New Tests for Down's syndrome

During research that ended in October 2001, a sample of 701 pregnant women, considered to be high risk due to their age and nuchal translucency results, were offered another scan between 11 and 14 weeks to examine the foetus's profile. All the women then went on to have CVS or amniocentesis. The scans detected that 73 per cent of Down's foetuses had no nasal bone, compared to 0.5 per cent of foetuses that were chromosomally normal.

More effective blood tests
In a separate development, Professors Dennis Lo and James Wainscoat of Oxford University have succeeded for the first time in reliably identifying foetal DNA in maternal plasma. The rights to develop a test based on the discovery were snapped up by BTG, a UK technology transfer company which hopes that it will prove as reliable for detecting chromosomal disorders as amniocentesis and CVS, but without the risk of miscarriage. The test should be available within five years.

Benefits of the new tests
Both new tests would be cost effective for the NHS, as they require no new procedures or special equipment. Amniocentesis and CVS cost the NHS £250 a time which currently adds up to £5 million a year.'If doctors spent an extra few seconds while the woman is having a routine scan checking for the nasal bone, it would reduce the number of invasive tests from 30,000 to 10,000,' says Nicolaides.Four out of five pregnant women opt for screening tests; and 95 per cent with positive results for abnormalities choose to accept therapeutic abortion. The new tests promise women more accurate results and less worry during pregnancy.