Biomedical Laboratory Science

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Tuesday, September 19, 2017

Non-Invasive Alternative To Amniocentesis? Experimental Test May Let Screen For Genetic Defects 5 Weeks Into Pregnancy

An experimental test that relies on an old-fashioned screening exam — the pap smear — may someday allow doctors to easily detect birth defects sooner than ever.

On Tuesday, Wayne State University (WSU) researchers revealed the latest encouraging findings on their creation, called “Trophoblast Retrieval and Isolation from the Cervix,” or TRIC for short. Using a pap smear, they scraped trophoblasts — the cells that eventually help form a fetus’ placenta — from pregnant women’s cervixes and genetically sequenced the fetal DNA found inside with next generation technology. They then compared these samples to those obtained from the mother, placenta, and fetus via conventional means.

Not only were the TRIC samples mostly made out of fetal DNA, indicating the low risk of contamination, but they matched up perfectly with the other fetal samples, validating the test’s overall accuracy. Even more importantly, the samples were taken as early as 5 weeks into pregnancy, blowing past the limit of other, invasive screening tests, such as amniocentesis, which can only be given starting at the end of the first trimester, 14 to 16 weeks in.

Researchers have developed a test that may be able to screen for birth defects
as early as five weeks into pregnancy.


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