Diagnostic exome sequencing positively identified relevant alterations in half of prenatal samples tested
We performed a retroactive analysis of the first 7 cases referred to our laboratory for diagnostic exome sequencing following fetal demise or termination of pregnanc.
All cases had multiple congenital anomalies identified by Level II ultrasound and were known to have normal karyotypes.
All cases involved sequencing of the trio, including proband and parental samples. Parental samples were used for filtering and analysis. Samples were not available for any of the previously affected pregnancies or siblings.
Chromosomal microarray results were available for 5 cases and were either normal or uncertain. In 1 case there was a continuous region of homozygosity identified that was consistent with reported consanguinity.
Six of the 7 cases were the 2nd abnormal pregnancy of normal parents and in 2 cases there was a concerning history in more distant relatives of similar or possibly related findings.
Authors: Christina L. Alamillo; Kelly Farwell; Layla Shahmirzadi; Dima El-Khechen; Zöe Powis; Vruti Mehta; Katherine Helbig; Christian Gund; Marilyn Tsang; Brigette Tippin Davis; Sha Tang; Elizabeth Chao