Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype.
Diane Van OpstalStefanie van VeenMarieke JoostenKarin E M DiderichLutgarde C P GovaertsJoke PolakNicole van KoetsveldMarjan BoterAttie T J I GoDimitri N M PapatsonisKrista PrinsenLies H HoefslootMalgorzata Ilona SrebniakPublished in: Prenatal diagnosis (2019)
Our study shows that targeted cytogenetic investigations for confirmation of NIPT showing a microscopically visible structural chromosome aberration should be avoided, since another aberration, even a submicroscopic one or one involving another chromosome, may be present in the fetus.