Abstract
What’s already known about this topic?
Sequencing-based noninvasive testing can detect large copy number abnormalities and some auto-somal dominant single-gene disorders
Exome sequencing (ES) on fetal samples provides 20% diagnostic yield for structural abnormalities after normal karyotype & microarray
What does this study add?
ES on cell-free DNA in three gravid patients with suspected genetic disease in the fetus
We demonstrate broad sequencing approaches are limited by sampling and technical difficulties, concluding broad sequencing is currently inappropriate for noninvasive testing
Competing Interest Statement
The authors have declared no competing interest.
Funding Statement
Neeta Vora and this work was supported by NICHD (K23HD088742). Dayne Filer was supported by NICHD (F30HD101228) and by NIGMS (5T32GM067553).
Author Declarations
I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.
Yes
The details of the IRB/oversight body that provided approval or exemption for the research described are given below:
All work was approved by the UNC IRB board.
All necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived.
Yes
I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance).
Yes
I have followed all appropriate research reporting guidelines and uploaded the relevant EQUATOR Network research reporting checklist(s) and other pertinent material as supplementary files, if applicable.
Yes
Data Availability
Full analytic pipeline available upon request.