|
|
|
|
|
|||||
Cash Counts makingcontact.org
Subscribe to the Contact a Family Directory 
This site complies with the HONcode standard for trustworthy health information: verify here.
Edwards syndrome
Inheritance patterns and prenatal diagnosis
Inheritance patterns
Edwards syndrome usually occurs sporadically, therefore it is extremely unlikely that parents will have more than one pregnancy affected by Edwards syndrome. In rare cases, a balanced translocation in a parent can give rise to an unbalanced translocation in their child. This situation is detected on the baby’s karotype.
Prenatal diagnosis
Women may be offered either a combined blood test and scan between 12 to 14 weeks into a pregnancy or a ‘quadruple’ blood test between 15 to 20 weeks. These tests are designed to detect Down syndrome and are not routinely reported for the risk of Edwards syndrome in some areas of the UK. They can, however, lead to a chorionic villous sample or amniocentesis, which diagnoses Edwards syndrome.
Routine ultrasound scanning at 18 to 20 weeks can detect physical features of Edwards syndrome in over 70 per cent of cases. If an ultrasound scan suggests a high risk of a chromosome problem, a definitive genetic test to look at the baby’s chromosomes will be discussed.
How is it treated?
| Is there support? 
