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Test Spots Down Syndrome Earlier In Pregnancy

Snowbaby

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The combination of a blood test and ultrasound can reliably identify, as early as 11 weeks into a pregnancy, most babies likely to be born with Down syndrome, according to a new study.

The massive research project sought to determine which method (or combination of methods) among a dizzying array can provide the most accurate information, soonest, to pregnant women.

Researchers, led by Dr. Fergal Malone of the Royal College of Surgeons in Dublin, found that the combination of ultrasound and blood tests can identify about 87 per cent of Down babies in the first trimester. With follow-up testing early in the second trimester, the detection rate jumps to 96 per cent.

"This is going to have a big impact on the care of women around the world," Dr. Malone said. Currently, standard screening for Down's involves a blood test, with an 81-per-cent detection rate, done in the second trimester.

Dr. Malone said earlier, more accurate screening allows women who opt for an abortion to do it when it is safer and less traumatic. It also gives women who continue the pregnancy more time to prepare emotionally for a Down syndrome child, and lessens the anxiety for the vast majority whose baby is healthy.

Down syndrome, a genetic condition, occurs in about one in every 800 live births. People with Down's have extra genetic material on chromosome 21, abnormalities that can cause physical ailments and developmental delays.

Until the early 1980s, the only way of detecting Down syndrome and other chromosomal abnormalities was amniocentesis, a test that involves extracting amniotic fluid from the uterus with a long needle. The test can trigger a miscarriage, but was recommended for all pregnant women over 35.

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