In silico size selection is effective in reducing false positive NIPS cases of monosomy X that are due to maternal mosaic monosomy X.

Jekaterina ShubinaDmitry Yu TrofimovIlya Yu BarkovOlga K StupkoAndrey Yu GoltsovIrina S MukoseyNana K TetruashviliLyudmila V KimVladimir A BakharevNatalia A KaretnikovaTaisya O KochetkovaRegina V KrasheninnikovaAndrey A BystritskiyGennady T Sukhikh

Published in: Prenatal diagnosis (2018)

The prevalence of mosaic monosomy X karyotype is 0.3% (3/906)-10 times higher than published before. Additional in silico size-selection and data analysis increases PPV for monosomy X from 61% to 73% for studied population.

Keyphrases

data analysis
molecular docking
risk factors
randomized controlled trial
birth weight
body mass index