Genetic technology detects CHARGE syndrome in prenatal sample

December 6, 2012

Brief Report in the December 6, 2012 issue of the New England Journal of Medicine (NEJM) focuses on findings from Cynthia Morton, PhD, director of Cytogenetics at Brigham and Women's Hospital and senior study author, and colleagues on a prenatal case study involving a new, balanced translocation (a genetic abnormality caused by chromosomal rearrangements) between chromosomes 6 and 8.

The researchers used customized whole-genome "jumping libraries" to identify the precise abnormal areas on the chromosomes and saw a disruption in the CHD7 gene, mutations in which are known to cause CHARGE syndrome (a rare disease that can lead to birth defects of the eyes, ears, heart and other organs). Clinicians diagnosed CHARGE syndrome in the child at birth.

Along with Dr. Morton's case study, two other studies involving 4,406 women undergoing and 532 stillbirths, respectively, will appear in NEJM. The reports will appear with an accompanying editorial, "Application of Genomic Technology in Prenatal Diagnosis." In the editorial Lorraine Dugoff, MD, University of Pennsylvania, highlights how the reports show the power, complexity and some of the pitfalls of using new genomic technology in clinical practice.

Dr. Morton's major research interests are molecular and cytogenetic studies of uterine leiomyomata, hereditary hearing loss and cytogenetic approaches to for developmental disorders.

Explore further: Whole genome sequencing of de novo balanced rearrangements in prenatal diagnosis

Related Stories

Whole genome sequencing of de novo balanced rearrangements in prenatal diagnosis

November 7, 2012
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 today at the American Society of Human Genetics ...

Genetic risk for uterine fibroids discovered

October 4, 2012
Uterine fibroids are the most common type of pelvic tumors in women and are the leading cause of hysterectomy in the United States. Researchers from Brigham and Women's Hospital (BWH) are the first to discover a genetic risk ...

New prenatal genetic test is much more powerful at detecting fetal abnormalities

February 9, 2012
A nationwide, federally funded study has found that testing a developing fetus' DNA through chromosomal microarray (CMA) provides more information about potential disorders than does the standard method of prenatal testing, ...

Recommended for you

A rogue gene is causing seizures in babies—here's how scientists wants to stop it

July 26, 2017
Two rare diseases caused by a malfunctioning gene that triggers seizures or involuntary movements in children as early as a few days old have left scientists searching for answers and better treatment options.

Scientists provide insight into genetic basis of neuropsychiatric disorders

July 21, 2017
A study by scientists at the Children's Medical Center Research Institute at UT Southwestern (CRI) is providing insight into the genetic basis of neuropsychiatric disorders. In this research, the first mouse model of a mutation ...

Scientists identify new way cells turn off genes

July 19, 2017
Cells have more than one trick up their sleeve for controlling certain genes that regulate fetal growth and development.

South Asian genomes could be boon for disease research, scientists say

July 18, 2017
The Indian subcontinent's massive population is nearing 1.5 billion according to recent accounts. But that population is far from monolithic; it's made up of nearly 5,000 well-defined sub-groups, making the region one of ...

Mutant yeast reveals details of the aberrant genomic machinery of children's high-grade gliomas

July 18, 2017
St. Jude Children's Research Hospital biologists have used engineered yeast cells to discover how a mutation that is frequently found in pediatric brain tumor high-grade glioma triggers a cascade of genomic malfunctions.

Late-breaking mutations may play an important role in autism

July 17, 2017
A study of nearly 6,000 families, combining three genetic sequencing technologies, finds that mutations that occur after conception play an important role in autism. A team led by investigators at Boston Children's Hospital ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.