S. D. Lanta

Clinical utility of prenatal exome sequencing after normal chromosomal microarray in fetuses with structural anomalies.

Congenital anomalies detected by ultrasound occur in approximately 2-4% of pregnancies. Cytogenetic testing allows detection of chromosomal abnormalities, but the majority of fetuses remain without a diagnosis. It is in this context that exome sequencing was introduced into prenatal medicine. The objective of this stud...