Edwards' syndrome (trisomy 18 or T18) information for ... - Library

Screening ProgrammesFetal AnomalyEdwards’ syndrome(trisomy 18 or T18)information for parentsInformation sheet to help pregnantwomen understand more aboutEdwards’ syndrome (also calledtrisomy 18 or T18).Edward’s syndrome (Trisomy 18 or T18) information for parents WP_T18_V1 June 2009 1

What is T18?This rare genetic chromosomal disorder occurs when a baby has three copies of chromosome 18, rather than theusual two. It is also referred to as trisomy 18 or Edwards’ syndrome.There are three types of the syndrome:• Regular (severe) – this is when every cell in the body has three copies of chromosome 18 and accounts for94% of cases.• Mosaic (less severe) – this is when some cells have the usual two copies and some have three copies ofchromosome 18. The extent and severity of the condition will depend on how many cells have the extracopy of chromosome 18, but includes learning difficulties.• Partial – this is when there is an extra copy of only a part of chromosome 18. The effects of this may bemilder but include learning difficulties.An amniocentesis or CVS will tell you which type of Edwards’ syndrome your baby has.The regular or severe forms of the condition means your baby will have abnormalities of the heart, kidneys, brainand bowel. These children will usually also have profound difficulties and require full time care. They are rarelyable to speak, feed themselves, or walk. Infants with this condition often have a small head with characteristicfacial features including a small jaw and mouth, upturned nose and low set ears.How is it confirmed?Signs that the baby may have Edwards’ syndrome are picked up at the routine 18 +0 − 20 +6 weeks’ fetal anomalyscan. The blood test for Down’s syndrome can also suggest the condition is present in approximately 50% ofcases. It can only be confirmed by CVS or amniocentesis.What other tests will be offered?You may be offered CVS or amniocentesis to confirm the diagnosis and the type of Edwards’ syndrome. Once adiagnosis is confirmed you will have the opportunity to discuss whether you wish to continue with the pregnancyor choose to end the pregnancy.Is there any treatment?There’s no cure for Edwards’ syndrome, but we can treat some of the symptoms.What is the outlook for the baby?The majority of babies with the syndrome die before birth. After birth, 50% of infants with the full form die within 1month. Only 10% of babies born with the condition will survive to one year. Few survive beyond their first year.Those affected by the mosaic and partial forms may survive to adulthood. Physically, the baby will not developnormally and may have bone abnormalities, heart defects and breathing problems. These children will usually alsohave profound learning difficulties and require full time care. They are rarely able to speak, feed themselves, or walk.2Edward’s syndrome (Trisomy 18 or T18) information for parents WP_T18_V1 June 2009

How common is it?Edwards’ syndrome occurs in around 1 in 3000 - 6000 births.How likely is it to happen in a future pregnancy?You are much more likely to have a normal, healthy baby in your next pregnancy than to have another babyaffected with Edwards’ syndrome. There is no way of preventing Edwards’ syndrome. Genetic counselling isgenerally offered to inform parents of the risk of having another child with the same condition. For regularEdwards’ syndrome, the recurrence risk is around 1%.What happens next?You will be given the chance to talk to specialists about what having a baby with this condition might mean toyou and your family. After having time to think about it, some women choose to continue with their pregnancyand do all they can to prepare for having a baby with this condition. Others may choose not to continue with thepregnancy. You will be offered a termination of pregnancy. Whatever you decide, your decision will be respectedand you will be supported by your midwife and doctor.Where can I get more information and support?You may feel you only want to talk to your partner, family members or a particular doctor or midwife from thehospital. However, there are a lot of other people and organisations that can provide information, help you makeyour decisions and support you in your pregnancy and after it. Some are listed below. You can also talk thingsthrough with the hospital chaplain or your own faith leader.Useful websitesAntenatal Results and Choices (ARC)73 Charlotte StreetLondonW1T 4PNTel: 0207 631 0285Email: info@arc-uk.orgWebsite: www.arc-uk.orgAntenatal Results and Choices (ARC) provides impartial information and individual support to parents whetherthey are going through antenatal screening or whose unborn baby has been diagnosed with an abnormality.Contact a Family (CAFAMILY)209 to 211 City RoadLondonEC1V 1JNTel: 0808 808 3555Email: info@cafamily.org.ukWebsite: www.cafamily.org.ukContact a Family is a charity which provides support, advice and information for families with disabled children,no matter what their condition or disability.DIPExPO Box 428WitneyOxonOX28 9EUEmail: info@healthtalkonline.orgWebsite: www.healthtalkonline.org &www.youthhealthtalk.orgDIPEx has created a unique database of personal and patient experiences through in-depth qualitative researchinto over 40 different illnesses and health conditions. The results of their research are published on two websiteswhich are aimed at patients, their carers, family and friends, doctors, nurses and other health professionals. Theirtarget is to complete at least 100 conditions within the next 5 − 10 years.Edward’s syndrome (Trisomy 18 or T18) information for parents WP_T18_V1 June 2009 3