I'm 41 years old and this is my first baby. I'm worried about Down's Syndrome but more so about the risks involved in testing...
Putting your mind at ease
It's fantastic that you've conceived, congratulations! It must be quite unsettling when you've probably only read negative stories relating to testing for Down's syndrome and the possible risk of miscarriage with amniocentesis testing. Don't worry, things have advanced a lot and there's now a new, non-invasive and exceptionally accurate method of testing available.
What is NIPT?
NIPT stands for non-invasive prenatal testing...and it is exactly what it says it is. NIPT is a sophisticated blood test used to screen for abnormalities in the fetal DNA (present in the mothers blood), in particular in pregnancies of women over 40 or those known to be more at risk. Because the NIPT is non-invasive (unlike an amniocentesis test or chorion biopsy) there's no disturbance to the fetus or the placenta, hence no risk of miscarriage.
What does NIPT test for exactly?
Down's syndrome (trisomy 21) is the most common fetal chromosome anomaly which can be identified with an NIPT, as well as trisomy 18 and trisomy 13. NIPT can also accurately identify the sex of the fetus in early pregnancy, before the first ultrasound. This is useful if there is a high risk of specific hereditary genetic problems associated with a particular sex. It does not, however, screen for other such diseases/genetic anomalies.
When should I get tested and how long do the results take?
As this is a simple blood test it can be undertaken by your doctor or gynecologist as early as the 10th week of pregnancy. The results are normally available within 2 weeks so obviously it's better to get the test done as soon as possible. Despite being extremely accurate NIPTs are still considered screening tests and confirmation of a high risk result is always required, usually with amniocentesis.