References

References cited in MaterniT® GENOME provider brochure 31-20520R2

  1. Lefkowitz, RB et al. Genome wide detection of chromosomal gains and losses greater than 7Mb by cfDNA analysis. Poster presented at: 20th International Conference on Prenatal Diagnosis and Therapy; 2016, July 10-13; Berlin, Germany.
  2.  https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome#statistics 
  3. Sensitivity estimated across the observed size distribution of DiGeorge syndrome [per ISCA database nstd37] and across the range of fetal fractions observed in routine clinical NIPT. 
  4. Di Gregorio E, et al. Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. Mol Cytogenet. 2014;7(82).