small fragments of placental
    tissue.
    Cordocentesis – Taking a blood sample from the cord before birth with the use of a
    needle.
    Miscarriage – The loss of the baby before 24 weeks gestation.
    Genetics – The study of human inheritance.

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