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Midway through her pregnancy four years ago, Denise Bratina got some scary news. Doctors told Bratina, then 37, that amniocentesis results showed that her unborn child was missing a small segment of DNA from chromosome 15. The missing DNA, they said, might cause a long list of problems, including seizures, heart defects and developmental delays. Or it might cause no problems at all.
Five months later, Bratina’s daughter Ella was born healthy.
Most parents-to-be would never have found out about such missing DNA, because the problem was too small to be detected by standard prenatal genetic tests. But Bratina was a participant in a study of chromosomal microarray analysis, a new kind of test that allows doctors to examine fetal DNA in amniocentesis samples for such tiny genetic variations.
Microarray analysis is part of a sea change in prenatal testing, according Ronald Wapner, a reproductive genetics expert at NewYork-Presbyterian Hospital/Columbia University Medical Center, who led the study. In just the past two to three years, Wapner says, “the genetic testing that’s available for pregnancies has become phenomenally more advanced.”
Researchers...
Five months later, Bratina’s daughter Ella was born healthy.
Most parents-to-be would never have found out about such missing DNA, because the problem was too small to be detected by standard prenatal genetic tests. But Bratina was a participant in a study of chromosomal microarray analysis, a new kind of test that allows doctors to examine fetal DNA in amniocentesis samples for such tiny genetic variations.
Microarray analysis is part of a sea change in prenatal testing, according Ronald Wapner, a reproductive genetics expert at NewYork-Presbyterian Hospital/Columbia University Medical Center, who led the study. In just the past two to three years, Wapner says, “the genetic testing that’s available for pregnancies has become phenomenally more advanced.”
Researchers...