ACMG Posters: needs of expectant mothers with a prenatal diagnosis for Down syndrome

double-helix-with-stethoscopeAnother round-up of research from this year’s American College of Medical Genetics & Genomics.

NIH launches Down syndrome registry

Poster 200: NIH’s research plan and Down syndrome registry: The NIH has created a research plan identifying priorities in Down syndrome-related health research and launched a registry called DS-Connect. About the registry:

The registry was launched in September 2013 and within 3 months had over 1200 registrants. Family members and those with DS can enter contact and health information into an online, secure, confidential database. Registry participants can customize their profile, update it online, and see all of their information along with the aggregate, de-identified data from all of the participants. A professional portal is under development for clinicians and researchers. Professional users will also have access to the de-identified data to develop clinical studies and explore future collaborations. If an investigator requests help with recruitment, the registry coordinators will contact registrants on behalf of the investigator to invite them to participate in the research study. One of the goals of the registry is to create a resource for all individuals with DS worldwide.

Duke studies needs of expectant mothers with a prenatal diagnosis of Down syndrome

Poster 212: Understanding the informational and emotional needs of those with a prenatal diagnosis of Down syndrome:

This two-year national, exploratory study aims to identify the informational and emotional needs of patients with a prenatal diagnosis of DS during the decision-making process for pregnancy management. … 98% found it beneficial to answer questions about their experience and 98% felt their participation could potentially help others. … Insightful viewpoints were gathered from patients, which serve as a timely appraisal of the prenatal diagnostic experience to inform evidence-based practice and allow us to better support patients receiving, and making various decisions for, a prenatal diagnosis of DS.

I wrote further about this study at this post, where you can access the questionnaire and participate yourself if you fit the study’s criteria. I hope that you will.

Postnatal Down syndrome test by smartphone picture

Poster 252: Postnatal diagnosis of Down syndrome via photography. Researchers developed a facial feature recognition program that had significant accuracy in detecting Down syndrome based on a facial photograph. For those in the developed world, this may seem unnecessary, since a karyotype from a blood sample of the infant provides the definitive diagnosis. But, as the researchers conclusion points out:

While access to genetic testing for Down syndrome remains limited by geography, cost and physician availability, our technology has the potential to increase the diagnostic accuracy, reduce time and expense, and allow for remote diagnosis.

And in this iPhone age, apparently they are developing an “app” to do diagnose based off of a simple snap of a smartphone.

When NIPS is offered affects its and invasive testing’s acceptance by patients

Poster 260: Aneuploidy screening and invasive testing in the era of NIPS. One practice in Western North Carolina reports how NIPS, and when it is offered, affects its acceptance and the acceptance of invasive testing (IT):

Our experience with NIPT and IT was very different for women presenting for genetic counseling early versus later in pregnancy. We found low, overall rates of IT except among women counseled early who desired definite testing. In our population, the availability of NIPT decreased the IT rate. Despite the availability of a very accurate screen, there remains a subgroup of women who desire the most comprehensive information available only by invasive testing.

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