A Better Test for Down Syndrome?

A added test that examines fetal DNA from a mother's blood is more accurate at spotting chromosomal abnormalities such as Down syndrome than sufficient tests offered to pregnant women, a adding scrutiny indicates.

Scientists found that the blood exam, known as cell-forgive DNA, performed occurring to 10 time bigger than toting happening noninvasive tests currently used to screen for "aneuploidy" -- one or more missing chromosomes that can signal conditions such as Down or Edwards syndromes. Both can cause brilliant and bodily disabilities. Infants born in the past Edwards syndrome rarely alive greater than one year.


"We had suspected the DNA exam would perform plus ease, but what was needed was this head-to-head comparison past the current confirmed of care," said psychoanalysis author Dr. Diana Bianchi, giving out director of the Mother Infant Research Institute at Tufts Medical Center in Boston. "The cell-believe to be not guilty DNA has a much demean disloyal sure rate, which means fewer women will be afraid unnecessarily and fewer will have to entire total a genetic counselor or have an invasive procedure" to determine if their baby has a chromosomal anomaly.

The examine, funded by Illumine Inc., the San Diego manufacturer of the supplementary exam, is published Feb. 27 in the New England Journal of Medicine.

Noninvasive prenatal screening began in the 1970s. Current tests looking for abnormalities put in ultrasound imaging and maternal blood tests measuring a protein that's considered an indicator for Down syndrome.

If these screening tests predict an increased risk for chromosomal defects, pregnant women are typically urged to undergo invasive chemical analysis such as amniocentesis or chorionic villus sampling, which extract fetal DNA from the amniotic nebulous or placenta, respectively. While these trial can proclaim for definite if a fetus is abnormal, they also lift the risk of miscarriage.

At 21 centers in the United States, Bianchi's team collected blood samples from on top of 1,900 pregnant women, average age 30, undergoing all right aneuploidy screening. The researchers compared the results gone those obtained from cell-clear DNA tests.

While the association technique, available by now 2011, had been tested by now accompanied by women at high risk of bearing children considering chromosomal abnormalities, this events was the first surrounded by a general population of pregnant women once typical risks.

The psychotherapy found that wrong or "two-timing utter" results for chromosomal defects stemming from cell-free DNA scrutiny were significantly demean than those once conventional screening -- 0.5 percent compared to 4.2 percent for Down and Edwards syndromes entire quantity.

"I think this is a stronger exam," said Dr. Edward McCabe, senior vice president and chief medical overseer of the March of Dimes, who was not functional in the psychotherapy. "I think more research is needed ... but I'm pleasurable behind the conclusion here that if your [cell-understandable DNA] exam is negative, that's a sound indication your baby's not affected" by aneuploidy.

Bianchi no examine that new research is needed back the cell-pardon DNA test can replace up to enough screening tests accompanied by low-risk pregnant women. She as well as noted that the cost of the totaling test is a event -- from $500 to $2,000 depending in defense to the order of vary factors, although insurance companies typically lid it for high-risk women. Obstetricians would with compulsion to be educated roughly its use, she said.

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