In a recent study, scientists at the Wayne State University find it possible to test for genetic disorders 5 weeks into pregnancy.
The finding is published in Science Translational Medicine, a journal of the American Association for the Advancement of Science.
In the article, the WSU researchers wrote that their non-invasive testing method – Trophoblast Retrieval and Isolation from the Cervix (TRIC) – offers the accuracy of more invasive tests, such as the needle-directed amniocentesis, and can also be utilized five to 10 weeks earlier than current testing modalities.
This demonstrates the researchers’ ability to isolate fetal DNA from the cells obtained by TRIC.
“We sequenced the fetal DNA and compared it to that of the mothers, proving that they were different, but the fetal DNA always contained one copy of the mother’s DNA genes. We also had some DNA from the placenta and found that it was identical to the fetal DNA,” Armant said.
The sequencing was completed in 20 consecutive pregnancies collected at five to 19 weeks, with minimal maternal DNA contamination.
“We used next-generation sequencing and accurately determined the nucleotide sequence down to a single base. TRIC could be used as a noninvasive prenatal genetic test, with the accuracy of invasive tests like amniocentesis, and the ability to perform the test five to 10 weeks earlier than current testing modalities.”
“Fetal genome profiling at five weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal.”
Continuing their studies of obstetrical complications, the team’s next goal is to discover novel biomarkers through global discovery screens, going beyond the proteins already tested, which were already known biomarkers of those diseases.
Citation: Jain CV, et al. (2016). Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal. Science Translational Medicine, 8: 363re4. DOI: 10.1126/scitranslmed.aah4661.
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