Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective Evaluation (PrenatalSEQ)

Whole exome and whole genome sequencing (WGS) have expanded the ability to determine the genetic etiology of previously undiagnosed disorders. This study is a multicenter prospective cohort study to evaluate the emerging technology of sequencing for the management of fetuses with structural anomalies. The hypothesis is that a significant subset of fetal structural anomalies has a genetic etiology identifiable by sequencing and that prenatal knowledge of this information will improve perinatal care, reduce unnecessary diagnostic testing, reduce the cost of care, and improve quality of life for both the child and the family. The aims of this study are to investigate these multiple aspects of prenatal sequencing in a single study with an innovative integrated prospective design, which will permit a robust evaluation of the benefits and risks of delivering diagnostic and prognostic genetic testing results in a prenatal setting.  The study will determine, in a sequential population of pregnancies with selected fetal structural anomalies and a negative or non-causal chromosomal microarray (CMA), the frequency of pathogenic, likely pathogenic, and uncertain genomic variants identifiable by sequencing.


Rebecca Clifton

Project Overview:

The main objective of this multi-center collaborative study is to evaluate sequencing (both whole exome sequencing [WES] and WGS) as a prenatal diagnostic tool in pregnancies with a structural anomaly and a negative or only non-causal karyotype/ chromosome microarray analysis (CMA). 

Funding Agency or Sponsor: