March 12, 2021

Application of mosaicism ratio to multifetal gestations

Examine the behavior of mosaicism ratio in multifetal gestations applied to chromosome aneuploidy and fetal sex • For multifetal gestations, MR can be applied to cases positive for aneuploidy, to determine if one or more fetuses are affected, and cases where Y chromosome material is detected to determine if one or more fetuses are male • For positive resu
February 2, 2012

DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study

Validation study of MaterniT21 for Trisomy 18 and Trisomy 13 • International collaboration of 27 prenatal diagnostic centers  • 4,664 singleton pregnancies • 62 pregnancies with Trisomy 18: Detection rate for Trisomy 18 = 100% (59/59), Trisomy 18 false positive rate – 0.3% (5/1,688) • 12 pregnancies with Trisomy 13: Detection rate for Trisomy 13 = 91