Down’s syndrome is the most common chromosomal condition and affects approximately 1 in 750 babies born each year. Although there have been numerous studies to find the cause there remains no definite answer.
Risk Factors that Indicate a Need for Down’s Syndrome Screening
While no exact cause for the chromosomal disorder which is attributed to having an extra 21st chromosome, 3 instead of the usual 2; there are risk factors that can increase your baby’s risk of being born with Down’s syndrome.
You should talk to your doctor about the need for Down’s syndrome screening if you are age 35 or over or if you have a family history which includes Down’s syndrome.
Down’s syndrome Screening Tests
If you fall in the risk factors for Down’s syndrome you can elect to have noninvasive screening done. This screening can indicate if your baby is at risk of having Down’s syndrome. These screenings are not 100% accurate however and sometimes give false negative or false positive results.
In the first trimester a blood test and a fetal ultrasound can help identify signs. The ultrasound can help to visualize thickness at the back of the baby’s neck which is called a nuchal fold and indicates Down’s syndrome.
In the second trimester blood tests; triple and quadruple screen can measure substances in your blood to estimate the chance that your baby might have Down’s syndrome.
If You Have Abnormal down’s Syndrome Screening Results
In the event that the screening gives positive results or you still have concerns after screening, your doctor may elect to do more testing. A more reliable test is a karyotype test. This type of testing has more risks than screening tests but it can give a definitive answer regarding Down’s syndrome.
In the first trimester a chorionic villus sampling is done. The doctor will take cell samples from the placenta. This is done either by inserting a needle through the abdomen or through a thin tube inserted vaginally.
In the second trimester Amniocentesis testing is done. Amniotic fluid is collected by a needle inserted through the abdomen into the womb for testing.
Prenatal screening and testing for Down’s syndrome and continuing the pregnancy if you find the results is positive are your choice. It has been reported that over 90% of pregnancies that are determined to be Down’s syndrome are aborted. There are adoption waiting lists of parents who want to adopt babies with Down’s syndrome.
Support groups and many resources are available for parents who make the choice to continue the pregnancy and raise their child on their own.
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