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New Test Offers Less Invasive, More Accurate Birth Defect Screening

There’s is a new way of detecting Down Syndrome and Trisomy 18 that is far less invasive than amniocentesis or CVS testing. The new test involves bloodwork that analyzes the mother’s plasma for free-cell DNA that can pinpoint certain fetal abnormalities according to the Journal of Obstetrics and Gynecology:

A technique known as massively parallel shotgun sequencing (MPSS) that analyzes free-cell DNA (fcDNA) from the mother’s plasma for fetal conditions has been used to detect trisomy 21 (T21) pregnancies, those with an extra copy of chromosome 21 that leads to Down syndrome, and trisomy 18 (T18), the chromosomal defect underlying Edwards syndrome. MPSS accurately identifies the conditions by analyzing the entire genome, but it requires a large amount of DNA sequencing, limiting its clinical usefulness.

The commercial name for the test is MaterniT21 and can be administered at only 10 weeks gestation. The test has nearly 100% accuracy in detecting Down Syndrome (Trisomy 21) and Edwards Syndrome (Trisomy 18).

This test has the potential to be yet another powerful tool for helping expectant parents and doctors know more about what to expect in any given pregnancy and allow families more time to make decisions about their care going forward. It is less invasive than either amnio or CVS, more accurate than the current regimen of bloodwork and sonograms, and poses no risk to the fetus.

The test has only been on the market since late 2011 and may not be available in all areas or covered by all insurance plans. Ask your doctor for more information.

Read more from Rebekah at Mom-in-a-Million, The DC MomsThe Broad Side
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