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Prenatal diagnostics

Prenatal testing is testing for diseases or conditions in a fetus or embryo before it is born. The aim is to detect birth defects such as down syndrome, chromosome abnormalities, genetic diseases and other conditions. Prenatal diagnostic testing can be by a non-invasive method or invasive methods:
A non-invasive method, called 'the combined test', can only evaluate risk of a condition and cannot determine 100% if the fetus has a condition. It includes an ultrasound (measurement of nuchal translucency) and a maternal serum screen (bloodtest). If an abnormality is indicated by the non-invasive procedure, a more invasive technique may be employed to gather more information.
An invasive method is when a probe or needle is inserted into the placenta or womb, e.g. Chorionic Villus Sampling (CVS) and amniocentesis.

Risk factors qualifying a pregnant woman for prenatal diagnostic testing:
- Women over the age of 36 before the 18th week of the pregnancy.
- Increased findings of the combined test (a risk of 1:200 or higher).
- Women who have previously had a baby with genetic problems or a birth defect.
- Women who have family histories prone to genetic disorders, or whose partners have these.
- Parents who are known carriers of a genetic disorder.
- Abnormal results of an ultrasound.
 
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