February 1, 2016Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variantsCurrent cell-free DNA assessment of fetal chromosomes does not analyze and report on all chromosomes. Hence, a significant proportion of fetal chromosomal abnormalities are not detectable by current noninvasive methods. Read more »
December 2, 2020Webinar: Test. Better. Enhanced NIPT Reporting for Patients with Positive Results Read more »
June 1, 2017Comparison of pan-ethnic and ethnic-based carrier screening panels for individuals of Ashkenazi Jewish descent Read more »
March 1, 2018Identification of Two Novel Deletions with Breakpoints Located in Exon 11 in the BRCA2 Gene Read more »
September 3, 2020Not All Low Fetal Fraction cfDNA Screening Failures are at Increased Risk for AneuploidyAssess aneuploidy risk in MaterniT21 PLUS non-reportables due to low FF Read more »
June 1, 2021Identification of a CHRNA1 c.2T>C homozygous variant in three fetuses with features of lethal multiple pterygium syndrome in an Ashkenazi Jewish family Read more »
