Having a child with Edwards' syndrome (trisomy 18) | NHS

Edwards' syndrome, also known as trisomy 18, is a rare but serious genetic condition caused by an extra copy of chromosome 18 in some or all of the body's cells. This extra genetic material disrupts normal development.

Edwards' syndrome can be diagnosed during pregnancy through screening tests such as a combined test at 11 to 14 weeks, a quadruple test at 15 to 20 weeks, or a non-invasive prenatal test (NIPT). Confirmation can be done through diagnostic tests like amniocentesis or chorionic villus sampling (CVS).

Symptoms of Edwards' syndrome can include severe developmental delays, congenital heart defects, gastrointestinal abnormalities, and distinctive facial features. Babies may have low birth weight and grow more slowly.

The life expectancy for children with Edwards' syndrome is significantly shortened. Many babies with the condition die before or shortly after birth. Those who survive beyond infancy often have severe medical and developmental issues.

There is no cure for Edwards' syndrome. Treatment typically focuses on managing symptoms and providing supportive care, which may include medical interventions, physical therapy, and support for families.

Edwards' syndrome is usually not inherited. It is typically caused by a random error in cell division that results in an extra chromosome 18.

Support for families may include medical care teams, genetic counseling, palliative care services, support groups, and organisations like SOFT UK that provide resources and support for those affected by trisomy conditions.

Edwards' syndrome occurs in about 1 in 5,000 live births. It is more common in pregnancies that do not come to term.

Yes, Edwards' syndrome can often be detected before birth through screening tests and confirmed through diagnostic tests.

The most significant risk factor for Edwards' syndrome is advanced maternal age. The likelihood of having a baby with this condition increases as a woman gets older.

Screening tests estimate the likelihood of the fetus having Edwards' syndrome, while diagnostic tests provide a definitive diagnosis by examining the baby's chromosomes.

Edwards' syndrome can have a profound emotional, physical, and financial impact on families. Support from healthcare professionals, family members, and support organisations can be crucial.

There are no prenatal treatments that can correct the genetic abnormalities of Edwards' syndrome. Care focuses on monitoring the pregnancy and planning for delivery and postnatal care.

Most children with Edwards' syndrome have severe developmental delays and physical disabilities. Those who survive the first year may have complex healthcare needs and require ongoing medical support.

You can connect with other families through support groups, online forums, and charities like SOFT UK, which provide information, support, and community connections for families affected by trisomy conditions.