“Prenatal Genetic Diagnosis by Genomic Sequencing”
This study is evaluating the impact of prenatal sequencing on the management of fetuses with ultrasound abnormalities. The hypothesis is that a significant subset of fetal abnormalities have a genetic cause that can be identified by sequencing and that prenatal knowledge of this information will improve prenatal care, reduce unnecessary diagnostic testing, reduce the cost of care, and improve the quality of life for both the child and the family.
Diagnostic Test - Prenatal Genomic Sequencing
Whole genome sequencing (which initially will be masked and reported as exome only)
Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective Evaluation