Study finds prenatal screening of all human chromosomes can help detect genetic disorders
Researchers at the National Institutes of Health and other institutions found that extending noninvasive prenatal screening to all 24 human chromosomes can enable the detection of genetic disorders that may cause miscarriages and other complications to a fetus, the NIH said in a release.
The findings of the the study, which appears in the Aug. 30 issue of Science Translation Medicine, could improve the accuracy of noninvasive screening's detection of genetic conditions.
“Extending our analysis to all chromosomes allowed us to identify risk for serious complications and potentially reduce false-positive results for Down syndrome and other genetic conditions,” Diana W. Bianchi, senior author of the study and chief of the Prenatal Genomics and Therapy Section at NIH’s National Human Genome Research Institute and director of NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development said in the release.
Genomic tests performed during pregnancy rarely evaluate all 24 chromosomes, but generally target extra copies of chromosomes 21, 18 and 13. Researchers analyzed DNA sequence data from close to 90,000 samples of maternal plasma to study how well this rare form of testing could detect abnormalities.
“We found that pregnancies at greatest risk of serious complications were those with very high levels of abnormal cells in the placenta,” Mark D. Pertile, co-first author of the study and head of the division of reproductive genetics at Victorian Clinical Genetics Services, part of Murdoch Childrens Research Institute in Melbourne, Australia, said in the release. “Our results suggest that patients be given the option of receiving test results from all 24 chromosomes.”
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