Your Unborn Baby
Your Unborn Baby was written by SOFT UK to provide a basis for discussions between you and your medical advisers. It explores the issues confronting parents after a prenatal diagnosis of trisomy 13 (Patau's syndrome) or trisomy 18 (Edwards' syndrome).
You won't find any recommendations for particular methods of treatment as these should always be done in consultation with your doctor and other clinicians. But you will find plenty of information to help you towards making informed choices for you and your family.
Your Unborn Baby was compiled by Rachel Attwell, Jenny Robbins, and Christine Rose, with the help of SOFT medical advisers and families affected by trisomy 13/18 who have shared their own personal experiences.
There are 22 pairs of chromosomes, numbered 1-22 in order of size, and a pair of sex chromosomes, XX in females and XY in males, making a total of 46 chromosomes in each normal human cell.
The tri in the word trisomy means three. In each cell there is one set of three identical chromosomes among the normal pairs.
Various related disorders are explained.
Genetics is the study of human cells, and a Clinical Geneticist will interpret the results of chromosome tests taken from blood, skin, bone marrow, or connective tissue. When tests during pregnancy have shown a chromosome abnormality the clinical geneticist, if consulted, will discuss the results with the family.
All pregnant women are offered screening tests, such as scans and/or blood tests, to assess the chance of a chromosomal abnormality in the baby. These tests are non-invasive and so do not have any risk to the baby. Screening tests can indicate if a pregnancy is in a low or high risk category, but do not give a definite result.
At present the only way during pregnancy to obtain definite information about a baby's chromosomes, (i.e. to rule out or confirm a chromosome abnormality), is by a diagnostic test, e.g. amniocentesis, chorionic villus sampling (CVS), or cordocentesis.
When trisomy 13 or 18 is diagnosed during pregnancy, full information about the condition may not be available immediately. Parents are given the choice of continuing or terminating the pregnancy.
Termination is not an easy option. It is traumatic and sad. The grief and emotional pain can be overwhelming, and couples should have time to talk through the details of the termination and discuss any fears, questions,or special requirements.
Continuing with the pregnancy of a baby with trisomy 13 or 18 means one of several outcomes: