Study Raises Questions About Popular Genetic Testing for ‘Abnormal’

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But the new study also demonstrates the limitations of transferring such embryos. The vast majority of 144 embryos transferred by the group had only one or two chromosomal abnormalities, but the transfers resulted in 11 miscarriages in addition to eight live births.

“There’s just too many lows at this rate,” said Laura Hercher, director of student research in the Sarah Lawrence College genetics counseling program.

The PGT-A test is used to screen for aneuploidy, which is the detection of an inappropriate number of chromosomes (too few or too many) in the sampled cells. An abnormal number of chromosomes can lead to genetic disorders such as Down syndrome in severe cases. More often, the wrong number of chromosomes can lead to failed pregnancies, either by preventing embryos from settling or causing miscarriages.

But the problem with PGT-A is that it provides an incomplete picture, which is often interpreted as too definitive a conclusion, say the study’s authors. The test relies on sampling a handful of cells from the outer shell of the developing embryo and testing whether each has 23 pairs of chromosomes.

An OB-GYN at the Center for Human Reproduction and co-author of the study, Dr. “The purpose of PGT was to select embryos that would give someone a good chance of achieving pregnancy,” said David Barad. “But doing genetic testing doesn’t make embryos better, it just gives us an idea of ​​who they are.”

Continuing to use these embryos with abnormalities brings with it some risks, The authors of the new study, all affiliated with the clinic that made the transfers, viable embryos are currently overlooked, leading many women to believe they have no other option to achieve pregnancy.

Clinical director and co-author of the study, Dr. “The miscarriage rate is roughly as expected at this advanced age,” Norbert Gleicher said via email. “Ask women what they prefer. No risk of miscarriage or chance of having a baby at all. The answer will be clear.”

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