Genetic technology detects CHARGE syndrome in prenatal sample

December 6, 2012, Brigham and Women's Hospital

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

Peers' genes may help friends stay in school, new study finds

January 18, 2018
While there's scientific evidence to suggest that your genes have something to do with how far you'll go in school, new research by a team from Stanford and elsewhere says the DNA of your classmates also plays a role.

A centuries-old math equation used to solve a modern-day genetics challenge

January 18, 2018
Researchers developed a new mathematical tool to validate and improve methods used by medical professionals to interpret results from clinical genetic tests. The work was published this month in Genetics in Medicine.

Can mice really mirror humans when it comes to cancer?

January 18, 2018
A new Michigan State University study is helping to answer a pressing question among scientists of just how close mice are to people when it comes to researching cancer.

Group recreates DNA of man who died in 1827 despite having no body to work with

January 16, 2018
An international team of researchers led by a group with deCODE Genetics, a biopharmaceutical company in Iceland, has partly recreated the DNA of a man who died in 1827, despite having no body to take tissue samples from. ...

Epigenetics study helps focus search for autism risk factors

January 16, 2018
Scientists have long tried to pin down the causes of autism spectrum disorder. Recent studies have expanded the search for genetic links from identifying genes toward epigenetics, the study of factors that control gene expression ...

The surprising role of gene architecture in cell fate decisions

January 16, 2018
Scientists read the code of life—the genome—as a sequence of letters, but now researchers have also started exploring its three-dimensional organisation. In a paper published in Nature Genetics, an interdisciplinary research ...

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.