This story was originally posted on March 29.
A research team that recently determined that chromosomal microarray analysis is more informative than microscope-based molecular karyotyping for detecting genetic abnormalities in prenatal samples plans to continue its efforts.
At the American College of Medical Genetics annual meeting, held last week in Charlotte, NC, principal investigator Ronald Wapner told BioArray News that the group has received a five-year, $5 million grant from the National Institute of Child Health and Human Development to support the project. The group will use the funds to track pediatric patients who had an abnormal array result of unclear significance over a three-year period to obtain phenotypic information that may result from the abnormality. The team also intends to build an interactive online educational resource for test providers and patients.
The team, which includes researchers from New York Presbyterian Hospital-Columbia University Medical Center, Emory University, Baylor College of Medicine, and Signature Genomics, worked together on an initial five-year, NICHD-funded project, called "Prenatal Diagnosis by Array-based Copy Number Analysis." That project, set to conclude this May, has received $5.5 million in funding since its inception in 2007.
The team made the preliminary results from this initial project public in February, when Wapner presented data from the study at the Society for Maternal-Fetal Medicine meeting in Dallas (BAN 2/14/2012).
After examining more than 4,000 cases using Affymetrix and Agilent Technologies microarrays, the team determined that arrays detected additional abnormalities in one out of every 70 fetal samples that had a normal karyotype. When a birth defect was imaged by ultrasound, arrays found relevant genetic information in 6 percent of cases. These findings and others led the team to conclude that arrays were more informative than standard, microscope-based karyotyping to identify genetic abnormalities in prenatal cases.
A manuscript detailing the study has been submitted and should be published in the next few months, Wapner said. The new project, which is being funded as a continuation of the initial project, has two main goals, Wapner said: to "determine the frequency and full phenotypic spectrum of specific CNVs discovered in a nonbiased situation, such as in utero," and to "evaluate the educational counseling and psychosocial implications" of chromosomal microarray analysis.
Wapner said that the group has enlisted the help of 10 prenatal diagnostic centers to get in touch with prospective study participants. Ideally, the group will be able to follow between 600 and 1,000 infants to age 3. Information gathered will consist of medical history, such as medical diagnoses, surgeries, and growth; Vineland Adaptive Behavior Scales that will be administered by phone; and daily living skills, such as communication, social, and motor skills. The group will also rely on patient siblings as controls. Both affected patients and affected siblings will be assessed using Wechsler Preschool and Primary Scale of Intelligence testing. All of the information collected will allow the researchers to observe any potential effects of CNVs of unclear clinical significance.
As part of the newly funded project, the team will also develop a website for providers and patients. Melissa Savage, a genetic counselor at CUMC, told BioArray News at the conference that the website will primarily be a mechanism to get patients to self-report results for the project, but also an educational resource for patients, and an interface for providers to maintain contact with patients during the three years of study.
According to Wapner, the researchers expect to receive the funds to commence the new study in June. He said that the team expects to receive about $1 million annually during the next five years to support the project.
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