ISPD issues new guidelines for prenatal genome-wide sequencing

pregnancy_dnaGenome-wide sequencing is increasingly being conducted on fetal tissues, either as whole exome sequencing (WES), whole genome sequencing (WGS), or targeted analysis that uses clinical panels. These kinds of prenatal sequencing are sometimes done when more standard genetic tests have not yielded helpful results to explain structural anomalies, or if a specific genetic condition is suspected that would not be detected through other prenatal tests. While such sequencing is more likely to yield a positive result, it comes with its own set of risks and challenges – for instance, it is more likely to detect variants of unknown significance and other results that lead to excessive testing and stress on parents without significant benefit.

The International Society of Prenatal Diagnosis (ISPD), in conjunction with the Society of Maternal Fetal Medicine (SMFM) and the Perinatal Quality Foundation (PQF), just issued a joint position statement on the use of genome-wide sequencing for fetal diagnosis. While they recognize that sequencing can be useful in some instances, they generally take a cautionary approach. Based on “lessons learned from existing prenatal testing,” along with currently available literature and a panel discussion at the most recent annual ISPD meetings, their consensus opinion includes the following points. Continue reading ISPD issues new guidelines for prenatal genome-wide sequencing


See you at ISPD 2015!

PIRC is well-represented at the 2015 annual meeting of the International Society for Prenatal Diagnosis this upcoming week in Washington, DC. Look for PIRC collaborators Stephanie Alessi, Megan Allyse, Shubha Chandrasekharan, Mark Leach, Stephanie Meredith, Marsha Michie, and Vardit Ravitsky at the conference, or contact us to set up a meeting.

PIRC-affiliated studies that are featured in ISPD poster presentations this year include:

Our collaborators are also presenting posters on other projects. See the Events page for a list of poster titles.

Last but certainly not least, don’t forget to join us for the Stakeholder Perspectives in Noninvasive Prenatal Genetic Screening Symposium, Thursday, July 16th at the Carnegie Library at Mount Vernon Square, just across the street from the Washington Marriott Marquis. The day-long agenda features an amazing set of speakers from a wide range of perspectives. Symposium registration is still open.

See you in DC!