Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results.
Stephany H DonzeMalgorzata Ilona SrebniakKarin E M DiderichMyrthe van den BornRobert-Jan GaljaardLutgarde C P GovaertsVyne van der SchootMaarten F C M KnapenMarieke JoostenDiane Van OpstalPublished in: Prenatal diagnosis (2023)
The added value of investigating AF cell cultures in addition to uncultured cells is limited to two of 204 (1%) cases in which true fetal mosaicsm would otherwise be missed. The clinical relevance of one (trisomy 13) remained unknown and the other case also showed ultrasound anomalies, which determined pregnancy management. This seems to justify limiting prenatal cytogenetic confirmatory testing to SNP arrays on uncultured AF cells, considerably shortening the reporting time.