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New Tests for Down's syndrome
New ultrasound marker
An accurate, non-invasive Down's syndrome screening test for pregnancy is the Holy Grail of preventative foetal medicine. Now nuchal translucency pioneer Professor Kypros Nicolaides has discovered a new marker for Down's that can be detected by ultrasound in the first trimester. The majority of Down's foetuses in a study of 701 pregnancies lacked a nasal bone.
Amniocentesis news
Over the last 20 years, there's been a steady increase in the efficiency of screening tests for chromosomal disorders. To begin with, mothers were screened only for age or family history. Later, a range of markers in the mother's blood could be measured for risk. If the result was positive, then the mother would be offered amniocentesis, where amniotic fluid is drawn from the uterus through a needle around week 16, or chorionic villius sampling (CVS), where a sample of the developing placenta is removed around week 11.
'This results in around 300 miscarriages a year, mostly of healthy babies,' says Nicolaides. When the statistics were examined this year, it was discovered that, for every baby with a disability detected by invasive tests, four healthy babies were lost to miscarriage.
Following retrieval, foetal cells had to be cultured, and results would not be available for two weeks, adding to the stress of parents. A new procedure, called quantitative fluorescence polymerase chain reaction (QF-PCR), has speeded up results to around 1.25 working days, but is not widely available.
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