What does it mean?
Is there something wrong with my baby?
It is a natural reaction to ask if there is something wrong with the fetus when the maternal serum screening report indicates an increased risk of Down Syndrome. At this point, the only answer that can be given is that there is probably not, but we should consider further assessment. Please note that 96% of women who receive a report are likely to have a normal healthy baby.
What is Down Syndrome?
Down Syndrome is among the commonest chromosome abnormality. Babies with Down Syndrome have an extra chromosome 21. This happens in about 1 in 600 babies. Children born with Down Syndrome have varying levels of intellectual disability and a characteristic appearance. They may also have medical problems involving their heart, bowel and thyroid gland. Some may have problems with eyesight and hearing. With medical treatment and social support, children with Down Syndrome will usually grow up in good health and with a reasonable quality of life.
The meaning of an “increased risk”
We have performed a screening test which is designed to tell if there is a greater than expected chance (an increased risk) of the baby might have a Down Syndrome. The calculated risk is given on the report. It does not mean that your baby definitely has Down Syndrome. It is only a guide stating that the chance is higher than expected. Most laboratories refers to any risk higher than 1:250 as an indication for further confirmatory test.
For example, if the reported increased risk is 1:100, it means that in 99 out of every 100 pregnancies reported like this, the baby will not have Down Syndrome. Only 1 pregnancy out of every 100 reported as Down Syndrome: increased risk (1:100), the baby will actually have Down Syndrome.
Further assessment to confirm the diagnosis
A chromosome analysis of the fetal cells is used to confirm the diagnosis of Down Syndrome. These cells can be obtained via a chorionic villus sampling (CVS) if in early pregnancy or amniocentesis when the pregnancy is between 14-20weeks. This is a diagnostic test and provides a definite answer.
The decision to undertake this test is a personal choice. Your doctor will explain each procedure, the associated risk and implications before you make an informed decision.