Skip to main content
Premium Trial:

Request an Annual Quote

Women and Infants Hospital to Study Use of Natera Prenatal Screen

NEW YORK (GenomeWeb News) – The Women and Infants Hospital of Rhode Island will be using funding from genetic testing firm Natera to study the use of the company's prenatal blood test for Down syndrome and other chromosomal abnormalities in a general clinical setting.

Investigators at the hospital plan to focus their efforts on finding out how much information and education women in the general pregnancy population need about the test, called Panorama, which has been used so far been used to screen women in high-risk groups, the hospital said today.

"This is not a study of the test itself. We already know that DNA-based screening is highly effective. Rather, we need to look at its implementation in the general population to determine how best to educate professionals and patients," Women and Infants' Glenn Palomaki said in a statement.

The investigators also plan to contact a group of around 100 women who have had the DNAFirst screening – out of a total of around 3,500 who will have the test in Rhode Island - and who match a specific set of clinical and demographic characteristics, to ask them about their experiences having the test through a 15-minute survey.

Palomaki has already been conducting studies aimed at understanding how to integrate genomic medicine in maternal clinical care.

In 2011, he published an external validation study of the use of next-generation sequencing of circulating cell-free DNA in maternal plasma to identify common chromosome abnormalities, Women and Infants said.

Filed under

The Scan

Octopus Brain Complexity Linked to MicroRNA Expansions

Investigators saw microRNA gene expansions coinciding with complex brains when they analyzed certain cephalopod transcriptomes, as they report in Science Advances.

Study Tracks Outcomes in Children Born to Zika Virus-Infected Mothers

By following pregnancy outcomes for women with RT-PCR-confirmed Zika virus infections, researchers saw in Lancet Regional Health congenital abnormalities in roughly one-third of live-born children.

Team Presents Benchmark Study of RNA Classification Tools

With more than 135 transcriptomic datasets, researchers tested two dozen coding and non-coding RNA classification tools, establishing a set of potentially misclassified transcripts, as they report in Nucleic Acids Research.

Breast Cancer Risk Related to Pathogenic BRCA1 Mutation May Be Modified by Repeats

Several variable number tandem repeats appear to impact breast cancer risk and age at diagnosis in almost 350 individuals carrying a risky Ashkenazi Jewish BRCA1 founder mutation.