Trisomy 18
Testing for Edwards' syndrome during pregnancy
Pregnant women are offered screening for Edwards syndrome between 10 and 14 weeks of pregnancy to assess the chances of their baby having the condition.
The screening test, known as the combined test, comprises a blood test plus a nuchal translucency ultrasound scan (nuchal translucency is a collection of fluid at the back of the baby's neck). This test also screens for Downs syndrome and Pataus syndrome.
The diagnosis can be confirmed by carrying out chorionic villus sampling or amniocentesis . These areinvasive tests performed during pregnancy to remove a sample of tissue or fluid so it can be tested for the presence of the extra copy of chromosome 18.
A newer test has also been developed that can be performed by taking a sample of blood from the mother and testing the babys DNA that is found within it. This is known as "non-invasive prenatal diagnosis" and is only available privately.
Treatment will focus on immediately life-threatening issues, such as infections and heart problems. Your childmay also need to be fed through a feeding tube, if feeding is a problem.
If limb abnormalities affect your child's movements as they get older, they may benefit from supportive treatment, such as physiotherapy and occupational therapy .
Depending on your child's specific problems, they may need specialist care in hospital or a hospice, or you may be able to look after them at home with appropriate support.
Medically Reviewed by a doctor on 21 Dec 2018
Introduction
Edwards' syndrome, also known as trisomy 18, is a serious genetic condition caused by an additional copy of chromosome 18 in some or all of the cells in the body.
What are the features and symptoms?
Babies with Edwards' syndrome can have a wide range of different problems. Physical signs of Edwards' syndrome include: a small, abnormally shaped head a small jaw and mouth long fingers that ove
How does Edwards' syndrome happen?
Edwards' syndrome is rarely inherited and the condition is not caused by anything the parents have done. The development of three copies of chromosome 18 usually happens randomly during the formation
Types of Edwards' syndrome
There are two main types of Edwards' syndrome. Full form Approximately 94% of babies with Edwards' syndrome will have thefull form, where every cell in their body has three copies of chromosome 18,
Testing for Edwards' syndrome during pregnancy
Pregnant women are offered screening for Edwards syndrome between 10 and 14 weeks of pregnancy to assess the chances of their baby having the condition. The screening test, known as the combined test
Information about your child
If your child hasEdwards' syndrome, your clinical team will pass information about him or her on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps scient
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