Whole Genome Sequencing of De Novo Balanced Rearrangements in Prenatal Diagnosis, Brigham and Women's Hospital Study

Whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days, scientists reported November 7 at the American Society of Human Genetics (ASHG) 2012 meeting in San Francisco. "Such a relatively brief timeframe will enable physicians to predict diagnosis of serious congenital disorders prenatally to counsel the parents and plan perinatal care of infants with chromosomal rearrangements," said Zehra Ordulu, M.D., Brigham and Women's Hospital and Harvard Medical School medical research fellow in obstetrics, gynecology and reproductive biology, who presented the study.