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. 1
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. 2
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 3
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. 4
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. 5
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. 6
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. 7
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