What is Edwards syndrome?

What is Edwards syndrome? Edwards syndrome is a genetic condition in babies that causes severe disability. It is caused by an extra copy of chromosome 18 and babies born with the condition usually do not survive for much longer than a week.

healthdirect.gov.au - Edwards syndrome (Trisomy 18) - Healthdirect

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What is Edwards syndrome?

Edwards syndrome is a genetic condition in babies that causes severe disability. It is caused by an extra copy of chromosome 18 and babies born with the condition usually do not survive for much longer than a week.

How does Edwards syndrome happen?

Children with Edwards syndrome have 3 copies of part or all of chromosome 18, instead of the usual 2 copies. It is also called Trisomy 18. This can be caused by a mistake in the formation of the egg or sperm, or the problem can arise while the baby is developing in the womb. Babies with Edwards syndrome are either miscarried, stillborn or born with severe physical abnormalities. It is very rare for a baby with Edwards syndrome to survive their first year of life, and most die within a week of birth.

Edwards syndrome is much more common in girls.

What are the symptoms of Edwards syndrome?

Babies with Edwards syndrome may have:

low birth weight

small head and jaw

an unusual-looking face and head

unusual hands and feet with overlapping fingers and webbed toes

problems with feeding, breathing, seeing and hearing

How is Edwards syndrome diagnosed?

Edwards syndrome can be suspected or even diagnosed during pregnancy.

Sometimes the possibility of Edwards syndrome is raised after the 11 to 13-week tests (usually a pregnancy ultrasound and blood test). It is also possible to screen for Edwards syndrome through non-invasive prenatal testing (NIPT), which is a blood test taken from 10 weeks of pregnancy. But the only definite way to diagnose Edwards syndrome is through genetic testing. This can be done while the baby is in the womb using chorionic villus sampling (CVS) or amniocentesis. Both these tests have a risk of miscarriage. You can talk to your obstetrician or midwife about this. Sometimes, Edwards syndrome is not suspected during pregnancy, and is only discovered when the baby is born.

Visit Pregnancy, Birth and Baby website for more information on prenatal screening.

How is Edwards syndrome treated?

There is no effective long-term treatment for babies with Edwards syndrome. Parents in this situation face a very hard choice. They can choose to try to keep their babies alive in the neonatal intensive care unit. Or they can choose to have their baby receive palliative care until he or she dies. Visit our genetic disorders guide to learn more about genes, types of genetic disorders and where to go for help and more information.

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